At CHDI conference, advocates inspire acceleration of quest for Huntington’s disease therapies

 

With a record 420-plus participants, the 19th Annual Huntington’s Disease Therapeutics Conference got under way on February 26 with the aim of speeding the quest for therapies to slow, halt, or reverse the symptoms of this incurable disorder.

 

Sponsored by CHDI Foundation, Inc., the largest private funder of HD research, the event runs through February 29 at the Parker hotel in Palm Springs, CA, and will feature three days of scientific and clinical presentations.

 

“In recent years the quest for HD therapeutics that will make a real difference to affected families has accelerated and deepened,” CHDI Chief Scientific Officer Robert Pacifici, Ph.D., wrote in a welcome letter to the participants. “Accelerated in the sense that every week seems to bring new scientific insight, whether from publications or reports on new and ongoing clinical initiatives. Deepened in the sense of the sophistication of our understanding of the underlying HD biology that informs our drug development work.”

 

HD research has also “broadened,” Dr. Pacifici added, noting that participants are displaying a record 140-plus posters. Representatives from 55 pharmaceutical and biotech companies and 69 academic institutions will take part.

 

In his letter and opening remarks to the conference, Dr. Pacifici outlined how CHDI has reorganized its scientific-thematic approach to “better align” its activities “with this burgeoning body of knowledge.”

 

The conference, following such themes, will focus on new research into the roles of mutant huntingtin DNA, RNA, and protein in HD. Conference-goers also will focus on the hot topic of somatic instability, the tendency of the deleterious expansion of the DNA to worsen with age and therefore trigger disease onset.

 

A caregiver’s moving keynote and a vital TED Talk

 

Following Dr. Pacifici’s overview, the audience watched a deeply moving 80-minute keynote speech, not to be shared publicly, by Cheryl Sullivan Stavely, RN. Stavely recounted her 30-plus years as an advocate and caregiver to her late husband John and daughter Meghan, who both succumbed to HD.

 

Stavely thanked the scientists for their dedication and said she hoped that 30 years from now HD conferences will become unnecessary with the development of treatments.

 

Choking up at Stavely’s recollections of Meghan, I found the keynote highly effective in summing up the many health and social challenges faced by HD-affected people and their families such as the affected person losing the ability to work and making insurance and end-of-life arrangements.

 

Scroll to the end of this article for photos of Stavely’s presentation and others.

 

Earlier, I interviewed leading HD global advocate, Emmy Award winning television journalist, and fellow HD gene expansion carrier Charles Sabine about his compelling TED Talk “The Unlimited Capability of Every Human.” Launched on February 1, the talk already has had 4,500 views.

 

Sabine stressed the importance of making the presentation “gather viral momentum” and transform the way HD is viewed by the general public everywhere. I will explore the implications of Sabine’s vital talk in a future article.

 

Stay tuned for further coverage of the therapeutics conference. 

 

Displaying a slide of daughter Meghan, Cheryl Sullivan Stavely delivers the keynote address at the 19th HD Therapeutics Conference, February 26, 2024 (this and the photos below by Gene Veritas, aka Kenneth P. Serbin).

The audience watching Stavely's presentation

Cheryl Sullivan Stavely and husband Kevin Stavely

 

Leslie Thompson, Ph.D., of the University of California, Irvine, greeting Kevin and Cheryl Stavely

 

Stavely with Karen Anderson, M.D., of Georgetown University

 

Stavely (left) with Haiying Tang, Ph.D., of CHDI and Wenzhen Duan, M.D., Ph.D., of Johns Hopkins University
 

Huntington’s disease advocates, scientists generate hope after a difficult year in the search for treatments

 

In one of the most difficult years emotionally in the fight to conquer Huntington’s disease, advocates, scientists, and HD-affected individuals have generated hope as 2021 draws to a close.

 

The “heartbreaking” news in March about the disappointing results of the greatly anticipated Roche and Wave Life Sciences clinical trials was compounded by the devastating, ongoing coronavirus pandemic.

