With the ‘worst’ FDA head out and Huntington’s disease advocates pressing for bipartisan reform, uniQure announces new plan to seek gene therapy approval

  

On June 17, uniQure announced a new plan to apply to the U.S. Food and Drug Administration (FDA) to seek approval of its gene therapy for Huntington’s disease  – a dramatic shift after the agency had last year blocked the drug despite results showing, for the first time, that HD progression could be slowed.

 

The announcement comes in the wake of the May 12 resignation of the head of the crisis-ridden FDA, which has clashed with uniQure.

 

In a press release, uniQure reported that, at a recent meeting with the FDA, the agency had accepted that the three-year analysis of the drug, AMT-130, which the company has presented as demonstrating efficacy against HD, can serve as the “primary basis” for a drug approval application.

 

uniQure aims to apply in the third quarter of this year. In alignment with the FDA, the company will also conduct a “confirmatory study” to further test the efficacy of AMT-130. According to early-stage clinical trial results reported by uniQure, AMT-130 had demonstrated a 75 percent slowing in HD over a three-year period – a historic achievement.

 

For the confirmatory study, uniQure will work with the FDA to determine how to evaluate a “concurrent control,” that is, a placebo or comparator to measure drug efficacy in those not receiving the drug. According to the press release, this study would not include a sham surgery as a placebo – a requirement introduced in March by the FDA but considered by many to be unethical because of the already harmful symptoms of HD.

 

According to the press release, the FDA has agreed that uniQure can, for a comparator, still use the patient information from the important Enroll-HD database of affected individuals – a major point of contention in the FDA’s surprise reversal of its promises regarding the study of AMT-130.

 

“Today's announcement reflects the outcome we have worked toward throughout our continued regulatory engagement with FDA, and we are deeply grateful for FDA’s genuine commitment to addressing the unmet need of Americans living with Huntington’s disease,” Matt Kapusta, uniQure CEO, stated in the release. “The FDA has agreed that our current clinical data can support a near-term BLA [biologics license application] submission and has committed to work expeditiously with us to align on the design of the required confirmatory study.”

 

‘A meaningful step forward’

 

The new understanding with the FDA represents a significant shift, because, after previously clashing with uniQure, the FDA recommended in March that the firm conduct a full-blown Phase III clinical trial, including the use of a sham surgery.

 

“Today’s announcement from uniQure represents an encouraging and meaningful step forward for the Huntington’s disease community,” Amy Gray, president and CEO of the Huntington’s Disease Society of America (HDSA), stated in a press release. “I applaud the leadership at the FDA for allowing uniQure to take this important step forward in the development of its investigational treatment for Huntington’s disease.

 

Gray added that “this progress did not happen in isolation.” Following “regulatory hurdles,” the HD community “united like never before.” HD advocates delivered to the FDA two petitions with more than 48,000 signatures in favor of AMT-130. According to Gray, more than 11,000 messages to Congress, participation in legislative meetings, and sharing of personal stories added to the impact.

 

“I am deeply grateful to the Members of Congress who stood with Huntington’s disease patients and families during this effort,” Gray said. “Their willingness to engage with the FDA, ask important questions, and advocate for a regulatory framework that reflects the realities of rare disease research helped ensure that the voices of our community were heard.”

A whirlwind of developments

 

The uniQure announcement about AMT-130 came in at the end of a whirlwind of recent developments. The HD community has regrouped in support of improved drug discovery policy at the crisis-ridden FDA.

 

On April 30, uniQure took the case for its drug to the United Kingdom’s Medicines and Healthcare products Regulatory Agency (MHRA) as a first step to seek approval in that country. The company plans to submit an application in the third quarter of 2026.

 

On May 12 FDA Commissioner Marty Makary, a Trump administration appointee, resigned after what STAT considered to be the “worst” leadership of the agency in 25 years because of “a fundamental lack of understanding of the nature of the role, of the functions of his agency, and of the needs of the employees who worked for him.” His departure prompted calls for rebuilding public trust in, and better leadership at, the FDA (click here and here to read more).

