Friday, August 15, 2014

Bidding farewell to CoQ10: a long-studied supplement proves ineffective in the fight against Huntington’s disease

One of the first and most-studied potential treatments for alleviating the symptoms of  Huntington’s disease has proved ineffective, leading researchers to halt a clinical trial of the substance.

Along with many others in the HD community, I have taken the readily available supplement coenzyme Q10 (CoQ10). As I wrote in a February article about the debate over unproven supplements, the lack of a treatment to slow HD’s devastation of the brain led me to take several of these substances in the hopes of staving off onset (click here to read more).

As reported August 13 by the HD science portal, the National Institute of Neurological Disorders and Stroke (NINDS) and the Huntington’s Study Group (HSG) stopped the CoQ10 clinical trial this week because of lack of significant results.

“It seems clear now that coenzyme Q10 does not work for HD,” the HDBuzz article stated. “Looking back, the body of evidence used to decide to test CoQ10 in human patients was fairly limited. In fact, recent efforts to repeat the observation that CoQ10 makes HD mice better have failed.”

According to HDBuzz, the trial known as 2Care, was the “largest ever therapeutic trial for Huntington’s disease.” It had enrolled 609 participants with early HD symptoms from 48 sites throughout North America and Australia. Half received a placebo, while the other half took 2,400 mg of CoQ per day – four times the amount that I have taken.

My supplements, including coenzyme Q10 at far left (photo by Gene Veritas)

A natural substance, CoQ10 is found in all of our cells and helps to turn food into chemical energy. Starting in the mid-1990s, scientists hypothesized that CoQ10 might help alleviate the serious energy deficits found in the brains of HD patients.

In another recent clinical trial, CoQ10 was also shown to have no benefit in stopping early Parkinson’s disease symptoms.

After consulting with several HD specialists, I have decided to stop taking CoQ10. Given the demonstrated lack of efficacy against HD, I see no reason to continue.

Also, although inexpensive over-the-counter varieties of CoQ10 exist, I have taken a medical-grade form that has cost me $1,000 per year. (Health plans do not cover supplements.) I can use that money to relieve strain on the family budget and/or spend it on services such as psychotherapy that help me cope with my situation as an HD gene carrier.

For now, I will continue to take other supplements as detailed in my February article: trehalose, creatine, omega-3 oil, and blueberry extract. However, I also plan to carefully rethink this strategy in consultation with my neurologist and HD specialists. (For a 2012 overview of key supplements and HD by Dr. LaVonne Goodman, please click here.)

A process of elimination

“While the results of this study are disappointing to all of us particularly the people with HD who faithfully took the drug …  every day for as long as five years, and subjected themselves to blood draws and neurologic exams and questionnaires and surveys as part of their participation in the study they are nonetheless very important,” Martha Nance, M.D., the director of the Huntington’s Disease Society of America (HDSA) Center of Excellence at Hennepin County Medical Center in Minneapolis wrote in an e-mail response to my request for comment. “Knowing that coenzyme Q10 DOESN’T work will spare the HD families of today and tomorrow the expense of the supplement, and the false hope that it created.”

Dr. Martha Nance: trial result ends "false hope" about CoQ10.

“Nobody said that finding a cure for HD would be easy, but I think that HD patients and families should be enormously proud of their efforts in this study a commitment that can only help us with the future trials and challenges ahead,” Jody Corey-Bloom, M.D., Ph.D., the director of the HDSA Center of Excellence at the University of California, San Diego, wrote in an e-mail.

The process of elimination in scientific and clinical research is a slow, meticulous, but necessary part of the quest for treatments. Only one in ten clinical trials results in an effective drug. Understanding what doesn’t work expands scientists’ knowledge of the disease.

We can now divert the resources that were going to be used for the 2CARE study to other studies with a better chance of working, the HDBuzz article pointed out. In fact, its likely that the next year or two will see the launch of several trials targeting specific mechanisms underlying HD, rather than generally beneficial compounds like CoQ10.

Added Dr. Nance: We are actively pursuing many other avenues in HD research, and hope that many people will share the wonderful attitude of my patient (I will call her Susan), who said: ‘So, Dr. Nance, I'm sorry that this one is over, but now can I enroll in another HD research study?!’”

Closing out a complex relationship

For me, the end of the 2Care trial closes out nearly two decades of a complex relationship with CoQ10.

I first started taking an over-the-counter variety in early 1996, just weeks after learning of my mother’s diagnosis for HD. With a 50-50 chance of inheriting the gene for a devastating, incurable brain disorder that was inexorably destroying my mother’s personality and ability to think and walk, I grasped for whatever might provide the slimmest of hope.

In the mid-2000s, I started taking a higher grade of CoQ10 along with other above-mentioned supplements in a study under the Huntingtons Disease Drug Works program, which at the time emphasized a “treatment now” approach for a community desperate for solutions. After the study ended, I continued to take the substances and paid for them out of pocket.

CoQ became part of my daily ritual. I broke up the 600 mg chalky, yellow, sweetened CoQ10 tablet into four parts, which I took methodically at breakfast, lunch, and before and after dinner.

Although I knew there was no evidence about CoQ10’s efficacy, I believe it may have had a placebo effect. At 54, I have passed my mother’s age of onset. Now whatever placebo effect might have existed will disappear. In my particular use of CoQ10 and the other supplements, however, an actual placebo effect is scientifically unproven. In addition, scientists are getting closer to understanding the factors (such as a modifier gene) that trigger HD onset.

Throughout my journey with CoQ10, I always viewed it as peripheral at best. I believed that the best hopes lay with the potential remedies such as gene silencing aimed at the root causes of the disease.

Knowing the complexity of HD, I knew that a dietary supplement such as CoQ10 provided no more than a sliver of hope.

As I bid farewell to CoQ10 and the idea that it could delay onset, Im once again forced to rethink how to survive in the gray zone between my genetic test result and the inevitable onset of an incurable disease. With science as a guide, I'm adjusting what is essentially an attempt at self-treatment.

Saturday, August 09, 2014

Making the threat of Huntington’s disease ‘small stuff’

To reduce anxiety about the threat of Huntington’s disease, I start each day with a deep breathing exercise and meditation.

I started developing this practice in late 1997, two years after learning of my mother’s diagnosis for HD and the devastating fact that I had a 50-50 chance of inheriting the mutated gene. After many months struggling with worry and denial, I had hit rock bottom emotionally. (I eventually tested positive for the HD mutation.)

Browsing at titles in a bookstore – bookstores mattered a lot more before the e-book explosion – I came across Don’t Sweat the Small Stuff… and it’s all small stuff: Simple Ways to Keep the Little Things from Taking Over Your Life, a bestseller by the late Richard Carlson, Ph.D.

