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.)

In this electoral season, let’s highlight our natural role as caregivers and support care professionals

In the Huntington’s disease community and many others facing debilitating diseases, caregiving is essential.

 

The COVID-19 pandemic has made the need for volunteer caregiving perhaps more apparent than at any time in recent memory. In addition, examples of “heroes” have emerged among care workers such as healthcare professionals, first responders, and other occupations.

 

In this electoral season, no matter what your political persuasion, let’s highlight people’s natural role as caregivers and support the care specialists, many of whom work for very low pay.

 

The bedrock

 

Caring for others forms the bedrock of human relationships. This frequently extends to assisting individuals with health challenges.

 

We come into the world cared for by parents and other adults. Teachers care for us and become key role models as we progress through the school system. If we attend college, professors, peers, counselors, and others provide comprehensive support.

 

Spouses and partners care for and support each other, and if one falls seriously ill, the other helps. The same often happens with siblings.

 

Just as our parents raised us, so do we often look after them in their old age. In the U.S., where extended families once took in parents and relatives, caring for the elderly has increasingly become the responsibility of assisted living facilities and nursing homes. Nevertheless, children often bear the responsibility of finding a safe, good-quality place.

 

Many developing countries (such as Brazil, the country I study) lack assisted living, putting the responsibility squarely onto families.

However, as discussed below, in the U.S. the demand for caregiving is shifting much of the responsibility back into people's homes.

 

Lessons from the Huntington’s community

 

As a Huntington’s advocate and family member, I have learned many lessons about caregiving and seeking professional assistance.

 

My “HD warrior” father Paul Serbin cared for my HD-stricken mother Carol throughout most of the 20-year course of the disease (click here to read more). She also had an in-home care worker assist her with such needs as bathing and styling her hair.

 

Spending the last months of her life in a nursing home, my mother died in 2006 at age 68.

 

Paul Serbin pushing Carol Serbin in wheelchair (photo by Gene Veritas, aka Kenneth P. Serbin)

 

And, as an HD gene carrier “racing against the genetic clock,” I know that the inevitable onset of symptoms could lead me to depend completely on my wife Regina and others for care.

 

(Two nights ago ­– perhaps in anticipation of writing this article – I had a nightmare in which a prominent leader of the HD cause told me that I had chorea, the involuntary, dance-like movements typical of the disorder. The symptoms remained throughout the dream.)

 

I have also witnessed how a mother like Angela Leach tenderly looked after her son Terry, hit with HD in the toddler years. He died at 18.

 

Demand on the rise

 

As I noted in a previous article, volunteer caregiving is a “prominent yet often unheralded human practice.”

 

I’ve also reported on how some HD-afflicted individuals face subpar institutional care, fueled by ignorance and approaching neglect.

 

The demand for both volunteer and professional caregiving will continue to increase as humans generally live longer, and as millions develop neurological disorders such as Alzheimer’s disease and others.

 

One in five is a caregiver

 

In May, the Family Caregiving division of the American Association of Retired People (AARP) and the National Alliance for Caregiving (NAC) issued the extensive report Caregiving in the U.S. 2020.

 

“Today, more than 1 in 5 Americans (21.3 percent) are caregivers, having provided care to an adult or child with special needs at some time in the past 12 months,” the report states. “This totals an estimated 53.0 million adults in the United States, up from the estimated 43.5 million caregivers in 2015.”

 

The report asserts that the number of recipients of care living with caregivers continues to rise.

 

Caregiving is also becoming more complex, because individual care recipients have an increasing number of health conditions, the report states. Caregivers also rely more on household minors for assistance.

 

According to the report, caregiver self-reported health is also declining, because of the added stresses of caregiving.

 

The report observes: “Caregivers who cannot care for themselves may become unavailable to care for others; likewise, caregivers have their own financial, health, and wellness needs, which begs the question, ‘Who will care for the caregivers?’”

 

Financial stress is also common: “In fact, caregivers’ savings are eroding, with 22 percent who used up personal short-term savings and 12 percent who used up long-term savings (for things like retirement or education).”

