‘Concussion’: advocating for the truth about brain diseases

In this era of growing concern over sports injuries, increased prevalence of neurological diseases, and pioneering brain research, the just-released movie Concussion hits home.

With Will Smith starring as the Nigerian-born Dr. Bennet Omalu, a forensic pathologist in the Allegheny County, PA, coroner’s office who was the first to identify a debilitating brain disease in deceased former National Football League (NFL) players, Concussion reveals how powerful political and financial interests prioritize profit over health, trying to bend or even snuff out inconvenient scientific knowledge.

Concussion also shows how scientists and physicians must sometimes go beyond the lab – even risking their jobs – to advocate for the truth.

As a Huntington’s disease advocate also keenly interested in the condition studied by Dr. Omalu, chronic traumatic encephalopathy (CTE), I applaud how Concussion helps raise awareness about brain health.

Like HD-affected individuals, people with CTE can suffer from symptoms such as depression, wild mood swings, forgetfulness, irrationality, insomnia, dementia, and suicidal behavior.

Dr. Omalu’s fight to get out the word reminds me of the long struggle against ignorance, stigma, and denial faced by families confronting HD and other rare and neurological conditions.

‘Trauma chokes the brain’

I watched Concussion on December 27. It dramatically portrays Dr. Omalu’s discovery of CTE in the brain of Mike Webster after the former Pittsburgh Steeler star lineman died in 2002 at the 50, having struggled with behavioral issues, depression, and other cognitive difficulties.

At the end of his life, estranged from his family, Webster lived in a pickup truck. Suffering from severe insomnia, he would shock himself with a Taser gun in order to fall asleep.

Using data from the Webster autopsy, Dr. Omalu and other researchers published an article in the scientific journal Neurosurgery suggesting that the impact of Webster’s football career caused CTE.

Dr. Omalu then found CTE in two other dead players.

“Repetitive head trauma chokes the brain,” Dr. Omalu declares in Concussion.

Ignoring the evidence

“You’re going to war with a corporation that owns a day of the week,” warns Dr. Omalu’s boss, coroner Dr. Cyril Wecht, portrayed by Albert Brooks, in reference to the immense popularity of the NFL.

Betraying both ignorance and arrogance, the NFL tried to force Omalu to retract his research, something a scientific journal would do only in the case of plagiarism or falsification of data. Concussion depicts that ill-fated attempt and Omalu’s resultant indignation.

Unable to stop Omalu, the NFL, led by Commissioner Roger Goodell, then turned on its effective public relations machine.

As shown in the film, it also ignored Dr. Omalu, refusing to allow him to even enter the room at a league meeting held to discuss his findings. They were instead presented by Dr. Julian Bailes, a former Steelers team physician – played by Alec Baldwin – who had become convinced that football endangered players.

As Concussion depicts, Dr. Omalu and his wife were forced out of Pittsburgh. He took a job as the chief medical examiner in San Joaquin County, CA, but continued to press the issue of CTE.

You can watch the Concussion trailer in the video below.

Mounting statistics

Concussion, for all its painful drama, actually takes a relatively mild approach For example, it doesn’t show all of the toll football took on Webster’s body and mind.

Complementing Concussion, the award-winning Frontline documentary League of Denial: The NFL’s Concussion Crisis, shows photographs from the Webster autopsy and delves more deeply into the science and politics of CTE. It originally aired in 2013 and replayed this month in anticipation of Concussion.

Two League of Denial collaborators, ESPN journalists Mark Fainaru-Wada and Steve Fainaru, have described the issues of CTE and football head trauma as a “public health crisis.” 

As noted in League of Denial and other media reports, NFL doctors and officials have consistently tried to downplay the CTE evidence. Among their claims: the number of dead players examined was too small to qualify as scientific evidence, and some players endangered themselves with issues such as steroid abuse.

“You can’t go against the NFL,” says the real Dr. Omalu in League of Denial. “They’ll squash you.”