 

On June 1, the FDA announced that Acting Commissioner Kyle Diamantas would meet with rare disease group leaders to seek to steady operations and mend fences with disease groups. That meeting took place on June 3.

 

Jeff Allen, CEO of Friends of Cancer Research, described the encounter as a “breath of fresh air.”

 

The FDA did not invite HDSA and other HD advocacy organizations to join the meeting. The FDA declined to answer questions. As of publication time, a message left at the National Organization for Rare Disorders seeking comment had not been returned.

 

A key briefing on rare diseases

 

However, on June 2, HDSA CEO Gray moderated a panel of five rare disease community representatives at a bipartisan congressional townhall briefing in Washington, D.C., titled “The Pathway to Cures and Treatments for Rare Diseases.”

 

“Rare disease families need a clear and sustainable pathway to research, treatments, and care,” said Gray in an HDSA press release about the event, available on YouTube. “This briefing is an important opportunity to bring patient advocacy organizations, scientific leaders, policy experts, and lawmakers together to discuss how we can advance meaningful progress for families impacted by rare diseases.”

 

With more than 40 people in attendance, the meeting highlighted the suffering of people with rare diseases, the urgent need for effective treatments, and the need to improve the FDA’s procedures. It included comments from both a Democratic and a Republican member of the House of Representatives.

 

The Pathway to Cures and Treatments for Rare Diseases congressional townhall briefing at the Rayburn House Office Building, Washington, D.C., June 2. From left to right, Kathryn Bryant Knudon, The Speak Foundation; Emily Gantman, Ph.D., CHDI Foundation; Lauren Moore, Ph.D., National Ataxia Foundation; Monet Stanford, PharmD, Washington Analysis; Tamara Maiuri, Ph.D., HDSA; Amy Gray, HDSA; and Rep. Jake Auchincloss (screenshot by Gene Veritas, aka Kenneth P. Serbin)

 

Bringing ‘smart’ leadership to the FDA

 

Rep. Jake Auchincloss, a Democrat from the greater Boston area and a member of a family of physician-scientists, said that he was “passionate” about the issue of rare disease drug development. He is on the Subcommittee on Health of the Committee of Energy and Commerce.

 

The subcommittee oversees the FDA. Auchincloss’s focus includes clinical trial reform, which the panelists agreed was important for rare disease drug development.

 

“While the science has never been better in trying to unlock those answers, the politics has never been worse,” Auchincloss said at the briefing.

 

Auchincloss spoke of the need for change on three fronts involving science and research: to bring U.S. research spending back to its previously high levels; to bring “smart” leadership back to the FDA; and to require insurance companies to cover the many new rare disease therapies on the horizon.

 

Auchincloss added that the “most urgent issue now” is to stop the Trump administration’s “unprecedented” cutting of National Institutes of Health grants without the time-honored standard peer review.

 

‘Cut the red tape’

 

Rep. Morgan Griffith, a Republican who represents far western Virginia, chairs the Subcommittee on Health. He supports the cause of the ALS (amyotrophic lateral sclerosis) community and pediatric cancer. He spoke about how people with rare diseases in remote areas have difficulty accessing clinical trials in urban areas.

 

Griffith also spoke movingly of the two HD families he has gotten to know.

 

He agreed with Auchincloss’s approach regarding the FDA and clinical trial reform. The two speak regularly on these issues.

 

“We have to figure out a better way to do it,” Griffith said. “It needs to be bipartisan.”

 

Auchincloss is not seeking more money from the government but simply to “cut through the red tape” regarding drug development, Griffith said, adding that people with rare diseases should not be required to “jump through the same hoops” as those participating in clinical trials for less difficult conditions such as nausea.

 

‘We were finally heard’

 

On September 17 and 18, news about AMT-130 dominated bioscience headlines after the uniQure announcement – and provided a needed boost to the HD community.

 

“I’m literally crying right now,” Lauren Holder, a Help4HD International Advocate and, like me, an HD gene carrier, told STAT. “I’m so happy that I don’t even know how to put what I’m feeling into words.”