 

Unpaid caregivers serve as a “core piece” of the health and long-term services and supports formal care systems, “as well as the main source for long-term care for adults living at home and in the community.”

 

Supporting caregiving

 

With the AARP-NAC findings, and as we approach the November 3 election for president and other key offices, we once again should pause to reflect on a crucial question:

 

How can meet the caregiving challenge – including paying professional caregivers more, providing respite for family members, and improving the regulation and overall quality of facilities?

 

The AARP-NAC report informs that 68 percent of caregivers surveyed support an income tax credit for caregiving. A similar percentage want back pay for caregivers for some of their hours worked. More than half favor establishing the right to partially paid leaves of absence from work for caregiving.

 

The party platforms

 

For the upcoming election, the Republican Party did not develop a new platform, simply readopting the 2016 version. It does not mention “caregiving” or “caregivers.”

 

The 2020 Democratic Platform proposes Social Security reform to provide benefits to assist those who forego paid work because they are caregivers. The platform further proposes making it easier for unpaid caregivers to save for retirement.

 

In addition, the Democrats advocate expanding access to home and community-based long-term care services and supports; eliminating waiting lists for home and community-based care; and bolstering Medicaid’s capacity to fund such services. The Democrats support a tax credit for informal and family caregivers and increasing the Child and Dependent Care Tax Credit.

 

“Democrats will also pursue policies to improve nursing home staffing and quality standards, strengthen accreditation processes, and combat corporate abuses in nursing homes,” the platform states. The party also supports a “roadmap to citizenship” for undocumented caregivers.

 

Building a better society

 

The benefits desired by the surveyed caregivers and the Democrats’ policy statements bear serious consideration.

 

In my more than two decades as an HD advocate, I have heard many stories of families whose resources were depleted by caregiving costs, lost work opportunities, and the government requirement that practically all assets be spent before receiving public aid for nursing home care.

 

I believe that highlighting our common role as caregivers can benefit all of us.

 

As a nation, we must embrace caregiving and professional care work as a non-partisan issue. Perhaps in some way this could serve as an antidote to the deep political polarization that afflicts us.

 

At the very least, it can help point us in the direction of building a better society.

What if we could turn off the cause of Huntington’s disease?

What if scientists could simply switch off a mutated gene causing a debilitating neurodegenerative disorder like Huntington’s disease?

Known as gene (or genome) editing, that approach is a current hot research topic, generating hope for sufferers of genetic diseases like HD.

Gene editing will be the focus of a symposium on September 4 sponsored by life science start-up incubator Johnson & Johnson Innovation, JLABS (hereafter simplified as JLABS) and the Janssen Pharmaceutical Companies, the drug-discovery arm of Johnson & Johnson, in San Diego, CA.

At the sponsors’ invitation, I will give a presentation, based on my two decades as an HD advocate, on the health and social challenges faced by HD-affected individuals and their families. The two firms have also invited seven leading scientists and biotech executives to speak at the symposium, titled “Science Alliance: Silencing Neurodegenerative Diseases and Sensory Disorders with Gene Editing.”

HD community members can watch the live webcast of the event for free by registering at the event website and entering the discount code “HDCOMMUNITY” at check out. Attendance in person is $35 for the general public and $20 for students and academics, at the JLABS facility at 3210 Merryfield Row, San Diego.

Recent milestones in gene therapy “have ignited interest” in the field and “especially its application to neurological disorders,” the website states. Gene editing has opened the door to innovation in the treatment of diseases like HD, spinal muscular atrophy, and ALS, according to the organizers.

The website points out that, as the technology progresses, key questions are emerging, such as how to effectively deliver gene editing drugs to the brain.

Owned by Johnson & Johnson, JLABS provides labs, offices, marketing, education, and events for early-stage life-science companies unaffiliated with Johnson & Johnson. In San Diego, one of the world’s leading biotech hubs, it offers services to 60 companies; globally, JLABS serves 580 companies.

The pharmaceutical arm of Johnson & Johnson, the Belgium-based Janssen was acquired in 1961.