 

Last year at this time, leading global HD advocate Charles Sabine, a British former international correspondent for NBC-TV, launched his inspiring film Dancing at the Vatican, about Pope Francis’ embrace of the global HD community, on YouTube.

 

Like the pope’s 2017 special audience with the HD community in Rome, Dancing at the Vatican brought great hope and joy.

 

Now Sabine has just released another heartening film, Hoping Machine, a 60-minute documentary that, he says, “encapsulates many core principles” of the pope’s declaration that it is time for HD to be “hidden no more”: the “corrosive nature of denial and hidden secrets” and the “empowerment that springs from knowledge, understanding, collaboration and community.”

 

“I truly believe Hoping Machine offers the most important perspective that anyone involved in HD right now – researchers, clinicians or families – could hear,” Sabine wrote me by e-mail.

 

You can watch Hoping Machine for free by clicking on this link.

 

Powerful HD journeys

 

Hoping Machine takes its title from the song by American folk music giant Woody Guthrie, who died from HD in 1967, the year his former wife Marjorie founded the Huntington’s Disease Society of America (HDSA).

 

The film depicts the gripping recollections of HD family members, and also several scientists, of their experiences as keynote speakers at what I have called the “Super Bowl” of HD research, the annual Huntington’s Disease Therapeutics Conference. Beginning in 2006, the conferences are sponsored by CHDI Foundation, Inc., the abundantly funded, nonprofit virtual biotech aimed solely at developing HD therapies.

 

These speakers have all told powerful stories about their HD journeys, including using the keynote to go public about their HD status for the first time (my case in 2011) and exploring the most intimate and difficult aspects of life with HD.

 

Inspired by the scientists’ dedication

 

They have also sought to both inspire and thank the scientists.

 

“Here I am, affected by Huntington's disease, and I'm relying on all of you guys, all of the scientists, everybody working in the HD community,” keynoter Amy Merkel recalled of her talk in Palm Springs, CA, in February 2020. “I'm relying on you for life.”

 

Sometimes, when she has experienced symptoms, “I just kinda wanted to crawl under the covers and stop trying,” Merkel continued. “That speech and that time in Palm Springs kind of lifted me a little. You can do this.”

 

A licensed practical nurse, Merkel had abandoned her “dream” of becoming a registered nurse (RN) “because I knew I was gene-positive” for HD, she said. However, “the advances that all of the scientists have made in Huntington’s research” convinced her to study to become an RN.

 

Amy achieved her goal: "I'm a registered nurse, and I currently am working as a sexual abuse nurse examiner in southern Arizona."

 

 

Amy Merkel poses with researchers Dr. Sarah Tabrizi (far left), Leslie Thompson, Ph.D. (second from right), and Gillian Bates, Ph.D. (far right), at the 15th HD Therapeutics Conference, held in in Palm Springs, CA, February 2020 (photo by Gene Veritas, aka Kenneth P. Serbin).

 

Good news from the KINECT-HD trial

 

Another glimmer of hope – and a sign that HD science marches on – came on December 7 with the release of “positive” data from the KINECT-HD phase 3 clinical trial to test the efficacy, safety, and tolerability of Neurocrine Biosciences’ drug valbenazine. The initial trial data demonstrated that valbenazine, as intended, reduced chorea, the involuntary, dance-like movements that are the principal motor symptom of HD.

 

Marketed by San Diego-based Neurocrine as Ingrezza and already approved by the U.S. Food and Drug Administration (FDA) for the neurological disorder tardive dyskinesia, valbenazine is the same type of drug as the two other FDA-authorized drugs for chorea, Xenazine (2008) and Austedo (2017).

 

According to the Neuocrine press release, Ingrezza reduced the total motor score (a measure of the severity of chorea) by 3.2 points versus placebo in the trial participants.

 

This result was very close to reduction of the 2.5 points in Austedo and the 3.5 points in Xenazine.