 

Holder added, “This is the best-case scenario for our community.”

 

“This happened because dedicated patient advocates refused to give up, because this community continued to show up, speak up, and fight, even when it felt like no one was listening,” she said. “Today, it feels like we were finally heard.”

For Huntington’s Disease Awareness Month, reflections on teaching about this devastating disorder at the University of San Diego

  

First proclaimed by President George H. W. Bush in 1991, Huntington’s Disease Awareness Month (May) encourages affected families to share their stories about this rare neurological disorder with the wider world.

 

For that reason, among others, I served on the board of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA) from 1998-2010. In this blog, begun in 2005, I have written articles commemorating HD Awareness Month.

 

A 2019 posting about HD Awareness Month featured a photo of me pointing to HDSA #LetsTalkAboutHD flyers posted on my office door at the University of San Diego (USD), where I teach history and research science and technology studies.

 

As a fulfillment of a long-term goal to advance both awareness-building and deepen my knowledge of HD science, in the spring semester of 2025 I inaugurated a new course, A History of the Brain: Examining Huntington’s Disease. Professors often say that the best way to learn a subject is to teach it. Student feedback is crucial in this process.

 

This month, in the third offering of the course, I distributed a flyer containing HD Awareness Month promotional material from HDSA and the Huntington’s Disease Foundation.

 

Each holding a flyer, three students – Ana-Lucia Moreno, Ava Puorro, and Mia Wilde – had a picture of me taken with them in the classroom and posted it on Wilde’s Instagram with the title “National Huntington’s Disease Awareness Month.”

 

“Best class ever with Dr. Serbin, who has Huntington’s disease and taught us so much about it in class!” they wrote on the posting.

 

They included the link to this blog. “Watch his blog to learn more about HD and how we can make all people feel included.”

 

 

From left to right, Mia Wilde, Gene Veritas (aka Kenneth P. Serbin), Ana-Lucia Moreno, and Ava Puorro in Wilde’s Instagram post about HD Awareness Month. The jacket I am wearing is much-appreciated swag from the Annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc., the biggest private funder of HD research (personal photo).

 

Keys to understanding the history of HD

 

A History of the Brain has great relevance to the present. At the outset, I acknowledge that I am not a neuroscientist but a historian, HD gene carrier, and advocate.

 

An introductory course that fulfills the history requirement in USD’s core curriculum, A History of the Brain teaches basic skills in how to interpret history. The students have a wide variety of majors and career interests, including premed, neuroscience, biotech, business, natural sciences, engineering, and the humanities. The course also counts towards a major or minor in history.

 

I lecture on the basic scientific understanding of the brain from antiquity to the present, based on the masterful book by Andrew P. Wickens, A History of the Brain: From Stone Age surgery to modern neuroscience. It helps provide an overview of humanity’s understanding of the brain in understandable terms.

 

To launch discussion about the disease, students do short writing assignments based on the course readings. They include neurologist Thomas Bird’s Can You Help Me? Inside the Turbulent World of Huntington Disease. As I stated in my review of the book, “With non-technical, limpid prose, Dr. Bird tells the full story of HD’s wide-ranging medical, socioeconomic, and legal implications through a series of poignant vignettes, based on hundreds of HD cases."

 

The students also read two classic works by prominent HD family member and historian Alice Wexler, Ph.D. In The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease, Dr. Wexler explains the deep stigma and misunderstanding about HD that developed in the nineteenth and twentieth centuries. In Mapping Fate: A Memoir of Family Risk and Genetic Research she chronicles the crucial work by her family and a myriad of scientists to discover the huntingtin gene in 1993.

 

Emotional debates and discussions

 

Many days in the course produce deeply emotional debates and discussions.

 

My students’ recognition of the need for social inclusion for all echoes the course’s deep exploration of the stigma and discrimination associated with HD, other neurological disorders, mental illness, and disabilities.

