No time for complacency: get ready for HD clinical trials

In the past few years, scientists have made huge strides towards treating and perhaps even controlling Huntington’s disease, whose killer gene inhabits every cell of my body. While scientists scrupulously avoid providing false hope, even the most pessimistic among them now talk of “when” a treatment or treatments will come, not “if,” as international HD spokesperson Charles Sabine observed last October at the annual Huntington’s Study Group conference in San Diego, CA.

That’s enormous progress, compared to a decade ago, when practically no pharmaceutical companies showed interest in HD.

But this is no time for complacency. On the contrary, as labs ramp up for potential clinical trials to test the first group of the 700-plus potential “drug targets” for HD, many daunting challenges and tasks remain.

I plan to deliver this message in a speech this coming Saturday, July 30, at the 2011 Inaugural Clinical Research Symposium of the Northwest Chapter of the Huntington’s Disease Society of America (HDSA) at Evergreen Hospital Medical Center in Seattle, WA (click here for the program). The speech will be titled “What HD Families Should Know about Clinical Trials: Initial Thoughts from a Gene-Positive Activist.”

The clinical trial administrators will need a large number of symptomatic people to participate, ranging from 20 to as many as a couple thousand people per drug. With only 30,000 people in the entire U.S. affected by HD, it may prove impossible to fill the numerous spots in the trials.

That is why CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative,” has inaugurated Enroll-HD, the first-ever worldwide database of at-risk, gene-positive, and HD-affected people, in order to expand the base of possible trial participants.

All must chip in

As advocates like Charles and me have pointed out, those active in organizations such as the Huntington’s Disease Society of America (HDSA) can no longer limit our focus to fund-raising. At-risk, gene-positive, and affected people must also collaborate with the researchers and physicians in the process of planning and implementing the trials.

Preparing for potential trials requires that we care for our health as much as possible.

And, as I wrote in 2009, the untested in our community, who constitute a majority of the at-risk, need to muster the courage to learn their status. With the hope of treatments, refusing testing makes less and less sense. And, if people don’t get tested, they can’t participate in a trial.

In short, if we all don’t chip in, treatments won’t be found.

The painful barrier of denial

Chances are, if you read this blog, you already agree with this outlook. You’re probably active in the HD effort in some way. So, as they say, I’m preaching to the choir.

We need to reach out to those in the community who shun involvement, usually out of fear, and sometimes out of ignorance.

I know all too painfully how denial works.

My mother Carol died of HD in 2006 after battling HD for nearly two decades. Her at-risk, untested brother and his wife hid the truth about her disease from their children and their families by attributing Mom’s symptoms to “mental problems.”

A split family

I am also estranged from my own sister, the untested mother of three at-risk, untested adult sons whom she conceived before my mother’s diagnosis. She prefers to do nothing, because she does not believe, or is unaware, that there is hope. She is completely uninterested in advocacy, research, and trials.

As a gene-positive activist, I personify the knife-edge of HD for my family. My sister became especially uncooperative after the birth of our “miracle baby,” who tested negative in the womb. My sister was jealous for two reasons: we had a daughter, and she was HD-free.

In reading this description of my own family, many will knowingly nod in agreement. Denial is powerful, and it is everywhere. Combined with the sorrow, frustration, anger, and fear provoked by HD, it splits families apart.

I have fought back against the threat of HD by participating in numerous observational trials and advocating for the cause.

But I have yet to figure out a way to involve family members so deeply in denial – and so angry at me whenever I raised the issue of HD, directly or indirectly.

Living by example

As Charles observed, it will be truly tragic if people are not ready for clinical trials.

But we must not give up. Through this blog and my activism I have met many people new to HD and looking for ways to help. We need to welcome these individuals and their families with the greatest of attention – and love.

And we must live by example, because, in the end, our actions will carry far more weight than our words.

Defining success together

The HD community also can participate actively in the clinical trial process by helping researchers, physicians, drug makers, and the federal Food and Drug Administration (FDA) define a successful drug and how to measure that success.

HD causes a triad of symptoms: motor (shaking known as chorea and problems with coordination), cognitive (memory and mental abilities), and psychiatric (emotional disturbances). For a long time, scientists have spoken of the need for a “cocktail” of drugs to combat the triad and their numerous causes in the brain and brain cells.

So far, only one HD drug – tetrabenazine – has received FDA approval. Marketed by Lundbeck as Xenazine, this medication reduces chorea but does not affect the causes of HD.

The new generation of drug targets would indeed attack the causes. Researchers and drug makers theorize and hope that these targets would improve or perhaps even eliminate particular symptoms, but many of these new kinds of drugs represent uncharted scientific territory. Until the trials get underway, nobody will know how patients will respond.

So, even before trials start, patients must help define specific outcomes for the trials.

Maintaining functionality and personality

During the question-and-answer session after my May 17, 2011, speech at Alnylam Pharmaceuticals, I outlined what I thought were signs of success.

“From my standpoint, wow, maybe I will never have symptoms of Huntington’s disease,” I said in reflecting on the proposed Alnylam RNA interference drug, intended to attack the disease at its genetic roots and possibly ready for a Phase I trial as early as 2012. “That would be my hope as a patient.

“For the longest time, it’s like, ‘Well, you’re going to get sick.’ The question is: ‘When are you going to get sick? And how sick are you going to get? And what can you take to stop it?’…

That response came from my individual perspective as a gene-positive, asymptomatic individual – what the scientists refer to as the “presymptomatic” stage of HD.