 

As the release explained, the total motor score is part of the motor assessment of the research tool known as the Unified Huntington’s Disease Rating Scale (UHDRS®) and “measures chorea in seven different body parts, including the face, oral-buccal-lingual region, trunk and each limb independently.” The total motor score is the sum of the individual scores and ranges from 0 to 28.

 

Like Xenazine and Austedo, valbenazine is a VMAT2 inhibitor.

 

Initial data about Austedo (deutetrabenazine) indicated that patients “felt better” overall after taking this drug. In addition, Austedo requires only two daily doses, versus Xenazine’s three (click here to read more).

 

Ingrezza is even more convenient: the KINECT-HD trial used just one daily dose.

 

Critical: no suicidal behavior observed

 

Critically, and also in contrast with the other two drugs, “no suicidal behavior or worsening of suicidal ideation was observed in the valbenazine-treated subjects in this study,” the Neuocrine statement said.

 

Neocrine partnered in KINECT-HD with the Huntington Study Group (HSG), the leading HD clinical trial administrator and research platform. In a first for the HSG, KINECT-HD trial participants used wearable sensors for continuous monitoring of their movements and other biological functions, even at home. (Click here to read more.)

 

In 2022, after a complete review of the trial data, Neocrine will report its findings in greater detail at a medical conference, and it will submit the drug for FDA approval for use in HD.

 

“The positive results of the KINECT-HD study are very exciting for the HD community,” Jody Corey-Bloom, M.D., Ph.D., the director of the HDSA Center of Excellence at the University of California, San Diego, wrote me on e-mail. “Although valbenazine is not a disease-modifying therapy, it will clearly be a highly effective therapeutic option for one of the most common symptoms in HD – chorea.”

 

“Completing ANY clinical research trial successfully in the midst of the COVID-19 pandemic is cause for excitement, and a testament to the tenacity of HD patients, families, and research teams,” wrote Martha Nance, M.D., the Center of Excellence director at Hennepin Health Care in Minneapolis, MN. “The favorable results are not terribly surprising, since two other similar drugs have been approved previously – but they are certainly reassuring.”

 

Maintaining the commitment to patients

 

The “holy grail” for the HD field – and other neurological diseases – is a treatment that prevents people from ever developing symptoms.

 

Comparing Ingrezza’s success with this bigger challenge, Dr. Nance offered a partial explanation to what she described as a large and complex challenge.

 

“It only takes a few weeks or months to document that a drug reduces the severity of a symptom (chorea, depression, insomnia), but takes years to show that a drug is slowing the progression of a disease that progresses slowly over years,” she wrote. “We have not gained a toehold on slowing nerve cell loss in any of these conditions.”

 

However, because the scientists have advanced to attempting treatments aimed at the disease’s roots ­– DNA and RNA – “there is good reason to hope.”

 

“Building on the unsuccessful trials that were so disheartening to the global HD community earlier this year, I counted no fewer than thirteen companies moving towards clinical trials of DNA/RNA-directed treatments at our recent HSG research conference in November,” she noted.

 

Dr. Nance wrote that we should be “thrilled” that 2021 has ended on a favorable research result and “maintain our commitment to work together to find better treatments for the HD patients of the future.”

After a horrid year, free streaming of ‘Dancing at the Vatican’ is an inspirational gift and a call to aid Huntington’s disease families

Dancing at the Vatican, the 38-minute documentary featuring South American Huntington’s disease-afflicted families’ remarkable 2017 encounter with Pope Francis at the Vatican, will be streamed indefinitely on YouTube for free starting December 1.

“The film has a distinct Christmas theme – the surprise invitations to the HD families in Latin America all arrived on the Epiphany,” wrote Dancing at the Vatican producer and narrator Charles Sabine in a recent e-mail to me, referring to the Catholic feast day, January 6, on which the HD families in South America received the official invitations to meet the pope. “So, I am going to be encouraging people to regard this as an inspirational gift at the end of a pretty horrid year.”