 

Those themes emerge in the books about HD and in the selection of articles from my blog included in the course readings. For its contributions in giving a voice to the HD community, last year my blog received the 11th Victor Gonzalez Santos Community Award, which supports local families in San Diego with HD. My articles, which include stories of my family’s struggles with HD, and my discussions with the students add a deeply personal element to HD and the cause to defeat it.

 

The course studies in details HD’s triad of devastating symptoms: involuntary movements, cognitive loss, and behavioral and psychiatric difficulties. We also delve into many other difficult challenges faced by the HD community, such as genetic testing, family planning, and bioethical issues like abortion and suicide. We also discuss the quest for treatments of this still incurable disorder.

 

Students see how I bared my heart in blog articles like the one about my mother’s final moments before dying from HD and the revelation that I carried the HD gene. As a result, I need to be prepared to talk in class about the most devastating aspects of the disease and the fears of experiencing them myself.

 

College classes provide an exercise in intellectual freedom and debate, with a professor being open to all views. In one class last year we intensely debated police misunderstanding and mishandling of HD-affected individuals, who are often seen as being under the influence of drugs or alcohol.

 

I introduced the students to something new for most of them: the Psychiatric Emergency Response Team, which has specialists trained to interact with and identify resources for those with behavioral health issues and who may pose a threat to themselves or others. The students concluded that this team was the appropriate alternative to calling the police in the case of HD or other disorder.

 

Invaluable insights

 

The course closes with an important religious perspective on the HD cause. We ponder the question, “how could God allow people to suffer from disease?” We examine Pope Francis’s historic audience with the HD community in 2017 and his declaration that HD should be “hidden no more!”

 

One of my projects at USD is to publish an annotated collection of about a dozen or some of my blog articles.

 

My interaction with the students and their thoughts on my blog and the HD cause will provide invaluable insights for that project.

 

A ‘very meaningful’ experience

 

The course has also underscored for me the fact that Huntington’s disease is still not a household word in the U.S. as compared to Alzheimer’s, Parkinson’s, ALS (amyotrophic lateral sclerosis), and other disorders. For most of the students, it is their first exposure to HD.

 

HD families still lack an effective therapy.

 

In a very poignant way, the course introduces young people to something we all share: mortality. Tragically, last year a vibrant and accomplished 42-year-old USD sociology professor, Greg Prieto, Ph.D., died of cancer – after offering his own reflections on facing death.

 

With A History of the Brain, I hope to have move us a bit further towards the greater awareness that the HD community still needs.

 

My students’ HD Awareness Month Instagram post is an example of the impact the course has had.

 

In an e-mail to me, Mia Wilde reported that the post had some 600 views and 100 likes, “a really great amount of engagement.”

 

“Another person reached out asking what Huntington’s disease was, so I gave them a brief overview about it being a hereditary disease and shared some of what we learned in class,” Wilde wrote.

 

Another person told Wilde that “it was such a thoughtful thing that we were doing because they had a friend who had Huntington’s disease before, which I thought was very meaningful to hear.”

‘Ready to fight the fight’: Huntington’s disease community delivers petitions to FDA seeking approval of uniQure gene therapy

  

On January 22 Huntington’s disease advocacy organizations delivered two petitions to the U.S. Food and Drug Administration (FDA), demanding that the agency reverse its rollback on uniQure’s application for its HD gene therapy.

 

In September, uniQure announced that its drug, AMT-130, had slowed the progression of HD by 75 percent over three years – a historic first. However, reflecting what critics saw as growing dysfunction under the Trump administration, the FDA abruptly switched gears regarding its agreed-to plan for considering AMT-130.

 

HD advocates quickly organized two online petitions. By January 17, they had garnered more than 48,000 signatures.

 

Advocates from HD Reach, Help4HD International, the Huntington's Disease Foundation, the Huntington’s Disease Society of America (HDSA), and the Huntington’s Disease Youth Organization (HDYO) jointly delivered the printed petitions to FDA headquarters in Silver Spring, MD.

 

“We can’t delay any longer,” Lauren Holder, a Help4HD advocate and (like me) an HD gene carrier desperate for a therapy like AMT-130, said in a Facebook video. “It’s important that they hear us.”

