Latest data show uniQure gene therapy continues to slow Huntington’s disease, but at a reduced rate

  

The latest update from uniQure on its gene therapy for Huntington’s disease demonstrates that it continues to slow the progression of Huntington’s disease, but at a reduced rate compared to data from 2025.

 

Last year uniQure reported that its drug, AMT-130, had slowed HD progression by 75 percent over a three-year period.

 

Breaking its promise to allow uniQure to apply for drug approval in early 2026, the dysfunctional U.S. Food and Drug Administration (FDA) recommended that the company conduct a new, full-blown clinical trial of AMT-130. After the HD community petitioned the FDA and the agency’s ineffective commissioner resigned, uniQure was allowed to submit its application, based on data from people who had completed three years in the study. It did so on September 2.

 

On September 29, uniQure released new data from a group of twelve clinical trial volunteers who had completed four years in the study. (Click here for the press release.)

 

Those individuals showed a slowing of the disease by 44 percent – an encouraging sign but, as uniQure itself acknowledged, not considered statistically significant because that improvement could have occurred by chance.

 

Key measures have improved

 

AMT-130 now has an official generic name, ifezuntirgene inilparvovec.

 

"Four years after a single administration, ifezuntirgene inilparvovec continues to show meaningful slowing of disease progression, further strengthening our conviction in its benefit for people living with Huntington’s disease," Walid Abi-Saab, M.D., uniQure’s chief medical officer, stated in the release.

 

Dr. Abi-Saab reported that at 48 months, Total Functional Capacity (TFC), a primary measure of the drug’s effect, “demonstrated consistent slowing of functional decline.” The higher doses of the drug showed greater benefit, he noted.

 

The updated analysis of those on the drug through 36 months also demonstrated a “substantial effect” on TFC and cUHDRS, another key measure of HD, Dr. Abi-Saab stated. These data reinforce the data already included in the application to the FDA, he added.

 

 

Scientists’ views

 

HD scientists have said that even if the hoped-for 75-percent slowing of HD by ifezuntirgene inilparvovec is less, it could still have a big impact on the disease.

 

Commenting on ifezuntirgene inilparvovec at the Huntington’s Disease Foundation’s biennial conference in August, Sarah Tabrizi, M.D., Ph.D., one of the medical leaders of the uniQure trial, said that the actual effect of the drug could be in the range of 40-50 percent, still a “fantastic” improvement, unprecedented in HD research.

 

"What I find particularly notable in the expanded data is the consistently meaningful treatment effect at 36 months, and the apparent stability of the functional capacity benefit through Month 48,” Victor Sung, M.D., professor of neurology at the University of Alabama at Birmingham (UAB), director of the UAB Huntington’s Disease Clinic, stated in the uniQure release. “Total Functional Capacity tracks things that matter the most to patients and families – ability to work, perform household chores and handle daily self-care activities.”

 

Seeing that treatment effect “maintained at four years is meaningful for people living with this relentlessly progressive degenerative disease," Dr. Sung added.

 

“A 44 percent slowing of disease progression, now out to 48 months, is still unprecedented and of meaningful value to this patient population,” said uniQure CEO Matt Kapusta. “It’s something no other program in Huntington’s disease has been able to achieve.”

 

Hopeful, but complex results

 

The scientist-written website HDBuzz noted the “hopeful, but complex results” in the uniQure update, including the company’s reliance on external comparators rather than a placebo. This results from the rareity of HD and the fact that ifezuntirgene inilparvovec is injected into the brain with a surgery lasting 12-18 hours.

 

“With only a small number of people followed for 4 years, there is uncertainty around this estimate, so the 44% figure should be interpreted cautiously,” HDBuzz wrote.

 

Jeff Carroll, Ph.D., a leading HD scientist at the Allen Institute and like me an HD gene carrier, reviewed the new uniQure data for STAT. Dr. Carroll was not surprised to see the treatment effect of the drug narrow, because the drug was administered to only twelve individuals.