 

HD families from Colombia, Venezuela, and the pope’s homeland, Argentina, had met with the pontiff at #HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America (click here to read more). Some 1,500 HD family members and their supporters – including my family and me – attended from around the world.

 

For the first time, a world leader had recognized Huntington’s disease.

 

Pope Francis with HD families in Rome, May 18, 2017 (photo by #HDdennomore)

 

Online starting December 1

 

Starting December 1, you can watch Dancing at the Vatican by clicking here. Also, the English-language film now has versions with subtitles in French, German, Italian, Portuguese, and Spanish.

 

The producers request that people click on the “subscribe” button on YouTube and leave comments on the film to help facilitate tracking of its viewings and to further support the HD cause. In the spirit of a heartwarming holiday gift, they also ask that viewers share the video with at least two people who have not heard about HD before.

 

According to Ignacio Muñoz-Sanjuán, Ph.D., a leading HD researcher and a co-organizer of #HDdennomore along with Sabine, the papal audience brought “critical” recognition to HD families living in “extremely vulnerable conditions.”

 

“This has touched them and their communities in many ways,” Dr. Muñoz wrote me. “But their plight continues, and the documentary should be a call to action to help those in most need, regardless of where they live in the world.”

 

In the spirit of Dancing at the Vatican, the HD community can come together to “give voice to the voiceless” and raise badly needed funds for local patient associations as well as Factor-H, a nonprofit organization that he co-founded to aid Latin American HD families, Dr. Muñoz added.

 

A message for all faiths and backgrounds

 

Dancing at the Vatican captures key moments of the impoverished, disease-stricken families’ extraordinary journey – some had never ventured beyond their home towns; some even lacked birth certificates – to their meeting with the Spanish-speaking Francis, the first Latin American pontiff in the Catholic Church’s 2000-year history.

 

#HDdennomore was open to people of all faiths and backgrounds, as were the three in-person screenings of Dancing at the Vatican in Los Angeles, London, and San Diego.

 

Sabine and the film’s organizers had hoped to organize additional screenings in the U.S., Europe, and South America.

 

However, the COVID-19 pandemic – which has made 2020 a trying year for all of humanity – forced the organizers to scuttle those plans. Instead, they have focused on the plan to provide free online access to Dancing at the Vatican.

 

Depending on the local impact of the pandemic, some communities might organize in-person screenings, Sabine explained.

 

“For example, in New Zealand, where COVID-19 has been virtually eradicated, there will be screenings in the first week of December in actual full movie theatres,” he noted.

 

Taking on HD families’ suffering

 

Sabine said that the Vatican’s communications department will help promote the online launch. In addition, the producers will promote the film “on all the relevant family organization websites and social media” and also reach out to clinicians, pharmaceutical companies, and nonprofits involved in HD, he said.

 

The screenings and publicity about the online screenings have been sponsored by Roche, Ionis Pharmaceuticals, Inc., Wave Live Sciences, and Takeda.

 

According to Sabine, the film demonstrates that “anything can be achieved if you put together enough people who believe that nothing is impossible.”

 

Also, he suggested, the HD community can use Dancing at the Vatican to promote the cause by “showing that, as Pope Francis said, it is time for HD families to be ‘Hidden No More.’” 

 

Dr. Muñoz pointed out that HD continues to devastate the South American families portrayed in the film. (An upcoming article will update the families’ stories.)

 

The film and the efforts of advocates such as Sabine and Dr. Muñoz echo the words of Pope Francis, who in his speech at #HDdennomore emphasized “what Jesus himself taught us.”

 

“Throughout his ministry, he met many sick people,” Francis stated. “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.”

Planning a ‘Dancing at the Vatican’ screening to celebrate the global Huntington’s disease community’s journey

On February 19, the University of San Diego (USD) will host the world’s third screening of Dancing at the Vatican, the short documentary featuring South American Huntington’s disease-afflicted families’ historic 2017 encounter with Pope Francis at the Vatican.