Advances in gene editing

Gene editing is different from gene silencing, the technique used in the Phase 3 Roche clinical trial currently in progress in the U.S. and a projected 17 other countries (click here to read more). Roche’s RG6042 is an antisense oligonucleotide, an artificial strand of DNA designed block the production of the huntingtin protein in brain cells.

With gene editing, scientists make changes in the actual DNA – a revolution in biomedical research.

The gene-editing technology currently getting the most attention – one already used in the search for HD treatments – is known as CRISPR. Scientists first observed CRISPR occurring naturally in bacteria in the 1990s. In 2002, scientists discovered additional DNA instructions called “Cas.” The combination CRISPR/Cas actually comprises the bacterial immune system. (Click here to read more.)

“There’s no equivalent of word processing software to edit genes,” then Ph.D. candidate Leora Fox (now a Ph.D.) wrote in HDBuzz in 2017. “To fix genes on a microscopic scale, one cell at a time, the faulty code has to be located and physically cut – and that’s what CRISPR/Cas does.”

To alter a gene, scientists need to insert CRISPR/Cas into the cells.

(Image credit: Ernesto del Aguila III, National Human Genome Research Institute, and Wikimedia Commons)

In a disease like HD, the goal is to use this mechanism to cut directly (that is, shorten) the defective, elongated gene. Researchers are also looking at other ways to deploy gene editing.

In recent years, HD research groups have used this technology to edit the HD gene in the brains of genetically modified “HD mice”. One group developed a technique that led to beneficial effects in mice, including the recovery of older mice that had already developed symptoms. (Click here to read more.)

Chinese researchers have used gene editing in human embryos to fix the mutation behind the blood disease beta-thalassemia, which reduces the amount of red blood cells. However, the embryos were not implanted. 

Gene editing is still far from use in human clinical trials. Among the challenges, scientists need to find ways to effectively deliver such a treatment to the brain and avoid inadvertent editing of other genes. (Click here to read more.)

(Late last year a researcher in China claimed to have used CRISPR to alter the genomes of twin baby girls through in vitro fertilization to enable them to resist potential infection from HIV. The news of this development sparked renewed controversy over the use of biotechnology to intervene in human life.)

The symposium participants

To explore gene editing in neurodegenerative and sensory disorders (difficulties with the five senses), JLABS and Janssen have invited seven researchers and executives to the September 4 symposium, including at least two with experience with CRISPR. They include:

Leah Aluisio, Associate Director, Janssen Research and Development;

Alexis C. Komor, Ph.D., Assistant Professor, Department of Chemistry and Biochemistry, UCSD; 

Young Jik Kwon, Ph.D., Professor, Department of Pharmaceutical Sciences, University of California, Irvine, and co-founder, Responsive Polymers Therapeutics, Inc., and Jupiter Therapeutics, Inc.;

Sanjay Mistry, Ph.D., Head of JLABS @ San Diego, Johnson & Johnson Innovation, JLABS;

Gerry Rodrigues, Associate Vice President, Allergan;

Arthur Suckow, Ph.D., CEO, DTx Pharma; and

Gene Yeo, Ph.D., MBA, Professor, University of California, San Diego, and co-founder, Locana and Eclipse Bioinnovations.

Their bios are available on the event website.

Imagining a cure?

As a speaker, I hope to portray HD’s devastating impact and the urgent need for effective treatment.

In the HD world, scientists avoid the word “cure.” HD is so complex that many have said a cocktail of drugs will be needed to target the multiple problems in the brain and elsewhere in the body.

For the first time, actually switching off or completely removing a mutation might enable us to imagine the way to a cure.

Gene Veritas (aka Kenneth P. Serbin) (photo by Yi Sun, Ph.D.)

‘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.)

Francis made a day of ‘superlatives’ for the Huntington’s disease community, says event co-organizer

Pope Francis created a moment of “superlatives” for the Huntington’s disease community in his historic May 18 meeting with HD-afflicted families, international advocate Charles Sabine said a day later, citing record involvement in the cause, global awareness, and a “poignant” focus on HD’s tough challenges.