Over the next few months, I studied the book’s 100 brief chapters, each prescribing how to achieve calm in our harried world. Some might consider self-help books shallow, but I found this one to have a core of wisdom.

Chapter 1, “Don’t Sweat the Small Stuff,” lays out Dr. Carlson’s basic philosophy, a combination of Judeo-Christian fraternal love with a Buddhist de-emphasis of the desire for material success.

“Often we allow ourselves to get all worked up about things that, upon closer examination, aren’t really that big a deal,” Dr. Carlson wrote. “We focus on little problems and blow them way out of proportion…. So many people spend so much of their life energy ‘sweating the small stuff’ that they completely lose touch with the magic and beauty of life. When you commit to working toward this goal you will find that you will have far more energy to be kinder and gentler.”

Getting calm with deep inhalation

Chapter 63, “Count to Ten,” was pivotal for me.

“When you feel yourself getting angry, take a long, deep inhalation, and as you do so, say the number one to yourself,” Dr. Carlson suggested. “Then, relax your entire body as you breathe out. Repeat the same process with the number two, all the way through at least ten (if you’re really angry, continue to twenty-five).”

The deep breathing “clears your mind with a mini version of a meditation exercise,” he explained. It increases the oxygen in your lungs, reduces anger, and provides perspective, making “big stuff” look like “little stuff.

With time I settled on 20 deep breaths for every morning, followed by a few minutes of quiet relaxation. I usually sit in a lotus position on a carpet or on the edge of a chair or couch with my back arched forward to get the air as deeply into my lungs as possible.

When family or work obligations occasionally make it impossible to meditate at home, I do my breathing while driving or in airports.

When I don’t meditate, my day almost always becomes more stressful, sometimes even sad.

The breathing provides a powerfully calming effect. I feel that I’m doing something good for my brain by increasing the oxygen. By reducing my overall stress level, I hope, I can help delay the onset of HD symptoms.

In the video below, you can watch the demonstration of the technique I gave at the start of my keynote speech at the 2011 HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc., in Palm Springs, CA. Other members of the HD community as well as caregivers and counselors engage in or recommend similar exercises, and a vast bibliography exists on yoga and meditation techniques. The principles here can apply for everybody in any aspect of life.

Increased anxiety, new insights

The past couple years I have included in my meditation a reading from Living Faith: Daily Catholic Devotions. Resonating with many of Dr. Carlson’s points, Living Faith helps me tap my spiritual dimension, longstanding since my childhood in the Catholic church, and contemplate the mysteries of suffering and the Creator’s love.

Over the past couple years, now well beyond the age at which my mother’s symptoms started, I’ve become more anxious about HD as well as things in general. So, early this year, I decided to add a daily reading from Don’t Sweat the Small Stuff to my morning meditation.

A couple weeks ago, I finished.

Rereading Don’t Sweat the Small Stuff brought back warm memories of how I had overcome difficult moments, including depression, in those early years after my mother’s diagnosis – including my own positive test for the HD mutation in 1999.

It also revealed how I’ve usually dealt successfully with the ongoing challenges of living at risk. Rereading the book reinforced the lessons I had learned. It also provided me with new insights.

Some of my favorites are: Chapter 6, “Remind Yourself that When You Die, Your ‘In Basket’ Won’t Be Empty”; Chapter 16, “Ask Yourself the Question, ‘Will This Matter a Year from Now?”; and Chapter 66, “Think of What You Have Instead of What You Want.”

Problems as teachers

Two chapters in particular have helped me reflect on HD: Chapter 17, “Surrender to the Fact that Life Isn’t Fair,” and Chapter 75, “Think of Your Problems as Potential Teachers.”

“One of the nice things about surrendering to the fact the life isn’t fair is that it keeps us from feeling sorry for ourselves by encouraging us to do the very best we can with what we have,” Dr. Carlson wrote. “We know it’s not ‘life’s job’ to make everything perfect, it’s our own challenge.”

Regarding problems, he wrote: “Rather than push away the problem and resist it, try to embrace it. Mentally, hold the problem near to your heart. Ask yourself what valuable lesson(s) this problem might be able to teach you.”

Humility, acceptance, and hope for treatments

This is solid advice. However, isn’t a deadly genetic brain disorder like HD truly “big stuff” that just can’t be meditated away?

I’ve thought a lot about this question as I reread Don’t Sweat the Small Stuff and corresponded with HD-affected friends. They are struggling with the loss of their mental and physical abilities; they can no longer work or drive and need help from others for the simple tasks of daily living.

Recently I also attended the wake for an old friend who died in his early 60s of pancreatic cancer, a mainly incurable condition. I didn’t know he was ill, so his death came as a shock.

I imagine my own HD symptoms, watching myself quietly fade away, losing the ability to write, teach, and engage with my family as we guide our daughter through high school and start thinking of retirement.

That is big stuff!

However, I try to make it as small as possible. When I’m not resorting to my old friend denial – which becomes harder as I approach the inevitable onset – I reflect on two of the key lessons taught by Dr. Carlson and the authors of Living Faith: the need for humility and acceptance.

I will die. As I witnessed with my mother, HD is a horrible way to go.

However, until onset I will adhere to Dr. Carlson’s Chapter 100: “Live This Day as if It Were Your Last. It Might Be!” 

As both Dr. Carlson and Living Faith's authors would agree, living life in that manner includes making the world a better place and engaging with family, friends, and many others. I may die of HD, but the collective work of advocates like me, together with the scientific community and friends and supporters, may help make HD "little stuff" in the future by furnishing effective treatments.

Tuesday, July 22, 2014

Can we afford the costs of orphan disease treatments?

Millions of people in America suffer from rare, or “orphan,” diseases, conditions defined by the government as affecting fewer than 200,000 people. With an estimated 30,000 affected individuals, Huntington’s disease is one of the more common of these disorders.

The pharmaceutical industry has largely ignored these diseases, which number several thousand, because each disease promises too few customers/patients to enable companies to recoup investments in drug research and development and therefore generate a profit. The market usually doesn’t work for people with these diseases.

News about a lawsuit by Arkansas cystic fibrosis (CF) patients against the state’s Medicaid program for its refusal to pay for a highly effective but extremely expensive drug – Vertex Pharmaceutical’s Kalydeco – shined light on this predicament.

In an article titled “The $300,000 Drug,” New York Times columnist Joe Nocera recognized Kalydeco as a “wonder drug” but questioned whether the country can afford the personalized medicine approach that enables scientists to design specialized treatments for very small and specific groups of patients.