However, as Frontline revealed in an online report in September and in this month’s broadcast of its documentary, the statistics are now overwhelming: 87 of 91 NFL deceased players tested positive for CTE. That’s a rate of almost 96 percent. With semi-professional, college, and high school players included, the figure is 79 percent.

A young star retires

The League of Denial update highlighted the case of Chris Borland, a highly aggressive tackler for the San Francisco 49ers.

“I knew of CTE,” Borland said in an interview for the program. “I didn’t know what the acronym stood for. I started with Google searches. I started looking at things: what does this term mean? Where is the research done?”

Borland understands that as a player he was prone to both receiving and inflicting trauma-producing hits. “You understand on a certain level what you’re doing,” he said, “but you don’t know the science behind it.”

In March 2015 Borland spoke to Robert Stern, Ph.D., of the Boston University CTE Center.

The documentary update cuts to an interview with Stern explaining that knocking heads in pro football is the “equivalent of driving a car at 35 MPH into a brick wall, a 1,000 to 1,500 times per year.”

After that call, Borland immediately retired from football.

“The idea that just the basis of the game, repetitive hits, could bring on a cascade of issues later in life, it changed the game for me,” he explained.

Is football safe?

Borland’s decision shocked the sports world.

Goodell immediately began damage control.

“I think our game has never been more exciting,” he said in a TV interview replayed by Frontline. “It’s never been more competitive. And I don’t think it’s ever been safer.”

“It’s dishonest, and I don’t think it’s responsible, to say that the game is safer,” Borland countered in the Frontline report. “I think that’s just not true, and the players themselves on the field know. I mean, they’d scoff at that. That’s not accurate.”

Borland recalled that the NFL’s own actuaries estimated that 30 percent of the league’s veterans would develop brain damage.

“I really don’t watch football anymore,” he said.

Concussion safety advocate Chris Nowinski, a former Harvard University football player and professional wrestler, said of Borland’s retirement: “It really made me wonder: if every NFL player had the access to the information he has, would they make the same choice?”

You can watch a Frontline report on Borland in the video below.

Continued risks

A steady flow of other reports in 2015 further highlighted the risks of football.

In August, a research study underscored the growing concerns about the impact of youth football.

In November, lawyers for the thousands of former NFL players and families who were awarded a $1 billion payout from the league for cognitive difficulties from concussion-related injuries returned to court to request an appeal so that CTE can be covered in the settlement. A decision on the appeal is expected in early 2016.

Also in November, the family of Pro Football Hall of Famer Frank Gifford, who died in August, revealed that he suffered from CTE and had shown signs of cognitive debilitation.

That month, continued weaknesses in the NFL’s concussion policies became evident as several players suffered conditions but continued to play because they were diagnosed only after their games.

Refusing to back down

Contrary to Concussion’s and Dr. Omalu’s assertions that he discovered CTE, medical researchers have been investigating the disease since at least the 1940s.

At that time, they focused on the risks of boxing. It’s no surprise that doctors and researchers have now found the disease in football players.

The themes of Concussion are deeply familiar to neurological disease communities. In the Huntington’s community in particular, affected families, advocates, researchers, and drug developers witness both the majesty and delicateness of the brain on a daily basis. We seek badly needed treatments for an incurable disorder that disables people physically and cognitively, turning them into a mere shadow of themselves.

Although ignorance and denial might still lead some to view HD as some personality quirk – just as deniers of football trauma dismiss the link between head trauma and behavioral problems – the informed members of the HD community know that this medical condition can be explained by science.

Despite the campaign against him, Dr. Omalu refused to back down. He drove home how dangerous football can be. The film reminded me of my realization years ago that I could no longer watch football with a clear conscience. Now I rarely watch it at all.

Those affected by HD, Alzheimer’s, Parkinson’s, Lou Gehrig’s, traumatic brain injury, and the myriad of other neurological and rare diseases should also not back away from their commitment to advocacy. Dr. Omalu’s example gives us courage to keep fighting for a clearer understanding of these conditions, better care for those who suffer from them, and ultimately the development of effective treatments.