A former foreign correspondent for NBC News and presymptomatic carrier of the HD gene, Sabine helped organize “HDdennomore, Pope Francis’s Special Audience with the Huntington’s Disease Community in Solidarity with South America” (click here for background on the event).

Sabine, as did prominent HD scientist and Italian senator-for-life Elena Cattaneo, read an introductory statement preceding Francis’s own speech.

“Your Holiness, today marks a new chapter in the history of humanity’s forgotten families,” Sabine told the pontiff as the audience and web viewers from around the planet listened. “Never before has a world leader recognized the suffering of Huntington’s patients and their carers.”

He described HD as the “harshest affliction known to mankind” and also the “most misunderstood, and until today, the most hidden.” Despite that, Huntington’s has never defeated the human spirit, Sabine asserted. Francis could now affirm that “it is not a sin” to have HD.

Thanking the pope on behalf of the HD community, Sabine praised Francis’s “wisdom” and “compassion, which has shone the light of your church on our disease, at last, so that it be hidden no more.”

In his own stirring speech, Francis elaborated on some of Sabine’s points and declared that HD disease should indeed be “hidden no more!”

Visiting the HD families

The day after, Sabine visited the several dozen HD family members from South America, a main focus of HDdennomore, at their lodgings, the Passionist fathers’ monastery. Located in the historic center of Rome just south of the Colosseum and with a large inner courtyard, the monastery provided the HD families with an idyllic setting for repose and meals. HDdennomore provided transportation to the Vatican and other sites during the week-long stay in Rome.

Charles Sabine (center, white shirt), flanked by HDdennomore co-organizers Ignacio Muñoz-Sanjuan, Ph.D., and Senator Elena Cattaneo, Ph.D., and surrounded by South American HD family members (photo by Gene Veritas, aka Kenneth P. Serbin)

The guests included the juvenile-HD-afflicted 15-year-old Brenda of Buenos Aires, Argentina, the pope’s hometown, and 13-year-old Anyervi, a member of an HD family from Venezuela’s Lake Maracaibo region, the site for decades of critical research in the search for the HD gene led by Nancy Wexler, Ph.D., who attended the event. Both Anyervi and Brenda have been ostracized by other children because of prejudice regarding HD.

Before the pope’s arrival for the audience, Sabine called the two on stage individually. Anyervi received a soccer ball and jersey signed by Brazilian soccer superstar Neymar, who greeted the boy in a short video. Brenda was serenaded in person by Argentine smash-hit singer-songwriter Axel.

Sabine’s reflections

At the monastery, an upbeat Sabine circulated among the families and HD advocates, conversing and joking. He took a break to speak with me about his impressions of the event in its immediate aftermath.

GV: What is your feeling about the meeting with the pope?

CS: It’s mostly a feeling of immense relief that, after a year and a half of planning, on a day when a more than a million things could have gone wrong, nothing major did. That’s my immediate sense.

But I’m so extraordinarily pleased at the words of Pope Francis. That was beyond my control other than the set of notes which I gave him in preparation, which he requested, about the disease. He could not have been more eloquent, poignant, and to the point and focused on the real problems and issues that you and I and everyone else faces with this disease.

And he eloquently and, I believe, truthfully and sincerely made the point that this disease should be – and he used these words – “hidden no more.” And that is something that I could never really have dreamt would happen in my lifetime.

GV: That he’d actually use those words?

CS: Yes. But he did say – and this is important – that it is a great slogan but that it must become more than just a slogan. That’s now what we’ve got to do.

GV: So that’s the question, Charles: what comes next for “HDdennmore” and this whole movement?

CS: Well, I was a little surprised when I read in The Washington Post this morning that the “HDdennomore” event in the Vatican yesterday was the beginning of an initiative. That sounds a little bit daunting. It was the initiative to me! To hear it described as a beginning is both daunting and exciting. Okay, I’ll take that. Let’s call this just the beginning. Where next? Washington? London? We’ll see.

GV: So you’re kind of basking in the joy of this for the time being?