With an annual wholesale cost of $311,000, Kalydeco was developed for a subgroup of about 1,100 CF patients with specific genetic mutations. The subgroup numbers about 2,150 patients worldwide in an overall CF population of 70,000 individuals.

“Because patients will likely be taking the drug for the rest of their lives, it could cost millions of dollars to keep just one patient on Kalydeco,” Nocera speculated. “That raises another important question about the coming of personalized medicine. How are we, as a society, going to pay for it?”

Same question for the HD community

The HD community could face this very same question. Because the U.S. has only 30,000 HD patients and 150,000 to 250,000 people at risk of carrying the gene, a potential treatment could cost a lot.

Boston-headquartered Vertex has sought to develop HD treatments since mid-2008. Though the company has made a substantial effort, it doesn’t yet have plans for a clinical trial. (Click here to read more.) Isis Pharmaceuticals, Inc., of Carlsbad, CA, has also worked about as long and is planning to launch a clinical trial in the next year or two.

It’s still too early to project the costs of treatments that have yet to be tested or even fully designed. Other potential remedies are in trials but at best likely remain years from reaching the market.

Furthermore, an HD treatment regimen will likely involve a cocktail of remedies, meaning that patients – via their insurers – will probably have to pay for more than one drug.

Vertex vice president of research Paul Negulescu (left), Gene Veritas (aka Kenneth P. Serbin), and Vertex vice president of biology Beth Hoffman at the company's San Diego facility, September 2010 (photo by Heather Farr, Vertex)

Patient assistance programs

The HD community must remain vigilant regarding the cost of potential treatments. However, failing to consider a number of factors, the coverage of the Kalydeco costs was perhaps too pessimistic about the future.

First, as I commented regarding the impatience with California’s stem cell institute after ten years of operation without a drug, biomedical research is slow by nature. And it’s expensive, with the average cost of developing a new drug in the U.S. at $1.2 billion. Only one in ten clinical trials results in a marketable drug, although the research from the unsuccessful projects provides highly valuable information on what does not work.

In the case of CF, Vertex is at work on another treatment that would reach thousands more patients with different kinds of mutations.

As Nocera himself noted, Vertex provides Kalydeco for free to patients without insurance.

Lundbeck, the pharmaceutical firm that markets Xenazine, which diminishes some of the involuntary movements caused by HD (chorea), provides financial assistance to patients who qualify. Depending on the dosage, the annual wholesale cost of this treatment can reach $50,000 or more, but, according to the Lundbeck website, “85 percent of U.S. patients taking Xenazine have a monthly co-pay of $50 or less before requesting co-pay assistance.”

It’s highly conceivable that the developers of future HD treatments will provide similar kinds of assistance – especially because these firms will have relied on the good will and extensive cooperation of HD families who participate in research studies and clinical trials. However, it’s not clear what the drug companies will charge insurers.

CHDI and pharma giants

After the founding in 2003 of the CHDI Foundation, Inc., a non-profit virtual biotech firm backed by wealthy donors who wish to remain anonymous, pharmaceutical firms small and large started to gain interest in developing Huntington’s treatments.

As a result, the network of firms working on HD now includes pharmaceutical giants such as Pfizer, Roche, and Medtronic.

As a non-profit with the sole purpose of finding HD treatments, CHDI promotes research on Huntington’s and the diffusion of scientific knowledge about the disease. With more researchers and firms involved, the chances for treatments have grown. Having more options could very well mean that treatments would cost less.

By pouring hundreds of millions of dollars into HD drug research, CHDI has created an incentive to produce cheaper drugs.

As it states on its website, CHDI seeks to connect academic research, drug discovery, and clinical development in order to avoid “costly delays to therapeutic development” and make potential treatments a “good investment” that will result in “full clinical development, including licensure and marketing to get drugs to HD patients.”

Similarly, the Hereditary Disease Foundation and the Huntington’s Disease Society of America (HDSA) have supported research that could yield yet additional drugs.

Patient-driven medicine

Thanks to this level of support for HD research, the HD community stands in perhaps a better position than those facing even more rare diseases.

Nevertheless, orphan disease communities in general have reason to feel optimistic about both the development of treatments and their cost, if the vision of one key medical leader becomes reality.

Lee Hood, M.D., Ph.D., one of the scientific giants behind the Genome Project and the recipient in 1987 of the Lasker Basic Medical Research Award (the American equivalent of the Nobel Prize), has developed a plan for more effective and affordable medicine. In 2000, Dr. Hood founded the Institute for Systems Biology (ISB). Located in Seattle, the non-profit ISB teams scientists and technologists from many disciplines to pioneer the future of research in biology, biotechnology, medicine, environmental science, and science education.

In a 2012 speech at the Seventh Annual HD Therapeutics Conference, sponsored by CHDI, Dr. Hood outlined the importance of systems biology – what I think of as the “big picture” of disease – for HD research. Dr. Hood also advocated for the adoption of P4 medicine: predictive, preventive, personalized, and participatory. (Click here to read more.)

“Patients and consumers will be a major driver in the realization of P4 medicine through their participation in medically oriented social networks directed at improving their own healthcare,” Dr. Hood and Mauricio Flores, J.D., wrote in the March 2012 issue of the journal New Biotechnology.

ISB and several collaborating organizations have run some pilot programs in P4. If it is implemented on a wide scale, Dr. Hood predicts that it will revolutionize our healthcare system. Everybody will carry a health-monitoring device, and diseases will be predicted and prevented long before onset as the result of tiny blood samples taken from a pin prick, the article states.

Predicting falling medical costs

Significantly, costs could plummet.

“P4 medicine will require that all healthcare companies rewrite their business plans in the next 10 years or so,” Dr. Hood and Flores wrote. “Many will not be able to do so and will become ‘industrial dinosaurs.’ There will be enormous economic opportunities for the emergence of new companies tailored to the needs and opportunities of P4 medicine.”

The authors projected that savings will result from a series of factors, including earlier and more effective diagnosis of disease; better matching of drugs with diseases and their subtypes; better identification of genetically based adverse reactions to drugs; the ability to “re-engineer” disease-affected biological networks within people in order to reduce the cost of drug development; an increasing ability to deal effectively with cancer; the use of stem cells for replacement therapy and diagnostics; the routine extension of effective mental and physical health into people’s 80s and 90s; an improved understanding of microbes in the body; a deeper understanding of neurodegeneration (the cause of HD, Alzheimer’s, Parkinson’s, and other disorders); and the digitalization of medical and genetic information.

