uniQure’s AMT-130 at the forefront of 21st Huntington’s Disease Therapeutics Conference

  

AMT-130, the uniQure gene therapy that successfully slowed the progression of Huntington’s disease before being obstructed from approval by the U.S. Food and Drug Administration (FDA), stands at the forefront of the leading HD research conference that starts today, February 23, in Palm Springs, CA.

 

The 21st Annual Huntington’s Disease Therapeutics Conference, which I have described as the Super Bowl of HD research, takes place at the Parker hotel. It is sponsored by CHDI Foundation, Inc., the largest private funder of HD research.

 

“In recent years HD drug discovery has become increasingly anchored in strong human genetic and clinical evidence, allowing us to focus on mechanisms most likely to yield disease-modifying benefit,” wrote Robert Pacifici, Ph.D., the CHDI chief scientific officer, in his welcome letter to the conference attendees. “Few developments capture this momentum more clearly than the recent topline results announced by uniQure from the pivotal Phase I/II study of AMT-130 suggesting that lowering [decreasing] mutant huntingtin in people confers a real clinical benefit, an important proof of biological principle.”

 

Dr. Pacific did not refer to the FDA roadblock but asserted that the AMT-130 “findings represent an encouraging milestone for the HD community.”

 

For its clinical trial analysis uniQure has relied on the CHDI-backed Enroll-HD, the global registry of HD-affected individuals and their families. uniQure has presented its data at the therapeutics conferences.

 

Dr. Robert Pacifici, wearing a Team Hope shirt from the Huntington's Disease Society of America, overseeing the 2025 Therapeutics Conference (photo by Gene Veritas, aka Kenneth P. Serbin)

 

AMT-130 talk in the lead-off

 

Dr. Pacifici and the conference planners scheduled a report on AMT-130 as the first presentation at the start of the opening science session on February 24.

 

David Margolin, M.D., Ph.D., uniQure’s vice president for clinical development, will give a talk titled “AMT-130 slows Huntington's disease progression at 3 years: Propensity score weighting mitigates potential bias from striatal volume absence in Enroll-HD.”

 

Because AMT-130 has been administered via a spinal injection that involves 12-plus hours of surgery, uniQure had no placebo group – those not getting an operation –but instead chose to use data from Enroll-HD as a comparison group.

 

After extensive consultations with the FDA in 2024, uniQure had gotten permission from the agency to use the Enroll-HD data. In November 2025, the FDA told uniQure that Enroll-HD data might no longer be “adequate.”

 

The HD community mobilized immediately, garnering 48,000-plus signatures on two petitions delivered to FDA headquarters on January 22.

 

The abstract of Dr. Margolin’s presentation does not reference the FDA but states that the Enroll-HD data about loss of striatal volume (shrinkage in the striatum, located deep in the brain and severely affected in HD) was helpful in the analysis of the clinical trial data. He reasserted the importance of MRI measurements of such brain loss.

 

Awaiting news about the FDA

 

uniQure announced on January 9 that it had scheduled a high-priority meeting with the FDA, which according to regulations had to occur within 30 days. The FDA must produce final minutes of the meeting.

 

As of this writing, uniQure has not reported on the results of the meeting.

 

At the conference, the several hundred scientists, biopharma reps, and advocates like me will anxiously await the latest news on AMT-130.

 

Stay tuned for my reports on the event.

Giving back during the COVID-19 pandemic

Many advocates for Huntington’s and other rare diseases work passionately and selflessly for their causes.

Now, as the coronavirus pandemic rages, more and more people around the globe want to give back. 

We are all witnessing the testimonies of the doctors, nurses, and other healthcare workers who offer front-line care for the patients hit with COVID-19, the disease caused by the virus.

As a Huntington’s gene carrier who lost his mother to the malady, I, too, want to help – in part because the crisis has postponed or forced online so many aspects of the HD cause (more on this in an upcoming article).

HD activists can and should do their part to help alleviate this crisis!

Preparing for a surge of patients

Worried about the flood of reports about shortages of personal protective equipment (PPE), I reached out to Yale University class of 1982 colleague and freshman roommate Peter S. Kieffer, M.D., an emergency room pediatrician, to see if I could help, perhaps by organizing an online campaign to support him and his institution. Dr. Kieffer works at HSHS St. John’s Hospital in Springfield, IL. An assistant professor at the Southern Illinois University School of Medicine, he also advocates for the chronically mentally ill through Independence Center. 

In 2014, after decades out of touch, Dr. Kieffer wrote in an e-mail that he had discovered this blog and my family’s struggle against HD.

“My heart goes out to you and your family as I have been long aware of the challenges of Huntington's disease, its genetic transmission, and the implications of early testing but have never known anyone personally with the diagnosis,” Dr. Kieffer wrote.

