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.”

As FDA faces demands for greater clarity, uniQure presses ahead in search for Huntington’s disease gene therapy approval

  

As the reportedly dysfunctional U.S. Food and Drug Administration (FDA) faces demands for greater clarity in the wake of rare-disease drug denials, uniQure continues to seek a path to get AMT-130, its historically efficacious Huntington’s disease gene therapy, approved.

 

On March 2, after having surprisingly reneged last year on its promise to allow uniQure to apply for AMT-130 approval in 2026, the FDA “strongly recommended” that the firm conduct a new, full Phase III clinical trial.

 

In March, Wisconsin Sen. Ron Johnson, a Republican, launched an investigation of the FDA’s rejections of rare disease drugs. He described the FDA’s request for a new AMT-130 trial, which would include a deeply invasive sham surgery for participants not getting the actual drug, as “bureaucratic idiocy.”

 

In an April 1 letter, the Rare Disease Advocacy, Biotechnology, and Investor Coalition urged President Trump and top administration health officials to restore regulatory clarity at the FDA.

 

A new way to win approval?

 

A possible avenue to AMT-130 approval opened on April 14. Teresa Buracchio, M.D., head of the FDA’s Office of Neuroscience, said at the National Organization for Rare Disorders (NORD) symposium in Arlington, VA, that the agency’s “plausible mechanism framework” for approval of bespoke gene therapies might be applied “to approve other therapies.” The news site Fierce Biotech reported on the symposium.

 

A bespoke therapy is given to a single individual, such as “Baby KJ,” the world’s first individual to be treated with a personalized (customized) CRISPR gene editing therapy, in 2025. KJ was born with a rare metabolic disease, severe carbamoyl phosphate synthetase 1 (CPS1) deficiency. The child is now thriving.

 

After FDA leaders raised the topic of individualized therapies in a November 2025 The New England Journal of Medicine article, the FDA in February issued a draft guidance for a new path to such treatments, calling it the “plausible mechanism framework.”

 

Dr. Buracchio observed that the framework is not specifically an approval pathway but a set of regulatory principles being applied to customized therapies for the first time, Fierce Biotech reported.

 

The special challenges of HD science

 

The Fierce Biotech article noted that Dr. Buracchio’s comments “offered some clarity to a confused rare disease sector rattled by high-profile regulatory drama.” That drama has resulted in part from uniQure’s use of patient registry data (also known as a natural history study) to analyze AMT-130, which was rejected by the FDA “even as such methods are part of the criteria that could enable approvals for tailored gene-editing therapies under the plausible mechanism framework.”

 

In March, the FDA had pointed out that AMT-130 is not an individualized therapy.

 

However, Dr. Buracchio said that the plausible mechanism framework “shouldn’t be a disadvantage” to non-individualized therapies.

 

Dr. Buracchio stated that the FDA is open to applying the plausible mechanism framework “conceptually” to Huntington’s disease broadly, or other diseases of comparably-sized populations.

 

A therapy needs to show “substantial evidence of effectiveness and a substantial improvement that’s clear and distinct from the natural history of the disease,” she said, noting that KJ demonstrated marked improvement in symptoms and reached developmental milestones.

 

By comparison, a slowly progressive neurodegenerative disease like HD “is going to be a harder case to make,” Dr. Buracchio said. “That’s because slowing the rate of decline is much harder. So, to me, this is less of a number issue and more of a nature of the disease issue.”

 

Presenting AMT-130 to the rare disease symposium

 

At the NORD symposium, David Margolin, M.D., Ph.D., uniQure’s vice president for clinical development, gave a presentation on AMT-130, addressing the FDA’s concerns.

 

As reported by Fierce Biotech, in response to the FDA’s requirement that the company run a Phase III trial and Dr. Buracchio’s point about the slowness of HD, Dr. Margolin stated that this slow progression makes it nearly impossible to show clear efficacy over a short period. This creates an “ethical challenge” when giving some patients a placebo or having them undergo the sham surgery.

 

As presented by Dr. Margolin at numerous conferences, including the key 21st Annual HD Therapeutics Conference in February, AMT-130 demonstrated a 75 percent slowing of HD progression over three years. (The conference is sponsored by CHDI Foundation, Inc., the largest private funder of HD research.) This was the first time that a drug has delayed HD.

 

Dr. David Margolin at the 2026 HD Therapeutics Conference (photo by Gene Veritas, aka Kenneth P. Serbin)

 

Enroll-HD in place of a placebo

 

A second Fierce Biotech article on the NORD symposium focused on how academics and biopharma leaders are breaking the mold of traditional clinical trials with creative methodologies, aiming to garner interest and support from peers and regulators.