“On another tact, our prediction is that there will be a ‘wellness industry’ that will emerge over the next 10-15 years that will in time far exceed the size of the healthcare industry,” Dr. Hood and Flores affirmed. “P4 medicine is an area replete with economic opportunities.”

Dr. Hood and Flores believe that P4 medicine will “democratize” healthcare.

“The patient (consumer), through social networks, will drive the emergence of P4 medicine,” they wrote. “Because of intrinsic conservatism and sclerotic bureaucratic systems, physicians, healthcare specialists and the healthcare industry will take a back seat to the power of patient-driven social networks in bringing change to the healthcare system. Indeed, patients may be the only driving force capable of truly changing our contemporary healthcare system to the proactive P4 mode.”

This scenario serves as a serious alternative to the dim view that orphan disease communities will remain relegated to high-cost solutions.

Guaranteeing proper care standards

Indeed, a “revolution” has occurred over the past two decades in how patients have related to their doctors and the pharmaceutical industry (click here to read more).

Nowadays, people enter the healthcare system as both patients and advocates for their well-being.

This outlook led the Arkansas patients to sue for the right to have their Kalydeco costs covered.

Their lawsuit offers a striking similarity with the HD community’s pressure on the Social Security Administration and Congress to update the decades-old, inaccurate government criteria for determining disability benefits for Huntington’s patients (click here to read more). The Arkansas plaintiffs in effect have demanded that the state recognize Kalydeco as the standard treatment for their type of CF.

Negotiating the price

The competition of the marketplace, greater efficiency in drug development, and the revolution in medicine outlined by Dr. Hood should put downward pressure on the cost of drugs.

Patient advocates must play a crucial role in this process.

As the late San Diego biotech leader Duane Roth had told me during a dinner with California stem cell leaders in 2008, patient advocates must find ways to appeal to pharmaceutical companies’ primary interest in profits. Advocates need to lobby and court these business leaders.

At the same time, disease organizations such as HDSA and its network of advocates can pressure pharmaceutical companies and government agencies to assure new drugs’ accessibility and affordability.

In some circumstances, government can join in the process of persuasion and even play hardball, as the Brazilian Ministry of Health did in the 1990s in order to convince multinational pharmaceutical firms to dramatically reduce the price of HIV/AIDS medications. The Brazilian government provides HIV/AIDS drugs for free.

“Local production of generics, the possibility of breaking patents, and the offer of technology transfer became instruments for price negotiations with other countries and the pharmaceutical industry, leading to a real reduction in prices on the Brazilian and international markets,” wrote the coordinator of the country’s National STD/AIDS Program.

The marketplace exists, but it is susceptible to politics.

The rhetoric about the $300,000 drug can scare a lot of people. But in the long run, such a cost is not a foregone conclusion.

Friday, June 27, 2014

New California stem cell chief stresses speed and efficiency in search for treatments

A major hope of those facing Huntington's disease (and numerous other diseases) resides in stem cell research.

The new president and CEO of the California Institute for Regenerative Medicine (CIRM), transferring from the pharmaceutical industry, has assumed the helm of the $3 billion organization stressing efficiency, including a pledge to prioritize speedier development of treatments for the many diseases falling within the agency’s scope.

“What I promise I will do is to bring stem cell therapies and treatments to the patients that need them,” C. Randal Mills, Ph.D., chosen to run CIRM by its board of directors on April 30, said in San Diego on June 24 at the third of three “Meet the New CIRM President” events. “That is quite sincerely what I have done my entire career, and the only thing I care about and the only reason I came to CIRM.”

Dr. Mills was introduced by CIRM board chair Jonathan Thomas, J.D., Ph.D. The meeting took place in conjunction with the 2014 BIO International Convention, June 23-26, which showcased the work of leading biotech firms and featured a keynote speech by British business magnate Sir Richard Branson and a moderated Q & A with former Secretary of State and potential 2016 presidential candidate Hillary Rodham Clinton. The convention attracted more than 15,000 participants from all 50 states and 70 countries.

Dr. Mills outlined four questions he said will guide him in decision-making at CIRM.

First, he said, "is whatever we're doing speeding up a treatment reaching a patient?"

Secondly, will CIRM’s activities increase the likelihood of a treatment reaching a patient? There are many “valleys of death,” or dead ends, in stem cell research, Dr. Mills noted.

Third, is CIRM meeting an unmet medical need, as opposed to a condition already successfully dealt with by other medical means?

Fourth, is CIRM doing all this efficiently?

Randy Mills speaks to disease advocates and stem cell industry representatives in San Diego (photo by Gene Veritas).

Taking care of patients

Dr. Mills said his patient-oriented outlook started during his undergraduate studies in microbiology and cell studies at the University of Florida, in Gainesville.

“During that time I worked as a medic in the emergency room,” he told the audience. “I saw and dealt with a lot of patients and got a pretty good sense of what patient care was like and delivery was like.”

Dr. Mills obtained his Ph.D. in drug development, also at the University of Florida. After that, he worked for the university as a specialist in orthopedic transplants. With a partner, Jamie Grooms, he started a company within the university specializing in spinal fusion, one of the most common of orthopedic procedures.

In 1995, the two “spun out” the company from the university, calling it University of Florida Tissue Bank. That year the company had $1 million in revenues, with only six employees. Five years later, when the firm went public, it had 550 employees and annual revenues of $120 million.

“More importantly, (we were) producing regenerative medicine solutions for patients all across the United States on the scale of hundreds of thousands of implants, and better implants, a year,” Dr. Mills explained.

“It was during that time that I really learned a lesson. And the key lesson is: if you take care of patients, then your business is going to follow. If you don’t take care of the patients, there is nothing you can do in order to get your business to come along.”

Randy Mills (Osiris photo)

Key achievements at Osiris

In 2004, at the age of 32, Dr. Mills was recruited to become the president and CEO of Osiris Therapeutics, Inc., a Columbia, Md.-based company that commercialized the world’s first stem cell product, Osteocel, for bone regeneration. According to Mills, that product has brought a total of $1.5 billion in revenue to Osiris.

Under his leadership, in May 2012 Osiris received approval to market the world’s first systemically infused stem cell drug, Prochymal, which it developed to combat pediatric acute graft-versus-host disease. (It was approved in Canada but is also available in the U.S.; click here to read more.)

This condition occurs in patients receiving bone marrow transplants that reject the person and attack the body.

“Patients will literally peel out of their skin,” Dr. Mills said, describing the horrors of the condition. Patients with the condition have a life expectancy of only 87 days, he added.

With Prochymal, patients got better two-thirds of the time, he said.

Dr. Mills attributed Osiris’s success to its intense focus on patients.