Since then, he and his family have donated generously to the Serbin Family Team in the annual Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA). Several years ago, they visited us during their vacation in the area.

In his response to my March 28 e-mail, Dr. Kieffer explained that “physicians in rural Illinois have had more time to prepare for COVID-19 than our colleagues in big cities.”

“Numbers were small, now cases are becoming more frequent, and we are preparing for a surge in the next few weeks which could very easily surpass the ICU bed and ventilator capacity of our two hospitals,” he wrote. “However, Governor [J. B.] Pritzker's early shutdown may help blunt that curve. Although COVID-19 typically sickens children with less severity, they could still pass it to a white-haired pediatrician like myself! Fortunately, we still have enough PPE for what we need.”

So far, Dr. Kieffer has treated a young child who was a “Patient Under Investigation,” although tests have not yet confirmed COVID-19 in any of his patients, he wrote in an e-mail today.

Dr. Kieffer agreed to contact me should his institution need aid. I know that I personally cannot send PPE or medical equipment, but raising awareness about the local predicament and raising funds could be a way to assist.

Peter S. Kieffer, M.D. (photo by Southern Illinois University School of Medicine)

Donating critically needed blood

There are other ways I - and you - can help now.

After seeing an American Red Cross blood drive appeal on TV a couple weeks ago, I scheduled a donation for March 30. 

Last week, I suspended my minimal meat diet to raise the iron levels in my blood, as recommended by a Red Cross employee, who set me up for a “power red” donation (double the number of red blood cells).

That employee also told me of a critical shortage of blood, as reported by the Red Cross and in the media (click here to read more).

At the donation center, an employee took my temperature at the door, to make sure I had no fever and, therefore, possible COVID-19 symptoms. Donors were spaced about eight feet apart, to avoid contamination, and the nurses and other workers wore not only the typical gloves, but also masks.

Unfortunately, in a pre-donation pin-prick blood test, I fell just shy of the necessary iron level for a power red.

However, I was able to make a simple “whole blood” donation.

Gene Veritas, aka Kenneth P. Serbin, at an American Red Cross blood donation center in San Diego (photo by Gene Veritas)

Running risks for the common good

On the way home I thought: in any public place, we all run the potential risk of contracting the coronavirus, even at a facility like the Red Cross. 

I washed my hands very thoroughly, twice at the facility, then again at home. None of the donors, nor I, wore a mask. However, I may on future trips to public places, given the increasing number of reports about their effectiveness in blocking droplets that might contain the virus.

Like so many other HD gene carriers, I’ve spent many moments monitoring myself for symptoms. Now, I’ve started doing that for the virus.

However, physicians like Dr. Kieffer, first responders, grocery store workers, and so many others risk their health daily for the common good.

We all need to embrace the spirit of Dr. Kieffer’s words to me, echoing one of the signs at the Red Cross: “Thanks so much for your life-giving donation!”

Above, Gene Veritas' blood pack, and below, Gene Veritas in a donor chair at the American Red Cross (photos by Gene Veritas)

‘We can now fear Huntington’s disease less’: reflections on the 14th Therapeutics Conference

As in past years, covering CHDI’s Foundation’s recent Annual Huntington’s Disease Therapeutics Conference in Palm Springs, CA, produced a whirlwind of emotions about the devastating disorder that took my mother’s life and looms over the lives of tens of thousands of HD patients and presymptomatic gene carriers like me.

Last year, I left the conference during the Thursday night farewell dinner to drive 120 miles to my home in San Diego, arriving after 1 a.m. Wired from strong black tea and that evening’s news that the initial Ionis-Roche clinical trial had reduced the amount of the mutant huntingtin protein in trial participants’ cerebrospinal fluid, I worked until 5 a.m. on an article about the “best news for the Huntington's disease community since the discovery of the gene” in 1993.

This year I planned for a calmer post-conference moment by spending the last night in Palm Springs. That allowed me to enjoy and socialize at the dinner, get a good night’s rest after the long, adrenalin-filled four-day meeting, and drive back to San Diego leisurely the next day. I believe that such self-care is important in avoiding disease onset.

The smoother transition back home has helped me reflect on the progress towards HD treatments and solidarity among affected families, advocates, scientists, and drug companies.

‘Rod Man’ and his family’s fight

This was my eighth Therapeutics Conference since 2010.

This year’s event, the 14th annual conference, opened on February 25 with the unusual and deeply moving keynote address by comedian Rod “Rod Man” Thompson, the winner of season 8 (2014) of NBC’s Last Comic Standing reality TV talent competition. Rod was the first African-American CHDI keynoter.

Raw and humorous, Rod’s presentation contrasted sharply with the serious, more formal speeches of most previous keynoters, including mine in 2011.

Rod described the terrible physical, cognitive, and psychiatric decline that HD has wrought in his 66-year-old mother Shirley, who lives in the small Georgia town of Villa Rica.