 

A common approach in rare disease drug development is the use of an external control or comparator, which replaces the placebo in a classic clinical trial. As noted, instead of a sham trial, uniQure took this approach by using data from the HD patient registry, called Enroll-HD.

 

With more than 22,000 participants, Enroll-HD is “one of the most remarkable prospective registry trials that's ever been run,” according to CHDI Chief Scientific Officer Robert Pacifici, Ph.D.

 

Tracy Beth Høeg, M.D., Ph.D., the acting director of the FDA’s Center for Drug Evaluation and Research, stated at the NORD event that the agency is finalizing guidance on external controls. This, she added, will hopefully “give clarity to sponsors about what sort of evidence we would be looking for and willing to accept for approval of rare disease drugs.”

 

As reported by Fierce Biotech, Dr. Margolin spent much of his NORD talk on uniQure’s use of a statistical technique known as “propensity score matching.” As he explained at the Therapeutics Conference, this involves finding in Enroll-HD individuals similar to those in the uniQure trial and including them as controls. At the NORD meeting, he pointed out that the difference between AMT-130 clinical trial participants and the individuals uniQure selected from Enroll-HD was negligible.

 

Dr. Margolin also responded to the FDA’s criticism that one of the clinical trial measurements uniQure used for AMT-130 was too subjective, leaving the participants susceptible to a placebo effect that could not be detected when using Enroll-HD.

 

An ongoing dialogue with the FDA

 

“I know there’s active dialogue with FDA and the Huntington’s disease organizations regarding how to interpret and best utilize these clinical scored measures, and that’s an ongoing process,” Dr. Margolin stated.

 

Meanwhile, the HD community and its allies continue to pressure Congress and public officials to focus on HD and bring AMT-130 a fair hearing at the FDA.

 

Or, in the current political and business climate, perhaps the HD community also needs a vast stroke of good luck, celebrity connections, and publicity, as biotech observers have noted with dark humor.

 

Joe Rogan to the rescue?

 

On April 18, Pearl Freier, president of Cambridge Biopartners, Inc., asked on the social media platform X how the HD community could overcome an FDA rejection based on the “personal negative opinion” of FDA Commissioner Marty Makary and/or U.S. Secretary of Health and Human Services Secretary Robert F. Kennedy Jr.

 

She added: can the HD community make a deal with growth stage venture capital firm and prediction market company “Kalshi and/or Polymarket?”

 

Adam Feuerstein, the senior writer covering biotech at the essential STAT, responded to Freier’s post: “I guess people living and dying with Huntington’s disease need an influencer/podcaster to text Trump. That’s how the FDA works these days.”

 

Feuerstein linked to an X post detailing how popular podcaster Joe Rogan revealed how the president “IMMEDIATELY offered FDA approval for a psychedelic treatment in a text chain Because the data was SO CONVINCING and STUNNING.” The treatment is for depression and other conditions.

 

Finding comfort in Pope Francis’ embrace of the HD community

 

These are trying times for the world, with the U.S. again in a major war and world peace once again at risk. For the HD community, it is distressing that AMT-130 is rejected after seven years of clinical study by uniQure.

 

For comfort I remember highlights of the HD cause such as Pope Francis’ 2017 audience with HD families, declaring that the disease should be “hidden no more” and HD families respected and loved. I also look with hope to the first American head of the Church, Pope Leo XIV, who has continued Francis’ emphasis on mercy.

A Senate probe of the FDA and a letter from advocates to Trump could aid in approval of Huntington’s disease gene therapy

  

Two key political developments could aid uniQure’s effort to seek approval of its historically efficacious Huntington’s disease gene therapy, AMT-130, from the U.S. Food and Drug Administration (FDA): a senatorial probe of the FDA and a letter to President Trump from rare-disease advocates.

 

As reported widely, uniQure is preparing for yet another meeting with the FDA to discuss the potential Phase III large-scale clinical trial required by the agency to further test the efficacy of AMT-130. Since its start in 2019, the Phase I/II trial has involved some 45 people. In September 2025, uniQure revealed that 17 of the individuals receiving the highest dose of AMT-130 had a slowing of progression of HD by 75 percent. The FDA, seen by many biotech observers to have become dysfunctional under the Trump administration, then surprisingly reneged on a promise to allow uniQure to apply for approval in 2026.

 

On March 9, Wisconsin Sen. Ron Johnson, a Republican, announced that he had launched an investigation of the FDA because it had rejected drug applications for several rare diseases.