Click on the links below to read my previous reports about the concussion crisis.

"It's playoff time - and a reminder that brain health comes first"

"Junior Seau, Super Sunday, and our most important national resource"

"Finding America's passion: the NFL and Huntington's disease"

‘Twas the morning after Christmas – and Huntington’s disease hit us like a ton of bricks

I dedicate this article to the repose of the brave souls who have lost the fight against Huntington’s disease.

Twenty years ago this holiday season, my wife Regina and I received news that changed our lives forever: my mother Carol Serbin had been diagnosed with Huntington’s disease, and I had a 50-50 chance of having inherited the genetic defect that caused the deadly disorder.

It happened the morning after Christmas 1995.

As I took stock of that year and looked forward to 1996, I felt calm and accomplished and, despite my habitual caution, even swaggered a bit. I was savoring that extra-special, carefree holiday feeling of the college professor: finals were over, grades were in, and I had a month off.

I felt immensely privileged. In addition to winter and summer breaks devoted to reading and relaxation, my position afforded me annual trips to pursue historical research in the country that had become my second home: Brazil. I felt confident as I neared the half-way mark to tenure, which would provide me job security.

In five days, on December 31, I would turn 36. Regina, who was 29, and I had purchased a condo near the university. It was just a few minutes’ drive from the beach in San Diego, a city with spectacular scenery and perhaps the world’s best climate.

My achievements gave my parents great pride and vicarious fulfillment. My father Paul had moved our family from Cleveland to Anaheim in June 1966, but, two weeks later, missing home and regretful that we kids would grow up far from our doting grandparents, packed up everything and moved us back. Regina and I now could live the California dream he had pined for. She and I talked of starting a family and saving for a vacation home in Rio de Janeiro, where she grew up.

At around midday, everything suddenly changed.  In a phone call with my sister in Cleveland, I received the greatest shock of my life: my mother had HD.

Paul and Carol Serbin around the time of her diagnosis with Huntington's disease (above, family photo) and a decade later as the disease ravaged her mind and body (below, photo by Gene Veritas, aka Kenneth P. Serbin)

We had never heard of Huntington’s disease. According to my mother’s doctors, the disease was untreatable, inexorably destroying her brain. It was causing her to shake uncontrollably – and to lose her mind.

Learning that I had a 50-50 chance of carrying the bad gene instantly put all of our hopes and dreams on hold.

Would we be able to start a family? Could we still buy that condo in Rio? In bed one night shortly thereafter, as I became gripped with fear, Regina held me tightly.

Kenneth and Regina Serbin after his dissertation defense, University of California, San Diego, 1992 (family photo)

Still symptom-free

Each year since, Christmas has brought a sorrowful reminder of my mother’s diagnosis – and of the risk I face. After much personal reflection and discussion with Regina, I got tested for HD in 1999, and unfortunately learned I was a carrier of the defective gene.

Through more than 200 articles in this blog since 2005, I have told the story of my family’s battle, chronicled the scientific movement to defeat HD, and explored the challenges of individuals, families, and society coping with this vexing, tragic disease.

As the 20th anniversary of our initiation into HD approaches, I recognize how fortunate I am to have remained free of the classic symptoms. This month I turn 56, an age when my mother faced the triad of HD problems: chorea (uncontrollable movements), cognitive difficulties, and emotional and behavioral disorders.

As I watched her decline and ultimately die of HD in 2006, after nearly two decades of suffering, I never imagined that I would reach this stage symptom-free. At my recent, annual visit to my neurologist, she found no signs of the disease.

I have much to be thankful for. I savor every moment like a sip of fine wine.

Regina, an educator, just obtained her administrative certificate, which qualifies her to shift from teaching to a job as principal. Our beloved daughter Bianca, who tested negative in the womb, will not develop juvenile Huntington’s. She’s a hard-working high school student, choral singer, and field hockey player.