“I see depression and sadness about stuff that can be a misunderstanding to most people, and they’ll let it go, but she still holds on to it and harbors it,” Rod said.

Because of Shirley’s involuntary movements, the family also keeps kitchen utensils away from her to prevent her from injuring herself or others.

“Now it’s better for her to eat with her hands, because she’s a little shaky,” Rod explained. “Her body’s not the same.”

I cried as I remembered my own mother’s depression and inability to care for herself. She died at age 68 after a two-decade struggle with HD.

Untested, Rod and his two daughters – a college graduate and a high school student – are also at risk.

Rod received a standing ovation.

“What a presentation,” CHDI Chief Scientific Officer Robert Pacifici, Ph.D., observed in his closing remarks on February 28. “It was heartfelt. It was pretty amazing to see, in his own quirky way, how he touched on so many of the things that are so important to families, how important our work is, how difficult it is for the caregivers, how much they’re counting on us to deliver something, how complicated the science is for people who are trying to struggle through with what it means in their lives, the information that needs to get to places, the difficulty of visiting the clinics, and the challenges of participating in some of the clinical trials.”

A future article will feature Rod’s speech.

Huntington's Disease Society of America CEO Louise Vetter with 2019 CHDI keynote speaker Rod "Rod Man" Thompson (photo by Gene Veritas)

Collaboration toward a common goal

I felt especially in sync this year with the scientists and fellow advocates. In our ultra-competitive society, facing HD has helped teach me the value of collaboration. At the conference, we all focused intensely on the common goal of developing treatments.

The HD community is known for the close cooperation between scientists and affected families. As one neurologist wrote me last year, when the scientific and medical leaders of the cause “get together, they by and large have tended to check their egos at the door and just try to do what needs to be done.”

At the conference, I paid special attention to the February 28 talk by Marcy MacDonald, Ph.D., a pioneer in HD research and a member of the team that discovered the huntingtin gene in 1993. Dr. MacDonald presented the latest data on so-called modifier genes, which can affect disease onset by decades.

In the past, I’ve only ever been able to just say hello to Dr. MacDonald. However, during a free moment after her talk, I told of the research’s importance for my own life: it may explain why, with the same level of defect in my HD gene as my mother, I have gone a decade without symptoms beyond her apparent age of onset.

I told Dr. MacDonald that the discovery of modifier genes – and the more precise prediction of onset – might open up a new round of genetic testing for the HD community, although I added that I wasn’t sure I wanted to go through the difficult experience of testing again.

Later, at the farewell dinner, I hugged and thanked Dr. MacDonald for her work, which, as Dr. Pacifici noted, could lead to drugs mimicking the actions of the modifier genes. (Also click here to read more.)

Making a difference

I also interacted with a dozen advocates and family members. We discussed numerous HD-related matters.

For an upcoming article, I interviewed Scott Schobel, M.D., M.S., Roche’s clinical science leader of product development and leader of its HD scientific team, for an update on the company’s historic Phase 3 clinical trial to test the Ionis-Roche gene-silencing drug, which, if successful, could slow, halt, and perhaps even reverse HD symptoms. In the words of Roche personnel, they politely “turned the tables on me” by interviewing me on video about my advocacy and family’s struggle against HD for a forthcoming awareness-building campaign.

Together, I feel we are making a difference in the fight against Huntington’s disease!

The nonprofit CHDI is assisting immensely by providing funding, tools, guidance, and open-source data.

Above, HD advocates Jeff and Debbie Mulligan (seated) with (from left to right, standing) Frances Saldaña, HDSA CEO Louise Vetter and Gene Veritas (aka Kenneth P. Serbin) (photo by David Saldaña). Below, Janet Rafferty (in pink blouse), Roche's international communications leader for neuroscience and rare diseases, interviews Gene Veritas (photo by Charlotte Peterson, Edelman agency).

CHDI’s ‘Oscars’ ceremony

As he does each year, HD global advocate and former NBC News foreign correspondent Charles Sabine – also a presymptomatic gene carrier – added his own dose of humor with his mini-version of the conference Oscars, “The Charles’.” Presented on the last evening, they’re a hit with the audience after three days of nonstop scientific panels.

A notable, quite appropriate honor resulted from the incorrect medical instructions given to keynoter Rod and his family prohibiting his mother from consuming pork, one of her favorite dishes. Thus, Charles stated, the “medical intervention of the conference award” went to man “who told our keynote speaker, Rod Man, that his mom can eat as much pork as she likes.”

The awardee was long-time HD specialist Mark Guttman, a neurologist at the Centre for Movement Disorders in Toronto, ON. (Click here to watch the awards program.)

A certain path ahead

Minutes later, on a more serious note during his closing remarks, Charles displayed the same eloquence exhibited during his introductory statement at the HD community’ historic meeting with Pope Francis at the Vatican in 2017.