 

“The fact that we continue to see any benefit in cUHDRS functional capacity scores is hugely exciting,” Dr. Carroll said.

 

“I’m not surprised by the four-year results because this isn’t a cure,” commented Help4HD International advocate and HD gene carrier Lauren Holder. “This is a slowing-of-disease-progression treatment, and so I would expect there’s still decline going on, and we’re going to see that on testing, and that doesn’t mean it’s not working.”

 

Advocates meet with FDA at HD roundtable

 

Before these latest actions by uniQure, and in the wake of the crises created by the former commissioner, the FDA invited representatives of six HD organizations to a meeting at its headquarters.

 

The hour-long lunchtime roundtable meeting on July 30 was chaired by Acting Commissioner Kyle Diamantis, along with several staff members.

 

So far, no HD leader has granted me an interview about this meeting. On July 31, they posted a note on Instagram thanking Diamantis for the roundtable.

 

“We appreciate the opportunity to bring together people with lived experience, advocates, researchers and clinicians to engage in meaningful dialogue,” the note stated. “Collaboration like this ensures the voices of the Huntington’s disease community remain at the center of research, drug development, and regulatory decision-making.”

 

The organizations were Help4HD, HDReach, Huntington’s Disease Foundation, Huntington Study Group, Huntington’s Disease Society of America, and Huntington’s Disease Youth Organization.

 

Regarding the FDA, the uniQure data update, and the company’s pending drug application, Help4HD International’s Holder said, “I honestly can’t say one way or the other when it comes to the FDA. We need to make sure we are educating people at the FDA because I don’t want them misunderstanding the numbers [data] and causing an issue.”

 

Holder added that she remains “very hopeful about this treatment and still very impressed with the results.”

Citing lack of efficacy, Roche halts two Huntington’s disease drug programs, while other initiatives forge ahead

  

In deeply disappointing news for the Huntington’s disease community and beyond, Roche announced on July 9 that it stopped two drug development programs because of lack of efficacy in slowing the progression of the disease.

 

Tominersen, a gene silencing drug developed by Ionis Pharmaceuticals, Inc., envisioned as a “laser-guided missile” against HD, in 2021 demonstrated lack of efficacy in a first worldwide trial run by Roche.

 

Roche, however, had believed that tominersen might show at least some efficacy in people at earlier stages of Huntington’s. So it launched a less ambitious second trial in January 2023.

 

In a statement to the HD community, after completing the 16-month treatment period of all trial participants and analyzing the data, Roche stated that “there was no meaningful impact on clinical efficacy for the study participants receiving tominersen, compared to those on placebo.”

 

Roche also said it had halted a preliminary Phase I clinical trial of the HD gene silencing drug RG6496, which had enrolled just three volunteers so far, “because we can no longer offer participants the possibility of long-term treatment” based on data from new animal studies.

 

“We have been humbled and inspired by the 1,500+ HD families and broader community who contributed to both programs – tominersen since clinical studies began in 2015 with our partner Ionis Pharmaceuticals, and RG6496 more recently,” the Roche statement noted. “These contributions changed the history of HD drug development – proving the protein that causes HD could be lowered in humans, shaping new research and approaches, which will undoubtedly lead to future breakthroughs.”

 

 

The setback ‘stings’

 

HD family members expressed sadness about the announcement from Roche.

 

In a Facebook posting, Help4HD International advocate Lauren Holder, like me an HD gene carrier, said the news was “disappointing.”

 

“This was the clinical trial I was participating in,” Jessica Robbins, who has HD, wrote on Facebook, granting me permission to quote her. “Unfortunately, it has come to an end.”

 

Jessica had dedicated two years to the tominersen trial.

 

“I’m not going to lie – am incredibly disappointed and heartbroken,” she wrote. “A setback like this stings, but I don’t regret a single day of it. Even though this door closed, the data from our trial will still help research in the long run. I am proud to have played a part in this fight against HD.”

 

I, too, had hoped to take tominersen, having tracked its development since 2008.