Still able to pursue my professional passions, I am writing a book on ex-revolutionaries in power in Brazil and advocating with the rest of the HD community for better care and the discovery of effective treatments.

The Serbin Family 2015 Holiday card (family photos)

A lonely holiday

However, I know that I am not in the clear. Because I carry the bad gene, I will develop HD.

As an advocate, each day I share in the suffering of other families hit with Huntington’s.

This Christmas season, as I celebrate my family’s accomplishments, it’s lonely without my parents.

Because of HD, my mother could never really hold baby Bianca. HD took Carol’s life when she was just 68, robbing her of the opportunity to watch Bianca grow into a young woman.

I can’t share with my mom the success and many happy moments that she desired for me.

I also miss my father, the “HD warrior” who cared for Carol daily for more than a decade as her symptoms worsened and died with a broken heart three years after her death, in 2009.

Awaiting the gift of a cure

In 1995 we were so young, full of plans and hopes!

Huntington’s disease took away our innocence. In those first months after learning of my mother’s diagnosis, I began for the first time to comprehend mortality and the preciousness of time.

Because of HD, life became something very different from what I imagined it might be.

As I look back on the past 20 years, however, I recognize that for many, with or without HD, a smooth path cannot be predicted. And I recognize that life has brought me many good things.

Unlike my mother, who had no inkling that HD was ravaging her brain, I have had the chance to build a strategy to avoid onset and plan for the many social implications of the disease.

While my mother developed HD before the gene was even discovered in 1993, I live at a time when historic clinical trials might turn HD into a disease that can be managed like diabetes and other conditions.

This Christmas, as I commemorate the birth of Christ, I am thankful that my parents gave me the gift of life.

I look forward to a future holiday season when Huntington’s disease families can rejoice in a cure.

Merry Christmas and Happy Holidays!

Gene Veritas at the San Diego shore (family photo)

How to make law enforcement a friend – not a foe – of people with Huntington’s disease (and other disabilities)

Encounters with misinformed, sometimes insensitive police are one of the most vexing and tragic problems faced by people disabled by Huntington’s disease. So HD advocates and organizations are proactively trying to help law enforcement officers understand symptoms of the disorder and properly handle individuals in distress.

“We want them to be a friend, not a foe,” Doug Schulte, a long-time caregiver to his HD-afflicted wife Dorlue, said of the relationship between HD-affected people and police officers.

Doug, a retired fire captain with the San Diego Fire-Rescue Department, has joined HD advocates in the area and around the country in raising awareness about the disease. Its many behavioral disorders have often been misinterpreted as drunkenness, drug usage, or intentional hostility. People with HD often have an unsteady gait, involuntary movements, slurred speech, aggressiveness, and other difficulties that hamper social interaction. But those are warning signs for police untrained for such interactions.

An informal survey, which I conducted among HD families on Facebook recently, revealed that police misunderstanding and harsh treatment of affected individuals continue, but also that some officers respond with respect. (Click here and here to read about two previous controversial cases, in West Virginia and Pennsylvania.)

The survey also showed that some HD families are taking the initiative to contact the local police to educate them about the disease and their loved ones.

At the same time, thanks to both disease advocates and changing perceptions of police officers’ responsibilities, some law enforcement agencies have established programs to increase officers’ sensitivity when encountering or responding to calls involving the cognitively disabled and the mentally ill.

On October 3, California Governor Jerry Brown signed into law a bill mandating that police officers receive more in-depth training for helping citizens with mental illness or developmental disabilities, or who are under the influence of certain substances.

‘Take Me Home’

Doug recently registered Dorlue in the “Take Me Home” Program of the San Diego County Sheriff’s Department. Under the program, people with Huntington’s, Alzheimer’s disease, autism, and other cognitive disabilities or their loved ones can register their information online. Registrants can upload a photo of the disabled individual and provide a description of the person and symptoms that officers should know about.