As I noted in my preview before the July 2019 premiere of this 38-minute film in Los Angeles, Dancing at the Vatican captures key moments of those impoverished, disease-stricken families’ journey to their meeting with the Spanish-speaking Francis, the first Latin American pontiff in the Catholic Church’s 2000-year history. It was extraordinary: some had never ventured beyond their home towns; some even lacked birth certificates.

Now, as both an HD advocate and faculty member in USD’s Department of History, I’m helping organize the upcoming screening, and hope many more people will see it. 

Dancing at the Vatican also will be shown in London on February 5. Showings are also confirmed for Washington, D.C., in March (date and place TBA), and at the Huntington’s Disease Youth Organization conference in Glasgow, Scotland, in May. Screenings are under consideration for South America, too. Ultimately, the film will become available online.

In the words of producer and narrator Charles Sabine – like me, a presymptomatic HD gene carrier – coming together to view Dancing at the Vatican is an occasion of “extraordinary celebration” for the Huntington’s community.

An Emmy-award-winning former NBC-TV foreign correspondent, Sabine helped spearhead “HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America.” Both Sabine's father and brother died from HD.

While Dancing at the Vatican captures what I called in my preview “the underside of the HD world” – families dealing simultaneously with one of humanity’s most devastating diseases and severe poverty and discrimination – it also portrays what Sabine described as “happy tales set against the dark canvas of our disease.”

At HDdennomore, and as the film recalls, Francis became the first world leader to recognize this horrible disease. And he declared that it should be “hidden no more.” 

Pope Francis with HD families in Rome, May 18, 2017 (photo by #HDdennomore)

Faith, reason, and advocacy

At USD, the primary sponsor of the screening is Frances G. Harpst Center for Catholic Thought and Culture (CCTC). Along with other USD units, the CCTC co-sponsored my trip to Rome for #HDdennomore, and also my public presentation on the event (click here to watch).

USD is a Catholic university where “faith and reason are compatible in education,” and it “welcomes students, faculty and staff of every faith tradition,” according to its statement on Catholic identity. Indeed, since my arrival in 1993, I’ve faced no restrictions on my research on abortion in Brazil, and have taught students from many religious backgrounds.

I have explored the nexus between faith and reason/science in this blog, including the in-depth article “God, Huntington’s disease and the meaning of life.”

After CCTC Director Jeffrey Burns, Ph.D., read my preview of Dancing at the Vatican last July, he e-mailed me to ask whether we could bring the film to USD. Sabine readily agreed to the idea; he’ll introduce the film and take questions afterwards.

Ignacio Muñoz-Sanjuán, Ph.D., a leading neuroscientist seeking HD treatments at the Los Angeles office of the nonprofit CHDI Foundation, Inc., also will speak. Dr. Muñoz helped organize #HDdennomore. He co-founded Factor-H, which aids Latin America’s poor HD-affected families. Both Sabine and Muñoz will also meet with students and faculty interested in their respective professional fields.

We selected the February 19 date because Sabine, based in London, will join Muñoz and several hundred researchers from around the globe the next week at the CHDI-sponsored 15th Annual HD Therapeutics Conference in nearby Palm Springs, CA. I will also attend.

In planning the screening, I’ve strengthened the bond between advocacy and academic work that USD values and that I began to establish after exiting the terrible and lonely “HD closet” in 2012 (click here to read more).

Dr. Ignacio Muñoz-Sanjuán entering the Vatican with Dilia Oviedo Guillén, a Colombian woman who lost her husband and five children to HD (photo by #HDdennomore)

A free event, with many sponsors

The screening will take place from 6:30-8:30 p.m. in USD’s Manchester Auditorium (located in Manchester Hall) and will be followed by a reception. The event is free and open to the USD community, the local HD and biomedical communities, and the public. Attendees must register at cctc@sandiego.edu or 619-260-7936.