But I also gave my opinion as to what symptomatic HD patients might want from a drug. I thought of my mother, who had been reduced to a “mere shadow of herself.”

We need drugs that will help people maintain their “basic functionality” and personalities. A bit of chorea would probably be acceptable as long as a person retains his or her mind and can go to work, I said.

“People want to keep their personality with this disease,” I said. “They want to be recognized as individuals. They don’t want to be seen as sick; they don’t want to be seen as drunk; they don’t want to be seen as disabled individuals.”

But I’m just one voice. More people need to give their opinions on this still very open question.

Strengthening the patient-researcher bond

As is often the case, I have only just scratched the surface of one of the many issues surrounding Huntington’s disease.

It’s clear that we all need to educate ourselves about the kinds of medicines under consideration and how they might affect the disease.

I hope to do my small part at the Seattle symposium. Across the country, our community needs more events such as this.

But in addition to speaking, I want to brainstorm with the audience about the definition of pharmaceutical success and absorb the other speakers’ ideas about clinical trials.

The HD community has a long reputation as one in which patients and researchers collaborate effectively. Now, as we get ready for historic clinical trials, we need to further strengthen that crucial bond.

Some reflections on being named 'HDSA Person of the Year'

With a feeling of great humility and immense responsibility I received the news that the Huntington’s Disease Society of America (HDSA), at its national convention on June 25 in Minneapolis, had named me the 2011 HDSA Person of the Year.

As I wrote here on June 21, I was excited about attending an HDSA convention for the very first time. Alas, that same day I came down with a fever and nasty sinus infection and could not travel.

I did not know about the award. At home recovering, I happened to check e-mail on the night of the 25th. I was stunned! Several messages stated that I was receiving the award and that the announcement prompted a standing ovation. (A record 1,000-plus people attended the convention.)

Don Barr, the chairman of the HDSA Board of Trustees, and Louise Vetter, CEO, presented the plaque, accepted in my absence by trustee Rob Millum, my friend and also a member of the HDSA-San Diego board.

An award for inspiration

HDSA gives this award “to someone who has been an inspiration to others,” Barr told the audience at the HDSA closing ceremony. He noted my work as a member of the HDSA-San Diego board, gene-positive blogger, stem-cell research advocate, and speaker at biotech companies.

Above, Don Barr (left), Rob Millum, and Louise Vetter with my plaque (photo by Ashley Miller). Below, a detail of the plaque (click on image to see larger view) (photo by Gene Veritas).



Barr stated that I had “given a face to this often faceless disease” and “inspired countless individuals who are at risk or gene-positive to express themselves without fear and to let them know that they are not alone in the face of HD.”

For those who fight

Shana Martin, the HD activist, top athlete, and model, posted a note of congratulations on my Facebook page, as did friends and acquaintances in the HD community.

“I am stunned and flattered to receive this recognition, and sad that, because of illness, I could not attend the convention,” I responded to these notes. “I want to remember my mom Carol, who died of HD in 2006, and my ‘HD warrior’ father Paul, her caregiver, who died in 2009. The honor is for the battle they fought – and for the battle that our entire community fights each day.”

On that night, I deeply missed Mom and Dad. They would have been proud of me. I felt sorrow that the collective efforts of HDSA, researchers, and advocates like me had not produced a treatment in time to save Mom, who died at the age of 68 after battling HD for more than 15 years.

My parents, Paul and Carol, in January of 2004 (photo by Gene Veritas)

I know, too, that this award is not just for me, but for everybody affected by HD: the at-risk, the gene-positive, the symptomatic, the families, and the unsung heroes of America, the caregivers.

And I have huge shoes to fill in the HDSA Person of the Year tradition, which stretches back more than ten years.

Here’s a list of past awardees, in reverse chronological order: 2010, Katie Moser; 2009, Kris O’Brien; 2008, Bob Leck; 2007, Frank Hiscock; 2006, Gary Nash; 2005, Bruce Veneklase; 2004, Bryan Medrano; 2003, Karen Milek; 2002, Gary Elliott; 2001, Phil Hardt; 2000, Marc Church.

A new departure

For me, the Person of the Year Award is not an endpoint, but a new jumping off point.

As Don Barr noted in making the presentation, I long worked behind the scenes for the HD cause. In 2010 and 2011, however, I began exiting the “HD closet” by giving several speeches, going on the radio, and posting videos of myself on the web.

I hope to use the award’s prestige to build even greater awareness about HD and to encourage the research community to redouble its efforts in the search for treatments and a cure.

I especially hope that I can use this award to combat the stigma surrounding HD and other neurological diseases.

Time for leadership

I’ve reached a stage in the cause, and in my life as a gene-positive person, when I must exercise leadership.

I must get back in the HD trenches to continue my fight as before. I cannot shy away from new challenges such as the need to help prepare the HD community for potential clinical trials for the possible drugs now in development in labs. (On July 30, I’ll be speaking on this topic at an HDSA symposium in Seattle.)

Convention participants at the closing ceremony (photo by Ashley Miller)

Leadership takes place on many levels and in many venues of life: family, work, community, religious organization, advocacy, and politics.

Everybody can lead in his or her own unique way. All of us in the HD community must play our part to strengthen our movement.

I’ll be with you, shoulder-to-shoulder, as we work for better care and seek the cure.