Dorlue Schulte (family photo)

Lt. Mike Knobbe, a 24-year veteran of the sheriff’s department and the coordinator of Take Me Home, said that the program aims for good relations between the police and the disabled.

“The whole goal of this program is to build that partnership and to build that understanding, to allow you to tell us what you want us to know about your individual with special needs,” said Lt. Knobbe in a December 2 interview at sheriff’s headquarters.

Lt. Knobbe runs Take Me Home as part of his work as head of the department’s search and rescue unit. He also represents the department at the ambitious Alzheimer’s Project established by the San Diego County Board of Supervisors to seek treatments and improved care for that disease. The region has some 60,000 people affected by Alzheimer’s, some of whom dangerously wander from home and need a program like Take Me Home, Lt. Knobbe said.

Advocates for the disabled and affected families might not trust the police, he said, if officers don’t understand the dynamics of a disorder and the difficult situations that can result.

A display table with items from and about the "Take Me Home" Program (photo by Gene Veritas)

“So this is our opportunity to say, ‘Hey, we want to understand,’” he said. “What do you want to tell us, so when we get a call referencing your loved one, or to your residence, it will automatically come to our deputy, and we can have that knowledge ahead of time.”

With more than 500 individuals registered in the sheriff’s department’s countywide database, Take Me Home allows the department and other local police agencies to send to patrolling officers’ computers a photo of the disabled individual, medical information, and an explanation of unusual symptoms or behaviors. So far, the department has not tracked results, but may do so in the future. It is actively promoting the program to other law enforcement agencies in San Diego County and with disability organizations.

As Lt. Knobbe explained, typically misunderstood HD symptoms such as aggressiveness can “absolutely” go into the database.

“That’s something we want to know,” he said. “We still have a duty and a responsibility as a law enforcement officer to respond, yet it gives us a chance to have some information as to why might this be occurring.”

To register, go to www.sdsheriff.net/tmh/. You can listen to Lt. Knobbe introduce the program to the HD community in the video below.

'Take Me Home': A Police Aid for Assisting the Disabled from Gene Veritas on Vimeo.

An online database

The San Diego Sheriff’s Department adopted Take Me Home in 2010 at the initiative of Brian Herritt, a former Palomar College officer with an autistic son who once wandered from the family car and encountered a policeman. The boy was unhurt, but the incident prompted Herritt to think about why officers should understand the behaviors resulting from autism, Lt. Knobbe said.

In advocating for the program in San Diego, Herritt studied the Take Me Home program of the Pensacola (Florida) Police Department. Other departments around the country have similar programs.

In San Diego, Take Me Home first relied on patient advocacy groups such as the local Alzheimer’s association to provide a list of individuals for the database.

This process proved cumbersome, lengthy, and inconvenient, and the program was falling into disuse, Lt. Knobbe said. In early 2014, Sheriff Bill Gore tasked him with revamping the program.

“You can now register online on your own,” Lt. Knobbe said of the most important change in the program. “If you’re a caregiver, and you want to register your loved one, you can access our website and the Take Me Home registry and you can actually do you own online registration via your Android device, your iPhone, your iPad, your home computer, attach your own photograph, give us the information you want us to know, and do it from the comfort of your home.”

People register voluntarily, but the information remains confidential, he explained.

A screenshot of the Take Me Home webpage, December 9, 2015

Encouraging participation

Lt. Knobbe credited Doug Schulte with introducing him to HD and getting the disorder listed in the registry.

Before the introduction of the online option, Take Me Home “wasn’t utilized,” said Jamie Jirik, the board secretary for the San Diego Chapter of the Huntington’s Disease Society of America (HDSA). “The information wasn’t being updated effectively.”