 

Surviving HD

 

The 48,000-plus signatures “is not something that the HD community has ever done before,” Holder said. In addition, the “outcry” by advocates to Congress was highly effective, she added.

 

The HD community’s “wonderful job” in speaking up is “important for clinical trials in the future” of gene therapies and other gene-modifying drugs, she said.

 

Holder said that she often hears from HD-affected individuals that “‘I don’t want to be dying from HD; I want to be living with HD.’ These gene therapies and gene-modifying drugs are what get us to that point.”

 

Ramping up the fight

 

In a final, intense push for signatures, Holder on her January 16 podcast interviewed Jeremy Renz, of St. Augustine, FL. His wife tested positive for the HD gene in 2024 and his mother-in-law is in the late stages of the disease. Their family has been affected for many generations.

 

In 2024, Renz was a panelist at the FDA headquarters for a listening session with the HD community, similar to the first such meeting organized by HDSA in 2015, which I attended.

 

Whereas Help4HD and other organizations advocated for one petition, Renz organized another for those families not necessarily linked to formal HD groups.

 

“There’s more young people that are testing,” Renz told Holder. “There’s more young people who are at risk that are getting ramped up and ready to fight the fight.”

 

HD family member Jeremy Renz with petitions advocating for the approval of uniQure's AMT-130 at FDA headquarters, Silver Springs, MD, January 22, 2026 (Facebook photo)

 

A crucial meeting

 

On January 9, uniQure announced that it had scheduled a so-called Type A (high-priority) meeting with the FDA, to take place within 30 days, “to support accelerated approval of AMT-130.”

 

On January 20, Daniel Leonard, uniQure’s executive director of global patient advocacy, distributed a letter to the HD community explaining the purpose of the Type A meeting.

 

“Type A meetings are intended to address urgent issues and help a sponsor, such as uniQure, resolve developmental roadblocks and obtain critical feedback from the FDA,” Leonard wrote. “The extraordinary efforts of the HD community over the past two months have played an important role in raising awareness of the significant unmet need in HD.”

 

Crucially, the Type A meeting will include a representative of the HD community, as of now unnamed.

 

Leonard stated that uniQure will provide an update after receiving the official meeting minutes from the FDA.

 

The HD community has made a difference

 

In their podcast conversation, Holder and Renz noted that the FDA’s backtrack on the AMT-130 plans was “infuriating.”

 

“It’s really, really frustrating for a community that deserves a lot,” Renz said. “We deserve an answer. We deserve treatment. And the time is now.”

 

For HD gene carriers like herself, Holder said a delay in receiving a drug such as AMT-130 reduces the “window” of opportunity for treatment.

 

Holder and Renz concluded by saluting how the HD community had united to work hard on AMT-130 advocacy.

 

“We are definitely stronger together,” Holder said. “We are living history right now. This is something that everybody is going to look back on and say: ‘The community made a difference here, and they pushed through at the right point.’”

As hopes build about the first effective therapy, a Huntington’s disease family reunites

 

After 17 years of estrangement because of disagreements over family caregiving, in July I visited my hometown in Lake County, Ohio, to reconnect with my younger sister Donna. She began having Huntington’s disease symptoms in 2020.

 

In early 2023, Donna told me, via Facebook, that she had tested positive for HD but did not mention whether she had symptoms. I did not respond at that time because of unforeseen circumstances unrelated to HD that led me to step back from HD advocacy, including this blog.

 

In March of this year, I finally responded to my sister, my only sibling. We then spoke on the phone. Donna explained that she had HD symptoms. Despite her HD, we had an understandable conversation. She also revealed that one of her three sons, 37-year-old Greg, had also tested positive for the HD gene.

 

At the end of this emotional phone call, we expressed our love for each other and our respective families. I felt an enormous relief at having reconnected with my sister. Since then, we have texted each other regularly.

