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.

Might I finally take part in a Huntington’s disease clinical trial? An update on the latest research

In the 20 years of my family’s fight against Huntington’s disease – we discovered my mom had HD the day after Christmas of 1995 – I felt this past week for the first time that I might have a chance to avoid its inevitable, mind-destroying symptoms.

On October 26, I learned about a new clinical trial aimed at rescuing brain cells from the degeneration caused by Huntington’s.

Called “SIGNAL” (alternatively, VX15/2503 Treatment for Huntington’s Disease), the trial will include asymptomatic carriers of the HD gene like me who are close to predicted age of onset. Made by the Rochester, NY-based biotech company Vaccinex, VX15/2503 is a monoclonal antibody, a type of molecule essential in molecular biological research.

Monoclonal antibodies are used in various forms by companies such as Vaccinex to treat an increasing number of conditions such as cancer. Vaccinex is also enrolling volunteers in a VX15/2503 trial for multiple sclerosis. Vaccinex believes the very same compound might help alleviate a host of other neurodegenerative diseases.

“The thought is that if we could give this drug early enough we can actually slow the progression of Huntington’s, and that’s really exciting,” said Jody Corey-Bloom, M.D., Ph.D., the director of the Huntington’s Disease Society of America Center of Excellence for Family Services and Research at the University of California, San Diego. She spoke to more than 50 people attending her annual HD research update presentation at the San Diego support group on October 26.

Jody Corey-Bloom, M.D., Ph.D. (photo by Gene Veritas)

Aiming to halt progression, delay onset

Dr. Corey-Bloom, who's provided research updates to the support group since 2005, kicked off this year’s presentation with a review of the historic news on October 19 that HD patients in England had received the first dosing of an Isis Pharmaceuticals drug, ISIS-HTT_Rx, aimed at stopping the disease at its genetic roots. ISIS-HTT_Rx is an antisense oligonucleotide (ASO), an artificial strand of DNA (click here to read more).

SIGNAL, initiated in June, is the “biggest” news on the HD clinical trial field scene since the development of ASOs for use in HD, Dr. Corey-Bloom said. SIGNAL marks the first ever use of a monoclonal antibody in an HD clinical trial, she noted.

“So we’re not just treating motor signs,” she said of SIGNAL. “We’re actually trying to slow the progression. And the reason is that this also belongs to a class of drugs that blocks inflammation in the brain in animal models. And so the hope is that we could either delay the onset or slow the progression.”

VX15/2503 would help HD patients by reducing inflammation in the brain. Scientists primarily from the lab of world-renowned HD expert Michael Hayden, M.D., Ph.D., in collaboration with Vaccinex researchers, published a breakthrough study in April in the journal Neurobiology of Disease demonstrating how the use of a monoclonal antibody restored health in HD mice.

Vaccinex is one of a growing number of biotech and pharmaceutical companies that have delved into the search for HD treatments as research has greatly expanded.

As the scientist-written HD research site HDBuzz noted last February, other investigators are seeking ways to use other antibodies in the quest for treatments.

You can watch Dr. Corey-Bloom’s research update, which includes details on numerous other hopeful projects, in the video below.

Update on Huntington's Disease Research 2015: A Presentation by Dr. Jody Corey-Bloom from Gene Veritas on Vimeo.

Including presymptomatic volunteers

HD clinical trials have rarely included presymptomatic people because of ethical concerns and the inability of science to measure a meaningful effect.

However, SIGNAL includes presymptomatic individuals for several reasons, in part because ways of detecting and interpreting the symptoms have become ever more effective, Dr. Corey-Bloom explained.

“You have to be gene-positive, but you don’t even have to have a diagnosis, because they believe that the drug itself is not going to hurt you,” she said, adding that the current stage of the SIGNAL trial (Phase II) is primarily to confirm its safety. (Later a Phase III would test the drug’s efficacy.)

SIGNAL will evaluate changes in participants’ brains using “very unique, very high-level, high-quality imaging,” she said. “They’re doing very special PET studies, and they’re also doing very special MRI studies, DTI, diffusion tensor imaging, and so just a lot of very, very special techniques that are being orchestrated by the Massachusetts General Hospital and [researcher] Diana Rosas.”