“We want this to stay around,” Doug said, adding that he and Jamie are encouraging all San Diego County HD families to participate. “We want this to be something that law enforcement is used to using for people not only with Huntington’s, but Alzheimer’s, autism, and other mental illnesses. People who are deaf, too. It’s equipped with photo recognition software.”

Take Me Home gives law enforcement a good option: contacting a family member instead of arresting an HD person, Doug continued. “It’s what law enforcement wants to do,” Doug said. “They don’t want to take someone down and detain them. It’s a big waste of time for them.”

“If we have a lot of individuals in the database, we’ll have more resources available to us from law enforcement and other first responders,” Jamie added.

“There’s no risk to it,” said Doug. “It’s all reward. There’s no way that putting the information in there is going to be a detriment.”

Jamie Jirik and Doug Schulte (photo by Gene Veritas)

A problem ‘easy to fix’

Using HDSA’s Law Enforcement Toolkit, Jamie and Doug have teamed up to raise awareness about HD among police agencies, paramedics, and other first responders in the San Diego region. They have made presentations at training sessions and other departmental-sponsored events.

Doug calls on his personal experiences as a caregiver to get across the message about HD.

“When you explain how it unfolds in a person’s life, it brings a new dimension of understanding,” he said.

Dorlue has not experienced difficulties with the police, but Doug recognizes that the potential exists, as it does for many HD-afflicted people. He’s also listened to the sufferings of other families.

“The problem of police detention of HD-affected individuals is an awareness issue that is easy to fix,” he said. “We want the resources that society puts in place to protect the HD community to work with us, not against us. My background in fire was to help solve people’s emergencies. Police want to be there helping us, not detaining us if it isn’t warranted. I understand, because I have worked beside law enforcement. They have an extremely difficult job – they just are not aware of HD.”

Teaching response teams about HD

Jamie, 28, watched the disease kill her father in her home state of Illinois when she was 12. “He suffered from a lot of the behavioral aspects of HD,” recalled Jamie, who has tested negative for HD. “We saw his personality change greatly as the disease progressed.”

Jamie’s father was “confrontational at times” with the police and arrested several times, but her mother “actually had a great relationship with law enforcement,” Jamie said. “They did a really good job because they didn’t beat him up and respected him as much as possible.”

In addition to promoting Take Me Home to the local HD community, Jamie and Doug have explained the disease to local police agencies’ Psychiatric Emergency Response Teams (PERT). Such teams act as a liaison between law enforcement and health resources.

“They have the training and experience to interact with individuals with psychological difficulties,” she said. Departments activate PERT when people become a threat to themselves or to others, cannot communicate, or cannot clothe or bathe themselves, Jamie explained. PERT gets a trained clinician inserted into a police situation.

Raising awareness about HD: Jamie Jirik (left), Dr. Mark Marvin, director of the San Diego County PERT, Lt. Debra Farrar of the San Diego Police Department, and Doug Schulte (personal photo)

Feeling safer

Jamie and Doug are promoting other ways of insuring the proper treatment of HD people, including the newly standardized Huntington’s Disease ID Bracelet sold by HDSA.

“It’s a tool for law enforcement,” Doug explained. “They can pop this open and get the specific information about the person’s medical situation. When a paramedic has an interaction, they need to see the medical history and medications. There’s a piece of paper in here where you can write all that.”

Other resources can be viewed at HDSA’s Law Enforcement Education webpage.

The HD advocacy organizations HDCare.org and WeHaveAFace.org have announced a cooperative effort to provide a new medical ID alert bracelet for HD people. (Click here to read more.)

“There’s not one way that’s going to work for everyone, but having all these [resources] available for HD families to utilize will allow people to feel safer and just communicate with first responders,” Jamie observed.

Jamie Jirik displays the Huntington's Disease ID Bracelet (photo by Gene Veritas).

With more Huntington’s disease clinical trials, volunteers need help with comparison shopping

After learning last month that some researchers believe the drug under study in the SIGNAL clinical trial might slow the progression of Huntington's disease, I was excited about the possibility of participating.