To fund the event, we have secured support from Ionis Pharmaceuticals, Inc., the developer of the gene-silencing drug currently under study in a historic Phase 3 clinical trial by Roche. (Click here for a recent update on the trial.) Ionis is located in Carlsbad, CA, part of the San Diego-area biotech hub, one of the world’s most important. Ionis’ chief scientific officer and HD team leader, Frank Bennett, Ph.D., donated to #HDdennomore.

In addition, Roche’s U.S. subsidiary Genentech will also sponsor the screening. Headquartered in South San Francisco, CA, Genentech also has a facility in Oceanside, just north of San Diego. 

Another local company, Origami Therapeutics, Inc., is supporting the event. It also seeks to develop an HD treatment. It was founded by Beth Hoffman, Ph.D., the former president of the San Diego chapter of the Huntington’s Disease Society of America.

Other USD co-sponsors include the International Center, the Enhanced Student Faculty Interaction Fund, the Humanities Center, the above-mentioned Department of History, the Program in Latin American Studies, and the Department of Communication Studies. The College of Arts and Sciences also has lent its support.

Charles Sabine dancing at the Vatican with #HDdennomore participants (photo by #HDdennomore)

‘All of us standing together’

On January 10, I had a long lunch with George Essig, a well-connected veteran radio ad salesman and former HDSA-San Diego president. Essig’s extended family is affected by HD. As I wrote in a 2014 article, Essig “epitomizes the dedication of the unaffected relative.” (Click here to read more.)

In discussing the screening, we noted that it will be a unique event for the San Diego HD community and its supporters. Over the years, most events – such as galas, marathons, and walks – have focused on raising funds and awareness.

Echoing Sabine, I stressed that this event would be a celebration.

We brainstormed on the meaning of “celebration” for the local HD community – and for the many donors Essig has brought into the cause.

Their support had helped HD “become hidden no more,” he said. 

The screening also will be about “the evolution of the cause,” he added. 

With that in mind, Essig said he would tell supporters that he would be “remiss not to invite you to this celebration.”

The Dancing at the Vatican screening will also celebrate the progress in research, which has advanced thanks to the donors and broad collaboration in the HD community, he noted.

Essig summed it up: the Dancing at the Vatican event will be “all of us standing together and saying: I helped bring a cure to an incurable disease, even if it’s just $10 that I gave.”

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

‘Dancing at the Vatican,’ about Huntington’s families’ remarkable papal audience, premieres July 27

Dancing at the Vatican, a short documentary featuring South American Huntington’s disease-afflicted families’ remarkable 2017 encounter with Pope Francis at the Vatican, will premiere in Los Angeles on July 27.

The 38-minute film captures key moments of those impoverished, disease-stricken families’ extraordinary journey – some had never ventured beyond their home towns; some even lacked birth certificates – to their meeting with the Spanish-speaking Francis, the first Latin American pontiff in the Catholic Church’s 2000-year history.

The documentary is narrated by Emmy-award-winning former NBC-TV foreign correspondent Charles Sabine – like me, an asymptomatic HD gene carrier – and one of the lead organizers of “HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America.”

“In the course of 26 years as a television journalist, living through more than a dozen wars, five revolutions, and four earthquakes, I witnessed many examples of people achieving the seemingly impossible,” Sabine says in introducing the film, which I previewed online July 21. “None, though, was as inspirational as the tale I’m about to tell.”

The film portrays the struggles of HD family members such as Dilia Oviedo Guillén, a Colombian woman who lost her husband and five children to the disease.

Dilia provides 24-hour care to four more adult children. “I have to wash, cook, and feed them,” she says in the film. “You have to do all that for them. They can’t use their hands to eat. They’re my children, so I feel as if I have their illness.”

Dilia has no professional caregivers or physical therapists to assist her. The family is so poor that she had to bury three of her children in a single grave.

In showing the struggles of Dilia’s family and others, Dancing at the Vatican captures the underside of the HD world. Such families deal with one of the humanity’s most devastating diseases and severe poverty, lack of opportunities, poor or non-existent infrastructure, neglect by the government and society, and stigma and discrimination.