“The board room is covered with pictures of our patients,” he said.

“That’s my mission with CIRM,” he continued. “We’re going to focus on the patients, and everything else is going to come along. If you get a sense of urgency from me, it’s because, if a life expectancy of a disease is 87 days, missing a month or two months or three months are actually real patients dying.”

Putting criticisms of CIRM in perspective

The stem cell board’s selection of a new CEO with long experience in the drug industry takes place a decade after California voters created CIRM by approving Proposition 71, the California Stem Cell Research and Cures Act.

According to CIRM’s statistics, so far four clinical trials directly funded by the organization have taken place – including an observational study of Huntington’s disease patients at the University of California, Davis, the basis for a potential CIRM-supported treatment trial envisioned by Dr. Vicki Wheelock and Dr. Jan Nolta (click here to read more).

Six additional trials for different conditions are based on “discoveries made by our grantees when they were carrying out CIRM-funded research,” CIRM reports (click here to read more).

According to Kevin McCormack, CIRM’s senior director for public communications and patient advocate outreach, five more directly funded trials for various diseases will start by the end of 2014.

CIRM’s efforts have not yet produced a drug, although one or more treatments could arise from the clinical trials.

Some in California have criticized CIRM’s performance. The San Francisco Chronicle, for instance, editorialized that CIRM “hasn’t lived up to its hype” and has compiled a “decidedly mixed” record, although it recognized that California voters had “outsize expectations when they passed Prop. 71.”

The Chronicle further noted that “it’s been a struggle to get the agency to use the best organizational practices. In 2012, a blue-ribbon committee of the National Academy of Sciences released a report after a yearlong review that found conflicts of interest on the CIRM board that threatened to ‘undermine respect for its decisions.’ It also found significant flaws in the agency’s grant-approval process.”

The editorial added: “Progress on stem cell research has been significant – but it’s been the progress of the tortoise rather than the hare.”

In general, news coverage of CIRM has been sporadic. After all, news outlets typically don’t report on the work of scientists in the trenches.

In this blog, I have provided frequent coverage of HD science as well as related stem cell research. In my 15 years writing about HD science, I’ve learned that scientific progress is slow by nature. It’s not just the CIRM projects that take a long time to produce results.

From my standpoint, stem cell science has produced a “growing array of possibilities” for treatments and the “potential for a new era in human health,” as I noted after attending the 2013 World Stem Cell Summit (click here to read more).

Producing treatments is also extremely expensive. According to Jim Greenwood, president and CEO of the Biotechnology Industry Association, which organized the Bio Convention, developing a new drug in the U.S. costs an average of $1.2 billion. CIRM and/or its affiliated researchers will need to partner with the pharmaceutical industry to bring treatments to market.

In the HD community, we earnestly hope for stem cell treatments, but we’re also aware that a “cocktail” of different approaches (like gene therapy) will likely be needed to deal with the complexities of the disease. We’re rooting for all the researchers to find keys to treatments.

Crucial experience with clinical trials

With the need to show results, it’s not surprising the CIRM board chose a new CEO from the business world.

As noted by David Jensen, author of the blog California Stem Cell Report, CIRM’s previous two presidents, Zach Hall, Ph.D., and Alan Trounson, Ph.D., came from “largely academic and non-business backgrounds…. Decisions are likely to come faster under Mills.”

In his introduction of Dr. Mills at the San Diego meeting, CIRM board chair Dr. Thomas said that the new CEO met the many qualifications sought by the organization, including familiarity with the process of running stem cell clinical trials and seeking approval of drugs from governmental agencies.

“Very few people can say they’ve had more experience in clinical trials in stem cells,” Dr. Thomas said. “Very few people can say they’ve had more experience with the regulators, not just from the U.S., but from other countries as well.”

Randy Mills (left) and CIRM board chair Jonathan Thomas (CIRM photo)

The board also sought someone familiar with CIRM. Dr. Mills has spent the last five years as a reviewer of proposals made to CIRM by stem cell researchers seeking funding. (Click here to read more.)

During the audience Q & A, one woman asked Dr. Mills what he would do to make the grant review process more “transparent.”

Recognizing that the process wasn’t “perfect,” Dr. Mills nevertheless said he believed it was “pretty good” and already “remarkably transparent,” with world experts involved in the reviews. He reminded the audience that no “divining rod” exists to pick perfect projects. He added that he will work for quicker approval of worthy applications.

Keeping CIRM running

Jeanne Loring, Ph.D., a leading expert on stem cells and Parkinson’s disease at The Scripps Research Institute in San Diego, wanted to know how Dr. Mills would prioritize CIRM spending from now through 2017, when the last of the agency’s grants will be made and the original CIRM allocation of $3 billion might run out.

The agency still has about $600 million in uncommitted funds. In all, $1.5 billion of its $3 billion budget has yet to be spent, as many budgeted projects remain in progress.

“Let’s be careful on speculating on when CIRM is going to run out of money,” Dr. Mills said in response to Dr. Loring’s question. “That (2017) would be the absolute earliest. This is an important thing for people to understand: in order for that date to be true, things have gone incredibly well. Everything we funded, 100 percent of it, has worked. If that ‘17 date happens, I’m a happy guy, because we are rattling off diseases left and right.”

Dr. Mills explained that CIRM does “milestone-based funding.”

So we’ll fund your project, but if you don’t hit your milestone, if it’s not working, we stop funding,” he continued. “That seems like a pretty good idea. So the projections on these running out of money is assuming that everything is going along. Everything’s going along, and we can’t get California to say, ‘Let’s keep doing it’? In a more practical sense, we’re not going to run out of money by then, and everything’s not going to work perfect. My job is to run CIRM as efficiently as we possibly can to develop treatments.”

According to spokesperson McCormack, the CIRM board can still redirect funding from the $1.5 billion as yet unspent. If a project comes in under budget, CIRM can also redirect savings to other projects, he added.

Some stem cell advocates such as Don Reed, who served on the executive board for the Prop 71 campaign, are already advocating a second round of CIRM funding to be requested from the state by way of another ballot proposition to be put before the voters. (You can watch Reed, HD advocate Judy Roberson, and children’s neurological disorders advocate Alex Richmond speak about their experiences by clicking here.)

Dr. Thomas has also spoken publicly about seeking private sources of funding for CIRM. In this vein, Dr. Mills’ experience in capital markets – one of the sought-for qualities in a CEO noted by Dr. Thomas – could prove helpful.

"California (undertook) a very important task in creating a funding stream for stem cell research," Clinton, referring to CIRM, said during her Q & A at the Bio Convention. "Other states have followed suit, when it looked as though the federal government would not be doing that. States have a role to play, but we need a national framework."