 

Senator Ron Johnson (official congressional photo)

 

Johnson described the FDA’s request for a new AMT-130 trial, which would include a deeply invasive sham surgery for participants not getting the actual drug, as “bureaucratic idiocy.”

 

AMT-130 requires a twelve-hour surgery to inject the drug deep into the brain. The sham surgery would serve as a placebo in the clinical trial.

 

“You’re expecting people to go through sham surgeries where they get holes drilled in their heads?” Johnson said. “That’s just unbelievable.”

 

As part of his probe, Johnson is seeking denial letters from the FDA. Referring to the agency, he said that the “stories are outrageous. It just appears that they’re looking for excuses to say no.”

 

The senator added: “We’re going to find out exactly what issues the FDA listed for their ‘nos’.”

 

A sham surgery could pose ‘significant risk’

 

Johnson’s office did not respond to my request for an interview.

 

Walid Abi-Saab, M.D., uniQure’s chief medical officer, told the key publication Neurology Today that a sham controlled study “could impose significant risks and burden to patients” and that some people may consider it unethical.

 

Dr. Abi-Saab added that volunteers facing the sham surgery could not access other potentially disease-modifying therapies advancing through trials involving several years of observation.

 

Early in the AMT-130 program, uniQure used a sham surgery in several individuals but then stopped precisely because of ethical concerns.

 

Advocacy groups such as the Huntington’s Disease Youth Organization (HDYO) also have cautioned against the sham surgery.

 

In a March 6 e-mail, the organization stated that the “use of a sham neurosurgical procedure – requiring participants to undergo the risks of major surgery to the head including a lengthy time period under anesthesia without the possibility of therapeutic benefit – places an unnecessary burden on individuals already facing a progressive and fatal condition.” HDYO urged the use of “alternative trial designs … while minimizing avoidable risk to participants.”

 

Seeking to restore regulatory clarity

 

According to a report by Reuters, on April 1 the Rare Disease Advocacy, Biotechnology, and Investor Coalition sent a letter to President Trump, U.S. Health Secretary Robert F. Kennedy Jr., Medicare head Mehmet Oz, M.D., and FDA Commissioner Marty Makary, M.D.

 

The letter urged the leaders to restore regulatory clarity at the FDA as it considers a new leader for the agency’s Center for Biologics Evaluation and Research.

 

Headed by Vinay Prasad, M.D., who has resigned for the second time, the Center evaluates gene therapies such as AMT-130. Dr. Prasad’s departure follows a series of controversies involving the review of vaccines, gene therapies, and biotech drugs, including reversals of FDA promises. Biopharma executives, investors, members of Congress and others have criticized his actions.

The coalition includes nearly 100 patient disease advocacy groups, biotech executives, and investors. The letter noted that the Center had become less flexible in overseeing rare disease clinical trials.

 

The group has observed a drop in rare disease investment because of the uncertainties caused by the FDA.

 

“We believe it is of the utmost importance that the FDA chooses [for the Center] a leader who understands the unique challenges of rare disease development and respects and values the views of patients and physicians,” their letter stated.

 

A chance for the FDA ‘to reset’

 

An April 1 report by the news site BioPharmDive echoed the advocates’ critical analysis of the FDA.

 

The report observed that, after a “turbulent year” at the FDA caused by “constant leadership changes” and “erratic decision making,” the agency is as “unpredictable as it’s ever been.”

 

BioPharmDive concluded that Dr. Prasad’s departure by the end of April “could give the FDA a chance to reset.”  Commissioner Makary promised to name a replacement before he leaves.

 

‘We can’t afford delays for rare diseases’

 

On February 26, Florida Sen. Rick Scott, another Republican, chaired a hearing of the Senate Special Committee on Aging, which addressed the FDA’s difficulties.

 

At the hearing, physicians, biotech leaders and rare disease patient advocates criticized the FDA for stifling innovation.

 

The hearing discussed FDA reversals of previous agreements that it had made with drug makers. One advocate pointed out that, from 2024 to 2025, the FDA had 65 percent fewer advisory committee meetings for new drugs and biologics (a medicine derived from a living organism as opposed to a chemical), including for rare diseases.

 

At the hearing, New York Sen. Kirsten Gillibrand, a Democrat, pointed out that about one in ten Americans have a rare disease. She stated that the FDA is “not working how it should be” as laid out by Congress.

 

“This is heartbreaking for patients, and it’s why we can’t afford delays and disruptions in treatment,” Gillibrand observed. “Rare diseases can progress rapidly, cause irreversible harm and, in some cases, premature death.”