However, as Sabine wrote me in an e-mail today, he and the filmmakers also sought to include "happy tales set against the dark canvass of our disease."

“‘Pope meets sick people’ was not a headline the world’s media would care about,” Sabine wrote.  “‘Pope meets sick people with an extraordinary visual backstory,’ was.”

The film follows Dilia’s family and four others as they tour Rome; are received in the Italian Senate by its president and world-renowned HD researcher, Senator for Life, and #HDdennomore organizer Elena Cattaneo; and anticipate the big moment with Pope Francis.

From the Dancing at the Vatican website. Dilia Oviedo Guillén is pictured in the center.

Proceeds benefit Factor-H

The premiere will take place at the SilverScreen Theater, Pacific Design Center, 8687 Melrose Avenue, West Hollywood, CA. Doors open at 5:30 p.m., with a screening of the film at 6 p.m., followed by a Q&A and refreshments. Actress and singer Kate Miner, also from an HD family and a participant in the papal audience, will emcee the evening. Self-parking on the street or at the Center ($10) is available.

Directed at the HD community and the general public, the event and the film seek to raise awareness about HD and, as key HD researcher Ignacio Muñoz-Sanjuan, Ph.D., wrote in an e-mail, “the desperate situation of many HD families in Latin America.”

Sponsored by HD-focused drug developers Ionis Pharmaceuticals, Inc., Genentech, and Wave Life Sciences, admission to the premiere is free. (Click here to register.)

Sabine recorded a one-minute video personally inviting the HD community to participate in this “extraordinary celebration.”

Those who wish can contribute to Factor-H, a nonprofit that seeks to improve the quality of life of poor HD families in Latin America. Founded by Spanish-born neuroscientist Dr. Muñoz-Sanjuan and the Argentine physician Claudia Perandones, both featured in Dancing at the Vatican, Factor-H currently supports families in Chile, Colombia, Peru, and Venezuela. Venezuela’s Lake Maracaibo region has one of the world’s densest clusters of HD families, with many residents donating blood in the scientific quest for the HD gene.

Instrumental in #HDdennomore, Drs. Muñoz-Sanjuan and Perandones saw the papal audience as a way to further Factor-H’s work. The organization seeks to expand assistance to other nations.

Sabine and the filmmakers chose Los Angeles for the world premiere because Southern California is a “‘perfect storm’of the HD community – a collaboration of the best of researchers, advocates, clinicians and support groups,” Sabine wrote. However, he also recalled the “truly international nature of the event and film,” noting that 28 countries were represented at #HDdennomore.

In fact, the film has planned premieres in Washington, D.C., London, Rome, Glasgow (Scotland), and South America. Later it will become available online.

Bringing joy and hope

My wife Regina, daughter Bianca, and Brazilian mother-in-law Lourdes took part in #HDdennomore (click here to read more). 

We watched Pope Francis declare that HD should be “hidden no more.”

“It is not simply a slogan, so much as a commitment that we all must foster,” the pope urged the audience of some 1,500 HD community members from around the world.

The film depicts how, after his speech, Francis greeted and hugged each member of the HD-afflicted South American families, sometimes caressing their heads as they spoke to him and cried.

Watching Dancing at the Vatican took me back to those poignant moments in the papal meeting hall. I teared up, as I did that day. 

As Sabine states in the film, #HDdennomore was “the biggest event in the history of Huntington’s disease.”

Dancing at the Vatican underscores the deep medical and social suffering of HD, which, in South America, is exacerbated by poverty and inequality.

However, as the film also shows, those HD families got a wonderful moment to celebrate, smile, and dance.

Thanks to the organizers of #HDdennomore, Factor-H, and Pope Francis, the terrible burden of HD perhaps feels a bit lighter for all affected families. We can all share in that joy – and the hope offered by Francis – by watching Dancing at the Vatican.

(For background on #HDdennomore and its impact, click here and here. A future article will explore Factor-H in depth.)

‘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)