SIGNAL is open to asymptomatic carriers of the HD gene like me. I tested positive in 1999, and my mother succumbed to the disease in 2006.

This is a huge decision, so I have been weighing the risks and benefits with my wife and members of the HD community.

After posting an article about SIGNAL on November 1, I started to waver about whether I should take part in the trial of VX15/2503, a monoclonal antibody made by the small Rochester, NY-based biotech company Vaccinex.

I wondered: how safe is the drug? Why hadn’t I heard about SIGNAL before? With the trial based on just one recent paper about a test of the drug in transgenic HD mice, and with other trials typically based on more tests, I wanted to know more about the science behind it.

I contacted a number of people in the HD research community. Privately I received assurances about the safety of VX15/2503 and its potential for alleviating HD – but also recommendations against participation. One obvious major concern is that the compound is non-HD-specific, in contrast with the one currently under study in the historic Isis Pharmaceuticals, Inc., gene-silencing trial.

In a future article, I hope to interview Vaccinex scientists about why they think their compound can help HD patients and presymptomatic individuals like me.

Learning the background of clinical trials and deciding on participation can be challenging. In addition to consulting with physicians and clinical trial administrators, HD people and their families could benefit from better information about clinical trials. In this article I explore these issues and one (albeit partial) solution: the idea of a patient/caregiver advisory council to provide information and advice about HD trials.

No ranking system

Each year, more HD trials take place, each with unique drug mechanisms and participant selection criteria. Each volunteer must ask: which is best for me?

It’s possible that a good drug could be left out of the race because of the increase in the number of trials: the patient pool might be too small to furnish enough volunteers for every trial.

The Huntington’s Disease Society of America (HDSA), the leading patient organization in the U.S., recently launched an online search tool, HDTrialfinder. It’s a “clinical trial matching service” that provides information similar to that found on at Clinicaltrials.gov, but in a somewhat clearer format. It has HD-specific search tools and provides the opportunity to receive updates via email. It lists current HD trials.

However, it does not rank or recommend trials.

“HDSA does not endorse any interventional HD drug studies, but we do encourage individuals to talk with their physicians about the opportunities to participate in all types of clinical research that can help lead to treatments for HD,” said George Yohrling, Ph.D., HDSA’s Director of Medical & Scientific Affairs. “Additionally, we strongly recommend that patients do their own due diligence to better understand exactly what their involvement in a study would mean to them and their families.”

HDBuzz.net, podcasts such as Help4HD’s “The HD View,” and other online sources also provide easy-to-understand information about HD research and HD clinical trials, but don’t offer recommendations or rankings.

Cautions about new experimental drugs

To get a broader understanding of clinical trial planning and HD families’ part in the process, I conducted a 90-minute phone interview with LaVonne Goodman, M.D., on November 16. The founder of Huntington’s Disease Drug Works and physician to many HD patients, Dr. Goodman has provided the HD community with a constructively critical view of the process and its many related issues.

Dr. Goodman began with some general observations about clinical trials and volunteering for them.

“In general, I have problems with giving an experimental drug with unknown risks to individuals who have minor or no symptoms of HD,” she said. “Though it may sound maternalistic, it is my bias that, if you have a clinical trial for this group of people who aren’t very sick at all clinically, then a new experimental drug should not be tried in them first. The risks are unknown, and that’s different than giving the drug to a symptomatic individual who is already sick, because they have more at stake and are willing to take a greater risk.”

LaVonne Goodman, M.D. (photo by Gene Veritas)

Two key questions about trials

“We trust our beloved doctors,” Dr. Goodman continued. “When they do a clinical trial, we may assume incorrectly that they know all the background. But they aren’t given all the (scientific) background.”

Dr. Goodman referred to an article she posted in March about the drug laquinimod, currently under study in a clinical trial sponsored by the Israel-based pharmaceutical firm Teva. (Laquinimod has already undergone testing for multiple sclerosis and shown various benefits for the brain, making it a good compound, with fairly well known risks, for an HD trial.)