Our urgency for cures

Huntington’s disease advocates participated in the “Meet the New CIRM President” events in San Diego as well as Los Angeles and San Francisco.

One of those participants, veteran advocate Frances Saldaña of Orange County, sees Dr. Mills’ appointment as a positive step.

“I really liked Randy Mills,” Saldaña, a mother of three children stricken with juvenile HD, told me in an e-mail about her encounter with Dr. Mills at the June 10 Los Angeles meeting. “I feel that he really understands our urgency to find cures.”

Saldaña’s daughter Margie Hayes – who became one of the very first HD patients to advocate for CIRM support for Huntington’s stem cell research when she spoke at a December 2007 CIRM board meeting – succumbed to the disease on February 7. Hayes had just turned 44. She is survived by her husband Craig and two teenaged children.

Saldaña’s husband also died of HD, which has afflicted several other members of her extended family. She was recently presented the 2014 Living Our Values Award by Michael Drake, the chancellor of the University of California, Irvine (UCI), for her work in HD community service. Saldaña is the founder of HD-CARE, an Orange County care organization affiliated with UCI’s Institute for Memory Impairments and Neurological Disorders.

Saldaña said of Dr. Mills: “In the case of HD families, he completely understands that we're in a race against time, as our families are dying.”

As mother Frances Saldaña (left) looks on, Margie Hayes tells about her struggle against HD at the CIRM Spotlight on Huntington's Disease, Los Angeles, December 12, 2007 (photo by Gene Veritas).

Tuesday, June 17, 2014

Fear of onset: the inescapable reality of the Huntington’s disease gene carrier

As a carrier of the devastating and ultimately deadly genetic mutation for Huntington’s disease, I have worked hard to live as normally as possible. This blog is replete with examples of coping strategies and ways in which I have strived to balance work, leisure, family, and HD advocacy.

At 54, my HD-stricken mother was rapidly declining, heading towards a troubling and terrible death at the age of 68. Today, at 54, I continue to enjoy the gift of good health – the major reason I can often feel “normal.” Scientists are searching to discover the reasons for the wide variability in the age of onset observed in people, like my mother and me, who have the same level of mutation.

Yet my fear of onset often creeps back in.

Recalling a time of innocence

The past few weeks I’ve been so busy with the “normal” that I’ve had no time to write in this blog.

At work, I’m transitioning from five-and-a-half years as departmental chair to a year-long sabbatical, during which I aim to write a long-gestating book on the history of former Brazilian radicals now in positions of power. I’m also teaching an intensive, three-week summer session course on the history of Mexico. The next year promises to be an engaging, challenging time.

The transition has required an understandably disruptive move to a new office, but also allowed me to dispose of unneeded books and papers.

As I rummaged through old files and letters, I found myself reminiscing about the seemingly innocent period of my life before Huntington’s struck my mother.

It would be great, I thought, not to have to worry about onset. Without the threat of HD, which led me to expand my scholarly endeavors into the history of science, technology, and medicine, I could once again focus exclusively on the history of Brazil.

Watching for early symptoms

I’m also working out the logistics for my upcoming trip to the University of Iowa in Iowa City for my follow-up participation in PREDICT-HD.

An “observational study of the earliest signs of Huntington’s disease,” PREDICT-HD has aimed at creating key standards for predicting onset and measuring the rate of disease progression.

I’ll be staring onset in the face – and wondering about my performance on the battery of tests.

A visit to Auspex

I discussed my fear of onset and reiterated our community’s urgent need for effective treatments in an intense, 80-minute get-acquainted conversation last week with Pratik Shah, Ph.D., the president and CEO of Auspex Pharmaceuticals.

An investor-funded San Diego firm focused exclusively on central nervous system disorders and orphan diseases, Auspex struck me as made-to-order for the fight against HD. It is currently conducting clinical trials for a drug called SD-809, aimed at treating chorea, the involuntary abnormal movements produced by HD.

SD-809 (dutetrabenazine) is a potentially improved version of tetrabenazine, a chorea treatment currently marketed by the pharmaceutical company Lundbeck under the name Xenazine. If SD-809 works as intended, it will require fewer dosages and produce fewer side effects than tetrabenazine.

However, tetrabenazine does not affect the root causes of HD, nor is SD-809 expected to.

Auspex seeks to use SD-809 as a platform to research and develop drugs that would attack those causes.

Dr. Shah and I agreed to schedule soon an interview so that I can write an in-depth article on Auspex’s efforts.

I told Dr. Shah about a middle-aged, HD-afflicted man I had met who had maintained much of his cognitive abilities but suffered from strong chorea. However, tetrabenazine controlled the chorea, enabling him to keep driving, something most HD patients have to give up.

Tetrabenazine’s approval by the Food and Drug Administration had come too late to benefit my mother, who died of HD in 2006. I told Dr. Shah that she had taken another medication to control her chorea, which was relatively mild, although she had initially had strong chorea in her legs at night. In general, chorea was the least of my mother’s problems with HD, which devastated her cognitive abilities and caused serious psychiatric difficulties.

I also related my recent conversation with a former HD support group colleague who has had symptoms for a number of years.

Speaking to a symptomatic individual, I pointed out, provides me a terrifying glimpse of my own future.

A powerful HD dream

As I processed these latest events in my journey with HD, my unconscious mind produced a powerful dream.

I awoke from the dream at 5 o’clock on Sunday morning. Afraid that I would forget its content, I went to my home office to type out the details on my computer, and to outline this article.

In the dream, where I am meeting with other asymptomatic HD gene carriers, I encountered the same HD-affected man whom I had mentioned to Dr. Shah.

The people in our dreams often represent aspects of ourselves. In my interpretation, thinking of a symptomatic man in the context of a group for the asymptomatic meant that I was wrestling with the inevitable reality of my onset.

Tapping into the soul

As the dream continues, I fly to New York City on HD advocacy business.

In my hotel room, I start to write a blog article describing the recent HD-related aspects of my life. I have my trusty laptop with me but am oblivious to it. Instead, I write in longhand on a white legal pad. It’s the way I sometimes wrote in college or now write on airplanes or when I’m revising a draft I’ve printed out.

There’s something pure and primal about this form of writing. It’s the way I first learned to write. I’m crossing things out, jotting down ideas, and flipping back and forth through the pages to read and make adjustments. At one point I think that, because I don’t have much time before my evening HD meetings, I’ll switch to the computer. But I want to first eke out some more lines on the pad.