CS: Yeah, I’m just so pleased for all of these families who are standing here in this courtyard of this peaceful Passionisti convent here in Rome with all of these patients. I saw many of these patients a month ago in their homes in Maracaibo. Physically they appear better. They are absolutely flying. They are all smiling, they’re all laughing, they’re all talking.

Okay, they have just had a pretty amazing experience, but it just shows really what can happen. Already we’ve had messages from all over the world of people not only just congratulating us. I’m stunned how many people watched the event. I had no idea that so many people would watch it. I’ve had messages from people who were watching it in the middle of the night on the West Coast. There was one nurse whose family were watching it in the Philippines. People were watching this all over the world.

South American HD families preparing for a group photo at the Passionist fathers' monastery, May 19, 2017 (photo by Gene Veritas)

The reaction has already been intense. We’ve had messages of just not support for the event, but also financial bequests. Anyervi, the little 13-year-old who got the Neymar shirt, he’s already had a wealthy benefactor in Italy who’s asked to sponsor him now for the rest of his life. We’ve had other requests to help.

We had a meeting just yesterday, which followed after our event, with industrialists who are looking into ways in which they can help South American families, in particular in Venezuela, where one of them has land he’s donating now with a view to providing food. There was a clinicians’ meeting after that. They were coming up with ideas for working together to get drugs and medical services into South America. It’s already happening.

Anyervi of Venezuela (photo by Gene Veritas)

GV: Did you have a meeting with a cardinal and/or other people in the Vatican afterwards?

CS: Yes, I wasn’t present at them, but there have also been meetings with cardinals to get across the points that Pope Francis made so eloquently and directly about how this disease has been ignored.

And he admitted it. He was very frank. The pope said and was implicitly admitting that his church had failed. He didn’t want to say it like that, but he said these people have been ignored. He didn’t say these people have been ignored, but not by the Church. He said they’ve been ignored. That means they’ve been ignored by the Church. And that’s a wonderful admission.

What we need to do now is to insure that his words are now made into actions on the ground by the cardinals, the archbishops, and the priests across not just South America but all around the world to make it understood that this should be a disease that no one should feel, as I said in my words there, that it is a sin. I spoke to the pope yesterday. I said thank you for making clear the truth – one of the truths that’s been omitted from this disease for centuries – which is that it’s not a sin to have Huntington’s disease in your family.

GV: The pope mentioned the issue of embryonic stem cells. Do you want to comment on that?

CS: It was a little bit of a shame that he did that. It’s the one thing about that speech that was a little bit disappointing. I don’t think he needed to get into that because it wasn’t particularly relevant to that event.

Unfortunately, many of the newspapers from around the world have taken that as a headline, which is a bit of a shame. [The Pope stated that no scientific research, no matter how “noble” its goal, “can justify the destruction of human embryos.”] Of course, that’s an issue that’s still a stumbling block with the Catholic Church. But I personally don’t think that for one second his mentioning that in his talk should take one iota away from the fact that it was a resounding, total success.

Pope Francis during the HDdennomore special audience (photo by Gene Veritas)

GV: Do we know who wrote the pope’s speech?

CS: I don’t know. I gave him three pages of notes that talked about what we go through, including, in particular, the shame and the stigma. And certainly the themes that were in that I saw in there. I don’t whether he wrote it or if he had others. But they wrote it very, very well.

It was really, I thought, brilliantly working in, as he would naturally, the point of mercy and Jesus. The event yesterday personified yesterday more than any other event exactly that new philosophy of his of putting mercy before doctrine, which is not a popular one amongst many on the right.

But the fact is, there were so many superlatives yesterday. There were 1,700 people there, according to the Associated Press and Reuters. That was by far and away the largest collection of people with regard to Huntington’s disease, by some measure. There were 150 patients – at least – that were there, and probably a lot more. That in itself is another record. There have never been that many people in one room affected by Huntington’s disease. There could have been people in there affected by disease that we didn’t meet.

There were at least 27 countries represented. I don’t know whether that’s a record, but certainly the other two are.

(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.)