 

As an advocate, brother, and gene carrier who has luckily hit 65 without apparent symptoms, I felt duty-bound to check up on my younger sister. She is 63. Our mother Carol died of HD at age 68 in 2006.

 

On July 15 Donna, her husband Barry, my nephew Greg, my wife Regina, and I had a three-hour dinner at a restaurant in Painesville. Though it was, potentially, a very awkward reunion, we reconnected in a most cordial manner.

 

We were family, and we knew we had to reunite to offer mutual support and understanding in the fight against HD. I thanked Donna, Barry, and Greg for forming a team in the annual Huntington’s Disease Society of America Hope Walk (HDSA) fundraiser.

 

I have their permission to write this article.

 

Left to right, Gene Veritas (aka Kenneth P. Serbin), Donna, Barry, Greg, and Regina. Barry is wearing an HDSA Team Hope t-shirt (personal photo).

 

A family reunion – and wonderful news!

 

We all caught up on one another’s lives.

 

I squeezed Donna’s hand firmly several times and looked into her eyes. Because of HD, she had to retire from her job, and recently she stopped driving.

 

Barry, always the dedicated husband and now a caregiver, detailed the adaptations he had made in their ranch house because of Donna’s involuntary movements and instability in walking. She had five falls in their previous, two-story home.

 

As I had remembered him as a child and young adult, Greg was ebullient, enthusiastically speaking of his work as a computer programmer, his car, and his fiancé. He does not have HD symptoms.

 

We also discussed potential HD disease-modifying treatments – slowing, halting, or reversing the progression of symptoms.

 

I especially had in mind uniQure’s AMT-130, about which I had seen a presentation at the 20th Annual HD Therapeutics Conference in February in February. The uniQure program seemed the closest to seeking approval for its drug from the U.S. Food and Drug and Administration (FDA).

 

Since our dinner, we have stayed in touch.

 

On September 24, when uniQure announced that AMT-130 had successfully slowed the progression of HD, I texted Donna and Greg with the news.

 

“Wonderful news!” Donna and Greg both responded, echoing the elation of HD scientists and HD families.

 

I hope that we can continue to rebuild our lost family ties and support one another in the fight against HD, as we once did at the start of our HD journey with my mother’s diagnosis in 1995.

 

Rescuing neurons from death

 

HD occurs because of the massive death of brain cells (neurons).

 

AMT-130 is the first successful disease-modifying HD drug. In the uniQure clinical trial, it achieved its main goal and demonstrated a 75 percent slowing in the progression of the disease over a three-year period.

 

On September 25, Ed Wild, M.D.,Ph.D., a professor of neurology at University College London and an investigator on the uniQure program and senior advisor to the company, gave a podcast interview to HD gene carrier Lauren Holder of Help4HD International.

 

Dr. Wild pointed out that “AMT” refers to uniQure’s original name: Amsterdam Molecular Therapeutics. The Dutch and American company was founded in 1998.

 

Because it is a gene therapy, AMT-130 remains in the body permanently, thus allowing for the running of long clinical trials and without the drawback of a possible placebo effect, Dr. Wild explained. The effect of the drug “appears to be growing” over time, he added.

 

The 75-percent improvement went “dramatically beyond what any one of us could have dreamed of,” he said, adding that cognitive decline also slowed substantially.

 

AMT-130’s effectiveness lies in its reduction of the abnormal huntingtin protein in the brain.

 

Dr. Wild observed that the slowing of the disease has resulted from AMT-130’s “rescuing neurons” from death.

 

Because AMT-130 mainly targets the striatum (deep in the brain), other areas such as the cortex might still need treatment, perhaps done with another type of drug in a combination therapy, Dr. Wild observed.

 

He added that additional studies of the drug might be needed. “We’re up for all of that,” he said. “It’s putting flesh on the bones of what is already a winning recipe.”

 

Important details to be resolved

 

Many important details must be resolved before AMT-130 reaches HD patients.

 

In early 2026, uniQure plans to apply to the FDA for drug approval. Pending approval, the drug would be launched in the U.S. later in 2026. uniQure would need to gear up its AMT-130 operations to coordinate with HDSA and other patient and clinical organizations to inform the HD community about the drug and its availability.