The dream was compelling me to practice the craft I have enjoyed since childhood, to tap into the soul that defines me.

I later recalled the photograph that an HD-affected man posted of himself illustrating his superb kickboxing skills before the disease struck. He wanted to remember himself at the height of his powers.

The dream, I think, reflected my fear that HD will rob me of my writing skills.

A metaphor for facing HD

Later in the dream, I go to a restaurant along with two other asymptomatic gene carriers and my friend, blog editor, and HD alter ego, Norman. One of the gene carriers, I recognize, is the symptomatic man I’d encountered earlier in the dream, only transformed into a healthy individual. On the way there, I give each gene-positive man a bear hug. I feel deep brotherly love towards these men.

A native New Yorker, Norman describes the restaurant as a very different and unique place. He says it’s called Pub Med.

We seem to be on the Upper West Side of Manhattan. Evening is approaching.

The restaurant is made of recently hewn, unpainted pieces of wood, which are also used as furniture: benches and small, round tables. It’s outdoors, located in the middle of a square where I can hear kids playing on swings and moms walking their kids. There are small stores on the edges of the square, too.

But there’s something very strange: the benches and tables are stacked on top of one another in a pyramid-like fashion. They rise about 30 feet. We climb up and look for a place to sit. Norman is sitting with the first gene-positive person while, at another table, the second gene carrier continues to explain to me the nature of this restaurant-structure and how to sit on it without falling.

I'm still standing. However, as I try to sit down, some of the tables and benches near me shift down or fall off suddenly and unpredictably. I’m afraid that I’ll fall off. The second gene carrier seems to know well how to deal with it. He’s experienced and seems to take it all in stride.

As I strive to keep my balance on the structure, I gaze at a different kind of Manhattan skyline. On the horizon, I see some burning buildings. Referring to the restaurant-structure and the buildings ablaze in the distance, I tell the second gene carrier: “I can think of no better metaphor to describe living at risk for Huntington’s disease.”

Building hope, pondering onset

The dream, I think, represented my fight to continue advocating for the HD cause.

Manhattan is headquarters for three key HD organizations: the CHDI Foundation, Inc., the Hereditary Disease Foundation, and the Huntington’s Disease Society of America. Along with other organizations and scientists around the world, they hold the key to finding treatments.

Norman has taken my family and me on a walking tour of Manhattan. He urged me to start this blog. In both the dream and real life, he has acted as a kind of guardian angel in my fight against HD. I believe that the Norman of the dream also symbolizes my own internal editor, who, like the real-life Norman, the author of a richly detailed and public-spirited watchdog blog on Brooklyn's Atlantic Yards project, strives to produce in-depth and understandable reports.

Along those lines, I had told Dr. Shah I would read scientific articles about SD-809 before our planned interview. I believe that the Pub Med restaurant represents my desire to prepare thoroughly for an interview regarding the potentially life-saving work done at Auspex. In reality, PubMed, a well-known research tool, has more than 23 million citations from biomedical literature, life science journals, and online books.

I explained to Dr. Shah that in this blog I seek to provide the HD community with information about potential treatments, breakthroughs, and challenges.

My goal is to provide the community with hope, and advocate for change.

The dream, I believe, also reflected my continued striving for internal equilibrium as I ponder the kind of onset I will experience.

Will I falter like an HD person who can no longer control movements and mind? Will I continue to work and drive? Will I be able to help support my daughter as she studies in college? Will effective treatments arrive in time to at least reduce the severity of symptoms – and prolong my life?

These are the inescapable questions of my reality as a Huntington’s disease gene carrier.

Thursday, May 29, 2014

Anonymous donors, confidentiality, and how we all must work to defeat Huntington’s disease

Now that Bloomberg Businessweek has outed the anonymous philanthropists who for nearly two decades have funneled more than $700 million into Huntington’s disease research, a financial mystery has been solved.

However, as the HD community benefits from the generosity and foresight of private funding, a hugely more significant question persists for HD families, researchers, physicians, and advocates: what steps must the community take next to discover treatments, and how can we complement the scientific work funded by philanthropy?

According to the May 8 online article, “The $13 Billion Mystery Angels,” the three philanthropists run two charitable trusts valued at $9.7 billion, larger than any other U.S. philanthropic entity except for the Gates, Ford, and Getty foundations.

The trusts have given $13 billion to numerous causes – including the HD-focused Hereditary Disease Foundation (HDF) at first and then the CHDI Foundation, Inc., a non-profit, virtual biotech founded in 2003 to discover HD treatments. According to the article, by 2011 the philanthropists’ annual HD donations had surpassed $100 million – an enormous but much-needed sum, more than the National Institutes of Health (NIH) was putting into the search for treatments. The Huntington’s Disease Society of America (HDSA), Huntington’s Disease Drug Works (HDDW), and the Huntington Society of Canada also received donations, according to a graphic accompanying the article.

As someone who has tracked CHDI since 2007 and reported on its meetings, including my role as keynote speaker at the Sixth Annual HD Therapeutics Conference in 2011, I’ve long noted in this blog that wealthy people were backing CHDI, with annual expenditures in the tens of millions of dollars.

In one sense, the article clearly raises the profile of HD by linking it to one of the U.S.’s most extensive charitable efforts. However, because the article focused so much on how the donors got their wealth and the steps they took to keep the donations anonymous, it failed to make an important point: fighting HD is a monumental task that can do enormous good for humanity, not merely by lessening the suffering of those afflicted by HD and their families, but also by attacking brain diseases in general.

Although the amount of money is remarkable, I’m even more impressed with the intense focus of the HDF and CHDI, along with numerous researchers around the world, on solving one of the knottiest scientific challenges of our era: treating a genetic brain disorder that produces a triad of symptoms (involuntary movements, cognitive loss, and mood and behavioral issues) and results in a slow and ugly death. The researchers include many hard-working graduate students and postdoctoral fellows doing critical groundwork on the disease.

Scientists listen to a presentation at the Ninth Annual HD Therapeutics Conference, organized by CHDI, Palm Springs, CA, February 2014 (photo by Gene Veritas).

However, more than two decades after the monumental discovery of the HD gene, researchers still haven’t found a way to save tens of thousands of HD patients and gene carriers like me from the ravages of the disorder. I was both frustrated and devastated as I watched HD reduce my mother to a mere shadow of herself. She died in 2006 at the age of 68. “I’m next,” I thought.

Judging from the comments posted on the Businessweek site, the exposé of the donors both fascinated and angered readers. We should not let the emotional response sidetrack us. We can use the article as an opportunity to reflect on our predicament and redouble our efforts.