Measuring the effects

One attendee asked specifically how a presymptomatic individual would know whether onset had been delayed.

“I think the imaging data is going to be really compelling,” Dr. Corey-Bloom said, noting that previous research has abundantly demonstrated changes in the brain a decade or more before onset, as well as precise measurements in those changes over time. “I think they’re going to be able to tell that it isn’t declining the way people who aren’t being treated is declining.[…] If you’re in the early stages and stay there, that would be pretty impressive, too.”

Involving 36 volunteers at 13 sites across the country, SIGNAL will deliver VX15/2503 intravenously once per month over twelve months in one group and over 18 months in a second group. Dr. Corey-Bloom, whose Center of Excellence enrolled the first patient in SIGNA, said that each infusion would last about an hour. (Click here for the official details of the trial, which will be administered by the Huntington Study Group [HSG]). The HSG just completed its 2015 meeting, held October 21-24 in Tampa, FL.

Further information about SIGNAL in the San Diego region is available at 858-246-1254.

Confidence, but….

I will call that number very soon to learn more about my eligibility and the risks involved.

I tested positive for HD in 1999, and my mother died of the disorder in 2006 at the age of 68 after a two-decade battle. I’m almost 56, a stage where my mother already had involuntary movements and suffered from cognitive loss.

After attending the HD support group and seeing symptomatic friends, I’m always worried about onset.

Dr. Corey-Bloom’s recap of the good news about the long-awaited Isis clinical trial left  me with a feeling of confidence that someday we will defeat HD – but perhaps not in time to stop my onset. The Isis trial does not include presymptomatic individuals, and, even if successful, it could take five, ten, perhaps even 20 years for the approach to have a significant impact on the disease.

Wishing for a ‘normal’ life

However, after hearing about SIGNAL for the first time, a flood of new emotions began to pour over me.

I immediately felt hope for my friend Sharon Shaffer, my HD sister, and other HD-affected individuals in the audience.

Sharon Shaffer and mother Fran Walker (photo by Gene Veritas)

I awoke at 3:45 the next morning full of energy. Unable to sleep again, I worked on processing the video of Dr. Corey-Bloom’s talk.

“My 20th year attending support group – what a difference!” I wrote in my notes. “Treatments and trials, people asking questions about real scenarios, not just long-off hypotheses. PLUS: I learned of a trial that I can maybe take part in and see symptoms prevented. What if my career can be ‘normal’ and my life ‘normal’?”

I’ve hardly ever had such positive thoughts, although I recognize that I am extremely lucky to have remained asymptomatic this long.

Risks vs. benefits

My wife, who has seen so many of her own plans dashed because of HD, was pleased to hear about SIGNAL.

She hopes every day for a treatment to save me, as well as others, from the devastation she witnessed in my mother.

As I gather more information in the coming weeks, and if I am eligible to participate in SIGNAL, I will weigh risks and benefits with her, my physicians, and members of the HD community.

My immediate concerns: could VX15/2503 cause harmful side effects or even trigger HD? Would participation somehow prevent me from taking part in other trials in the future?

‘Unimaginable scenarios’

Regardless of my participation, I will follow this project with keen interest – as surely will the rest of the HD community.

As with the Isis compound, there is no guarantee VX15/2503 will work.

However, it is yet another shot on goal in the search for effective treatments. The more shots, the better the chance of success.

The HD community can now envision scenarios unimaginable 20 years ago. That's significant progress.

Huntington’s disease patients get first dosing in historic Isis Pharmaceuticals’ gene-silencing drug trial

Huntington’s disease patients in England have received the first dosing of an Isis Pharmaceuticals drug, ISIS-HTT_Rx, aimed at stopping the disease at its genetic roots.

The patients displayed no immediate complications. This so far confirms expectations that the gene-silencing drug would be safe to use, although clinical trial administrators will continue to make critical observations in the coming months. Other dosings will occur. The drug’s efficacy will not be analyzed until later stages of the trial.