 

Administering AMT-130 is far more complex than the pills or spinal injections used in other clinical trial programs: it involves 12 to 18 hours of brain surgery.

 

Dr. Wild noted that the treatment will be “expensive.” “The drug is made from a virus and so it has to be manufactured in specialized facilities,” he explained.

 

Dr. Wild estimated that, based on previous gene therapies, AMT-130 will cost $2 million per person.

 

“It’s obviously a lot of money, but we’re already spending a lot of money to keep people with Huntington’s cared for, to manage the symptoms, to provide assistance to their families,” he noted. The insurance industry, he said, also will need to agree to pay for the treatment.

 

Waiting for news of who can be treated

 

While the AMT-130 clinical trial included people in stages 2 and 3 of the disease (stage 4 being the worst), “it’s difficult to predict” who would get the treatment of an approved drug, Dr. Wild explained. He said the community needs to have the FDA permit as broad a label as possible: simply “Huntington’s disease.”

 

That label would allow people (like Greg and me) who have tested positive for the HD gene but lack visible symptoms to obtain the treatment. HD research has determined the disease process begins at birth, with the damage building over life, Dr. Wild observed. Gene therapy, a one-and-done treatment, is most potent when done early in life, he added.

 

Because of the conditions of accelerated approval granted by the FDA, uniQure would need to continue monitoring the drug, Dr. Wild said. If the drug does not work, approval can be removed.

 

A critique of AMT-130 and a call for accurate communication

 

Not everyone shares the same enthusiasm for AMT-130. Ignacio Muñoz-Sanjuán, Ph.D., the CEO of Rumi Scientific, a drug discovery company focused on genetic and neurological diseases, published a critique of uniQure’s AMT-130 data (click here to read more).

 

A native of Spain, Dr. Muñoz co-founded Factor-H, a charitable organization seeking to assist poor HD families in Latin America and raise awareness about their plight. He is the former vice president of translational biology for CHDI Foundation, Inc., the largest private funder of HD research and the sponsor of the annual HD Therapeutics Conference.

 

Dr. Muñoz agrees that the AMT-130 results are “a turning point for the field of HD and, more broadly, for the treatment of neurodegenerative conditions at large.”

 

However, Dr. Muñoz raised caveats about AMT-130. He wrote, for instance, that the study “only showed the results derived from 12 patients who have completed the full 36-month period” of the trial and they were “in the early stages” of the disease.

 

Dr. Muñoz urged uniQure to analyze data from “all individuals in the study.” With the “small number of individuals receiving the therapy, one or two people could be disproportionately contributing to the signals of protection demonstrated for the group average.” Twenty-nine volunteers took part.

 

“Families deserve a realistic sense of the commercial path ahead,” Dr. Muñoz added, advising “careful communication” with HD families. Access will “dominate the conversation,” he added, noting that “costs, geography, and the need for specialized neurosurgical centers will slow availability, creating disparities that will frustrate many families worldwide. The path to broad applicability will be slow and difficult.”

 

‘Day one of a new world’

 

I wish my parents, Paul and Carol Serbin, were still alive to witness this moment in the HD journey! An “HD warrior,” my father was my mother’s HD caregiver for over ten years.

 

Paul and Carol Serbin (family photo)

 

Although it is unclear whether Donna, Greg, and I will even have access to AMT-130, the news of its efficacy still brings us immense hope.

 

As my blog has documented the past 20-plus years, HD families face enormous stigma and tensions. I am overjoyed at my family’s rapprochement at this promising moment.

 

As Dr. Wild noted, before AMT-130 more than HD 100 clinical trials had been run, without disease modification.

 

“It’s day one of a new world, but it’s up to us to define the characteristics of that world and make sure that it’s capable of delivering the benefit to everyone who needs it,” including, he said, poor HD families in Venezuela who contributed blood samples in the search for the huntingtin gene.

 

“No one is free until everyone is free,” he said.