 

Scores of other initiatives

 

Drug development does take years, even decades, as tominersen’s story illustrates.

 

I had found the second trial of tominersen far less compelling, though necessary for the field to advance, because the drug would have been able to help only a portion of HD patients. So the disappointment for me does not match what I felt with the community in 2021.

 

I do remain optimistic that effective therapies will be found – if not for me, at least for those in the next generation, like my nephew Greg Noble, also an HD gene carrier.

 

The HD community has especially focused on uniQure’s AMT-130, a gene therapy that, for the first time, slowed the progression of HD. uniQure and the community have worked tirelessly to overcome the regulatory roadblocks placed by the Trump administration.

 

Roche, too, has not given up on HD science and is working on its own gene therapy.

 

PTC Therapeutics and Novartis have partnered on a clinical trial program using a huntingtin splicer modulator. Skyhawk Theapeutics’ HD program has also shown promise, and the controversial pridopidine, under study by Prilenia, will undergo a new Phase III trial to determine whether the drug can slow progression.

 

Scores of companies continue to work on HD, as do academic labs around the world.

 

I do feel hope!

 

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

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.”

‘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.’”

Overcoming a ‘heartbreaking’ moment for the Huntington’s disease cause (Coping with disappointing clinical trial results – Part I)

 

In the wake of two deeply disappointing clinical trial updates in just one week, the Huntington’s disease community is collectively grieving the loss of drugs that might have provided the first effective treatments for this incurable disorder.

 

As reported here, on March 22 Roche announced that it was halting dosing in the firm’s historic Phase 3 clinical trial of its gene silencing drug tominersen because of unfavorable efficacy data, as seen by an independent review committee.

 

On March 29, Wave Life Sciences revealed that a similar effort – gene silencing drug candidates in two small, earlier-stage trials – had failed to lower the level of the mutant huntingtin protein in trial participants.

 

Whereas Roche partner Ionis Pharmaceuticals’ success in using tominersen to reduce the protein represented a milestone and moment of euphoria in the HD community, the stall in the effort to transform this type of drug into an actual treatment in both the Roche and Wave programs has created one of the most frustrating moments of the last several decades.

 

With its usual resilience, the community and its leaders have responded quickly, organizing outreach events and furnishing resources to put the Roche results in perspective and provide ways to cope with the shock and disappointment.

 

Grieving because of lost hope

 

“It has been heartbreaking,” Katie Jackson, the president and CEO of Help4HD International, said of the Roche stoppage, which, she added, has “rocked the HD community.” Jackson’s husband Michael Hinshaw died of HD in 2019 at age 40, and she has three children at risk for being carriers of the HD mutation.

 

Jackson spoke during a March 24 panel discussion on Help4HD TV titled “Grief – When a clinical trial doesn’t go as hoped it is a loss.”

 

“I’m definitely grieving,” said Help4HD activist and podcast host Lauren Holder, 35, like me a carrier of the HD gene. The mother of two young at-risk children, Holder lost her father Stephen M. Rose, Jr., 62, to HD in January.

 

Holder said that she felt “extremely sad and disappointed and terrified” by the Roche news. The possibility of a treatment was “huge for us to have – to get so close to where it did and have all of the information so good on it” over the past several years, but then suddenly that hope “was taken away.”

 

HD gene carriers “don’t have time to just go back to the beginning” of another trial, “because that could mean symptoms” might have already started, she lamented.

 

“Everyone is human,” observed Help4HD vice president and CFO Katrina Hamel. “We all are feeling something because of this news.”

 

“I felt like someone punched me in the stomach,” said MaryAnn Emerick, an HD family member, in a March 25 webinar on the Roche announcement and grief sponsored by the Huntington’s Disease Society of America (HDSA), where she works as the manager of youth and community services. “I started hysterical crying.”

 

Emerick had built “more hope” in the potential of the Roche trial than she had realized, she added.

 

About 500 people took part in the webinar, including clinicians, scientists, social workers, and HD family members – a sign of both the impact of the Roche announcement and of community solidarity.