An announcement came October 19 that a small number of Phase I clinical trial participants at University College London (UCL), the lead site for study, had received injections via spinal cord of the Isis compound, according to a UCL news release.

“It's the beginning of quite an important journey in Huntington's disease,” Sarah Tabrizi, Ph.D., the director of UCL’s Huntington's Disease Centre and the global chief clinical investigator for the trial, told the BBC. “It is clearly very early but this is a step forward.

“The preclinical work shows that if you lower production of the mutant protein then animals recover a large amount of motor function. Huntington's is a really terrible disease that blights families. I know a mother whose husband and three children were affected. This would have a massive impact [if it works].”

Sarah Tabrizi, Ph.D. (photo from University College London website)

Slowing or preventing the disease

The news comes just three months after Isis announced the official start of the trial, the first time HD patients are receiving a substance aimed to attack the genetic causes of the disease. Isis has partnered with the Swiss-based pharmaceutical giant Roche to facilitate the clinical trial and, if it’s successful, the marketing of the drug.

Isis officials were unavailable for comment on October 19 but the main scientist spearheading the development of ISIS-HTT_Rx, which signifies a medication for HD, commented in the UCL release.

“We designed ISIS-HTT_Rx to target the huntingtin gene and reduce the production of huntingtin protein, which is the known cause of the disease,” stated Frank Bennett, Ph.D., the Isis senior vice president for research. “This approach has the potential to prevent or slow the progression of this disease. If this first-in-human trial proves the drug is safe, we look forward to continuing our successful partnership with Roche to bring the drug to market.”

Dr. Bennett has previously described the drug, scientifically known as an antisense oligonucleotide (oligo), as a “laser-guided missile” targeting a “specific messenger RNA that causes a particular disease and kill it or take it out of the body so that you don’t produce that messenger RNA.”

Isis announced the details of the trial in August 2014 (click here to read more).

Frank Bennett, Ph.D., senior vice president for research at Isis Pharmaceuticals (photo by Dr. Ed Wild)

Safety and tolerability first

The Phase I trial involves patients at UCL and also at various sites in Canada and Germany. Across all sites, a total of about 36 patients will take part. Phase I trials focus primarily on the safety and tolerability of a drug. The study will also help determine the frequency and size of dosages for eventual Phase II and Phase III trials, which measure efficacy.

All of the volunteers have early stage HD. Because of the use of spinal taps to administer the drug and the highly experimental nature of the oligos, no non-HD-affected individuals are taking part as controls.

No announcements have yet been made about dosing of patients in Canada and Germany.

According to the UCL release, the ISIS-HTT_Rx is taking place in the new Leonard Wolfson Experimental Neurology Centre, a custom-built facility designed to accelerate innovative treatments for neurodegenerative diseases.

“The administration of the first doses of ISIS-HTT_Rx marks the Centre's first use as a phase 1 'first into human' trial facility, as well as the first time that an experimental drug has been given by spinal injection in the 156-year history of the National Hospital for Neurology and Neurosurgery, part of University College London Hospitals (UCLH) NHS Foundation Trust,” the release stated.

What’s next?

“The first volunteers have been treated without any immediate complications,” the scientist-written HD research site HDBuzz observed. “The next year or so will be a period of intense study of these trial volunteers to make sure that they don’t have unexpected complications from the treatment. They’ll also be examined for a range of measures of whether or not the drug is working, which will provide critical information for planning future HD gene silencing studies.”

Depending on the pace of recruitment, Phase I most likely will end in 2017. If Phase I is successful, Phase II could follow no sooner than nine months later. All three phases of a clinical trial program typically take at least five years.

Historically, only ten percent of clinical trials ever result in a marketable drug.

Regardless, the HD community has crossed a significant threshold. Science has yet to produce an effective treatment for HD, as well as for Alzheimer’s, Parkinson’s, and other neurological disorders. HD could be the first.

Hope is palpable.

As a carrier of the deadly HD gene who lost his mother to the disease in 2006 and has tracked the Isis project since 2007, I am thrilled that our fellow HD community members have successfully made the first step in this historic clinical trial. They deserve our enthusiastic applause for volunteering.

(Disclosure: I hold a symbolic amount of Isis shares.)