In Palm Springs, Charles noted that, thanks to the advances of the scientists, the future path for patients and gene carriers is “no longer unremittingly downward.” This absolutely marks the existence of hope, he added. 

To illustrate his point, Charles recounted his first experience at a recent Huntington’s Disease Youth Organization (known simply as HDYO) summer camp in the United Kingdom, with 65 young people.

“It was the hardest HD event of my life,” Charles said. He recalled how one distraught teen asked him: “Tell me something that you know for certain.”

In his ten years of travels around the world to meet with HD families, Charles had never heard a question so difficult to answer.

“A platitude wouldn’t suffice, nor a statement of which I was not one hundred percent certain,” Charles continued. “After a nod and a big breath, I replied: ‘No generation, yours included, will ever need to fear this disease as much as mine did.’ And the reason that I could say those words with such confidence was the tireless work and commitment of all of you in this room.

“So on behalf of all of those young people around the world, thank you.”

(Click here to watch Charles. Click here for my video album of the 14th Therapeutics Conference.)

Charles Sabine at the HD Therapeutics Conference podium (photo by Gene Veritas)

Pope Francis declares: Huntington’s disease should be ‘hidden no more’

Wow! In a stirring speech at the Vatican transmitted globally, Pope Francis declared to the world on May 18 that Huntington’s disease should be “hidden no more!”

“It is not simply a slogan, so much as a commitment that we all must foster,” the head of the Catholic Church said of the idea embraced by the roughly 1,500 HD family members and supporters gathered at the Paul VI Audience Hall just a few yards from St. Peter’s Square. They had gathered for "HDdennomore: Pope Francis's Special Audience with the Huntington's Disease Community in Solidarity with South America."

“The strength and conviction with which we pronounce these words derive precisely from what Jesus himself taught us,” the pope continued in Italian, as Spanish and English speakers listened to a simultaneous translation on headsets. “Throughout his ministry, he met many sick people; he took on their suffering; he tore down the walls of stigma and of marginalization that prevented so many of them from feeling respected and loved.”

Click here to read the full text of the speech in English.

After the speech, the highly popular and charismatic Pope Francis stopped to greet, hug, kiss, console, and have selfies taken with about 300 HD family members, HD researchers, pharmaceutical company representatives, and dignitaries seated in the front rows of the auditorium.

Overtaken with the pope’s powerful presence, some people cried uncontrollably as he stood before them.

The emotional charge traveled across the crowd. I welled up with tears as he got closer to my family and me in the third row.

After greeting my wife Regina and daughter Bianca and putting his hands on the head of my 78-year-old mother-in-law Lourdes, Pope Francis arrived at my place.

As I had planned, I showed the pope a picture of my mother Carol Serbin and father Paul Serbin, well-dressed and smiling in a formal pose, a photo taken after she had already been diagnosed with HD.

“My mother died of Huntington’s,” I told the Pope in his native tongue of Spanish. “My father cared for her for twenty years.”

I gave Francis a copy of each of my main books on the history of the Church in Brazil, explaining the theme of each with a brief phrase: priestly training and the Church’s struggle against the dictatorship in Brazil. I knew the themes were dear to him as the leader of the world’s Catholic clergy, respected colleague of Brazilian Catholic leaders and their flocks, and untiring proponent of social justice.

Francis said nothing, but he looked me in the eyes.

Somehow, my hands were now firmly holding the pope’s, and I told him: “Many thanks for supporting our community!”

Gene Veritas (aka Kenneth P. Serbin) with Pope Francis, May 18, 2017. In foreground, with back to camera, Bianca Serbin (photos by Regina Serbin).

Then Francis moved on to the next person.

When he finished circulating among the people, Francis returned to the stage, looked back at us and waved, and then exited with his papal entourage.

After listening to some closing music by performers from HD families, we filed out of the auditorium.

As I wrote in a blog note my cell phone, I felt “drunk with excitement” as I left with my family, hugging and taking a selfie with event co-organizer and HD global advocate Charles Sabine, greeting fellow advocates from South America, and at one point becoming disoriented and nearly tumbling to the ground. Regina became concerned that I would injure myself.

We had done it! We had witnessed Pope Francis decisively place Huntington’s disease on the world agenda.

Above, the audience at the May 18, 2017, papal audience on Huntington's disease. Below, Gene Veritas and Charles Sabine (photos by Gene Veritas).

(Click here to watch the audience on the Vatican’s YouTube channel. In my next article I will comment further on Francis’s HD speech and explore in detail the event and its impact.)

(My trip to Rome was made possible by the College of Arts and Sciences, the Frances G. Harpst Center for Catholic Thought and Culture, the International Center, and the Department of History of the University of San Diego. I am grateful for the institutional and moral support of my colleagues and students.)