In the article, she noted that prominent cancer researcher and author Siddhartha Mukherjee, M.D., Ph.D., has suggested that patients ask two “vital” questions about clinical trials: “Why is the trial being done?[...] What were the data that led to the clinical trial in the first place?”

“This is particularly important as our clinical trials become more complicated, and several are recruiting concurrently,” Dr. Goodman wrote. “This information should be provided to the community in a format that is easily assessable and in language that potential participants can understand for every new trial.”

She warned: “Can sponsors or investigators expect participants to sign up when the rationale for testing the drug isn’t more available?”

A clinical trial rating scale

Dr. Goodman proposed that a rating scale – done with feedback from HD families – could help patients select trials and assure that the most important trials secure enough volunteers.

“I think there are some broad recommendations that could be done with a rating scale,” she said, adding that it could be created with an “independent” group made of patient advocates and representatives from the Huntington Study Group (administrator of SIGNAL and other HD trials), HDSA, and other organizations.

“Patients’ families are not part of the discussion when it comes to HD clinical trials,” Dr. Goodman said. “There are groups like cystic fibrosis and breast cancer where there is precedent for this. I think it would be helpful to our particularly vulnerable community.”

Dr. Goodman believes the establishment of such a council may be a “moral obligation” to HD families.

Indeed, behind the scenes, some HD researchers, advocates, and others in the community have begun discussing the formation of a patient/caregiver advisory council to furnish input to HSG and other groups involved in clinical trials regarding clinical trial design and selection. Such an initiative could include a rating scale.

However, a rating scale must be built in a positive and efficient way that would “not push drug company sponsors away,” Dr. Goodman added.

Dr. Goodman pointed out that drug companies may trial a new drug in HD that was originally developed for another disease.  This is true for drugs in the LEGATO (laquinimod), Amaryllis, and SIGNAL trials.  It remains to be seen whether this is a good approach for HD, she said.

Furthermore, HDSA Centers of Excellence and other HD clinics need greater funding to increase access to care and therefore the number of people potentially interested in clinical trials, she said. At best, just a quarter of individuals with HD are seen by research center neurologists. High costs prevent more HD people from seeing these neurologists, a situation unlikely if the U.S. had a national healthcare system, she noted.

The FDA and momentum for a council

Momentum for patient/caregiver advisory councils for HD and other diseases is building in the wake of the recent and historic set of “patient-focused drug development” hearings held by the U.S. Food and Drug Administration (FDA), including the September 22 meeting on Huntington’s (click here to read more).

In the words of one informed observer, the FDA is “not just doing this for show.” The agency will likely start requiring drug companies to include patients’ perspective in clinical trial design.

Despite its duty to safeguard the public, the FDA itself also does not rate or recommend drugs, although it does carefully examine the outcome of a clinical trial before approving a drug for the market.

Likewise, the FDA is concerned primarily about toxicity when allowing a company to go forward with a Phase I or II clinical trial (when safety is the primary concern). For instance, the agency does not look at whether a drug for HD actually gets into the brain, Dr. Goodman said.

“Their primary objective is to not let something that appears too unsafe get into a clinical trial,” she observed. “They don’t discourage drug companies from testing drugs. On the contrary, they want drugs to be tested.”

Comparing trials

We can imagine the idea of an HD clinical trial rating scale overseen by a patient/caregiver advisory council as giving us the same power people have when doing comparison shopping at sites such as Consumer Reports or CNET.com.

We need information that is succinct but relevant, scientifically rigorous but understandable.

We also need the capability to compare the different trials. For those council members who ask, the trial sponsors could furnish full scientific data.

In effect, the HD community has often acted as its own clinical trial guide.

The decision to participate in a clinical trial is ultimately a personal one best made in consultation with a physician.

Having the additional assistance of a rating scale can facilitate the process and potentially speed the search for effective treatments.