Many individuals in our community may not be wealthy, but we all have something to give. It’s crucial to participate in – and encourage others to join – research studies and clinical trials to advance the fight against this enormously complex disease.

Gratitude and hope

First and foremost, the article leads me to be thankful for the donors’ enormous generosity.

Though the article questioned the web of anonymity behind the foundations, there’s another way to look at it. Through their anonymous giving, the three philanthropists have followed one of the most profound teachings of the Judeo-Christian tradition.

“But when you give to the needy, do not let your left hand know what your right hand is doing,” Jesus exhorted his listeners in the New Testament of the Christian Bible.

Maimonides, the 12th century Jewish philosopher and scholar, described charitable giving in terms of an eight-rung ladder that ranked anonymous giving at the top.

CHDI, along with its collaborators and other HD organizations, brings me the hope of avoiding my mother’s medical fate. The CHDI-sponsored therapeutics conferences always leave me electrified with the possibility of treatments.

“In a nutshell, CHDI is like a miniature Manhattan Project to stop HD,” I wrote shortly after my first visit to one of the organization’s offices in 2009. “The researchers’ excitement and confidence are palpable.”

I yearn for the day when I can personally thank the donors for helping to save me from HD.

Breaching anonymity

In this article, I have purposely not mentioned the donors’ names, because I want to respect their desire for anonymity.

The Businessweek article breached that anonymity. Journalists tweeted the story, and websites linked to it. Given the nearly 1 million print subscribers to the magazine in more than 150 countries, and even more readership online (24 million unique hits per month for and, the article surely will persist.

In an instant, the decades-long anonymity of the donors’ charity vanished.

Although our celebrity-conscious society tends to treat wealthy people as devils or demi-gods, I pondered how the philanthropists are people no different from anybody else, and how the article could impinge on the donors’ professional and personal lives.

Upholding confidence, providing perspective

While wanting to give anonymously is not the same as aiming to keep one’s health status private, the situation does have echoes with my experiences regarding HD and confidentiality.

The need to protect confidentiality hit home immediately after I learned of HD for the first time with the news of my mother’s diagnosis in late 1995. People had the right to keep genetic status private – as with most medical information – to prevent against discrimination in the workplace or the purchase of insurance.

At my very first HD support group meeting in January 1996, the facilitator stressed that everything shared by the participants had to be kept strictly confidential. Later, when I joined the board of HDSA-San Diego, I heard a similar exhortation about confidentiality from the chapter president at the start of every monthly meeting.

As I have chronicled in this blog, my deep need for confidentiality led me to hide in the “terrible and lonely HD closet.” Only in 2012 did I definitively go public by publishing an article, authored with my real name, in The Chronicle of Higher Education, but only as the culmination of a long, deliberate, and psychologically painful process.

Most people in the HD community shun such exposure because of the stigma and discrimination long associated with the disorder. As I can attest, anonymity can also serve as a powerful form of denial.

At the same time, I feel obligated to try to look at HD thoroughly. I’ve pledged to my readers a “realistic and unapologetic” view of Huntington’s disease that includes critical analysis of media coverage.

That stance has raised awareness about the disease, provided crucial historical perspective on HD advocacy, and suggested ways in which people can cope with their own struggles with stigma and silence.

Informative communication

Looking ahead, the HD community must prepare itself to respond to both positive and negative news.

Along with families’ stories of sorrow and courage, the burgeoning scientific knowledge about HD and the approach of long-awaited clinical trials will assure that HD continues to make headlines.

Indeed, many in the HD community are now telling their stories in public. We must leverage the capacity of our media-savvy advocates, who include authors, journalists, filmmakers, bloggers, participants on social media, speakers at public hearings, and people featured in newspaper stories and on radio and TV programs.

In organizations such as the Huntington’s Disease Youth Organization (HDYO), young people in particular are working to de-stigmatize HD by confronting the health and social implications of the disease early in life.

We might also consider an idea I’ve floated in conversations with several HD organizations:  the creation of an advocate-run HD news agency to produce and share detailed coverage of vital matters left uncovered by other HD information outlets.

Informative communication educates people about HD and can inspire uninvolved HD families to become advocates.

Action in the public arena

The HD community must remain attentive to other impacts from the outing of the donors, including the potential effect on the drive for treatments.

In a comment on the article, HD activist BJ Viau feared that the donors might stop giving to the HD cause. Although there’s no indication the funding stream will diminish, we can’t predict the future.

The $9.7 billion in the donors’ trusts provides a very large funding base for supporting HD research and the other areas they support. Indeed, it is larger than most people in the HD movement could have imagined.

What’s worrisome is not only that NIH funding for HD is less than the private funding, but also that NIH funding has been cut. Many scientists, including university researchers, rely on the NIH. With diminished funding, the pace of HD research, especially basic knowledge about this exceedingly complex disease, could slow. (Click here to read more on the outlook for public funding of science.)

As Robert Pacifici, Ph.D., CHDI’s chief scientific officer, told me in my very first interview with him in 2009, the cure for HD could very well come from “left field.” That means a young graduate student funded by the NIH might be the one with the eureka moment.

Robert Pacifici, Ph.D., CHDI's chief scientific officer, addresses the audience at the 2014 HD Therapeutics Conference (photo by Gene Veritas).

According to the Businessweek article, the philanthropists lobbied Congress to “provide more generous tax treatment for donors who target rare diseases.” Such a plan would help HD and myriads of other orphan diseases that generally are ignored by the large pharmaceutical companies. As one of its key achievements, CHDI has involved several of these companies in the search for treatments.

The HD community will need to continue pressuring the federal government for public support of HD research and health and science research in general.

Avoiding complacency

Also, I believe the HD community must guard against a sense of complacency after learning of the philanthropists’ immense resources.

Given such philanthropy, it’s very easy to think that someone else has control of the situation and can develop treatments without increased participation of HD-affected individuals and their families in support groups, HDSA events, advocacy initiatives, research studies such as the CHDI-sponsored Enroll-HD, and clinical trials. As a registry of affected and at-risk individuals, Enroll-HD will play a key role in meeting the enormous challenge of signing up people for such trials. (Soon I will post a detailed update on Enroll-HD.)

We all can participate in some way.

“Now that the news is out there and the community has to think about the potential impact, I would hope that there is a greater awareness of the need for respect, collaboration, and community,” HDSA CEO Louise Vetter told me, after I requested a comment. “Because whether it’s a penny or $13 billion, the contributions are all important as we save lives.”

We must all redouble our efforts. Scientists, drug hunters, physicians, and other researchers are working intensely to determine the next steps on the path to treatments.

Without HD families’ participation, they cannot advance.