 

 

A slide from the HDSA webinar that focuses on the concept of ambiguous grief and compares the textbook-version stages of grief with how grief can actually be experienced by an individual. Presenting the slide is Jennifer Simpson, LCSW, HDSA assistant director of youth and community services (screenshot by Gene Veritas, aka Kenneth P. Serbin).

 

Tracking the project since 2008

 

I, too, have grieved the outcome of the Roche trial. I began tracking the program in April 2008, less than a year after tominersen developer Ionis (formerly Isis Pharmaceuticals) had initiated the search for a gene silencing compound. I reported on every key turn of the project, with many visits to the Ionis facility in Carlsbad, CA, about 30 miles from my house.

 

The prospect of taking an Ionis-Roche drug developed in my own community has long felt like a protective blanket shielding me from Huntington’s. Now, that blanket has been ripped away.

 

Like other HD family members, the Roche announcement has led me to relive the difficult moments in my family’s HD history, including my mother’s inexorable decline and then death in 2006. Since the day of the Roche news, I have aggravated the unhealthy, usually unconscious habit of clenching my teeth.

 

I do add my deep thanks to the chorus of gratitude for the participants in the Roche trial and their families and – once the data is analyzed in the coming months – for their contributions to a greater understanding of HD science. In Emerick’s words, “They are the foundation for the future.”

 

The team effort was not a ‘failure’

 

Other perspectives on clinical trials can perhaps help the community overcome the grief and disappointment.

 

In 2005, when I was preparing articles for the HDSA-San Diego chapter newsletter on a research project in San Diego sponsored by the Hereditary Disease Foundation, a scientist educated me on a key point: if a scientific experiment does not produce the desired result, that does not mean it failed. On the contrary, such an experiment is valuable in its own right because it brings forth new information and helps point the way for future experiments.

 

Clinical trials are scientific experiments, a fact underscored by the scientific and medical personnel at the HDSA webinar. Interestingly, nobody said “failure” at that event nor at the one by Help4HD.

 

Indeed, the Roche and Wave trials should not be considered failures – especially because of the very large team efforts involving not just the scientists and the participant families, but many kinds of support staff from inside and outside those firms.

 

Riding – and learning from – the clinical trial roller coaster

 

Emerick described another common feeling that can ultimately help the community move forward in the search for effective treatments: “I’m going on this roller coaster ride of emotion and feeling super-motivated and resilient and then all of a sudden just wanting to cry and wanting to know why – give us answers.”

 

Leading HD scientist Robert Pacifici, Ph.D., anticipated this scenario in February 2020. At that point, Roche was approaching the midpoint of its trial and, significantly, other clinical trials were also ramping up – as others do today.

 

“Getting to this stage – which we’ve all so been hoping for – is still a bit of a roller coaster ride,” Dr. Pacifici told me in an interview at the 15th Annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc., the nonprofit virtual biotech dedicated solely to finding HD therapies and headed by Pacifici. “You have to be able stay in our seats and weather the ups and downs. I think we’re well-poised for some great news, as some of these trials hopefully report out. Even a whisper of efficacy would be just amazing.”

 

However, there will also be “disappointments, where, despite our best attempts, some of the things that showed so much promise didn’t end up meeting their endpoints,” he cautioned. “But it’s going to be a learning roller coaster. So hang in there. Don’t lose hope.”

 

The HD-affected (and their caregivers) should keep informed about the trials by consulting their physicians, attending meetings of patient organizations, and keeping abreast of developments in such sources as HDBuzz and this blog, Dr. Pacifici advised.

 

Become knowledgeable, he urged, “so that you are not disproportionately spooked or elated when these bits of information come out.”

 

Many of us are scared. However, in the words of my “HD sister” Holder, now is the time to reach out to one another, and remember that the scientists have continued their quest.

 

Nobody has to ride that roller coaster alone.

 

(The second part of this series will examine other key programs in the Huntington’s disease drug pipeline.)

 

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