The CMT1A Family Prepares a Cure for Their ‘Endgame’ With $1 Million Donation

It was an unexpected million dollar giveaway, even for Kent and Michele Stahl.

Austin Stahl, 28, and his sister Hunter Stahl, 27, pose for a photo while on a ski trip. (Photo courtesy of Hunter Stahl)

The Charcot-Marie-Tooth Research Foundation (CMTRF) was hosting a research convention in September when it announced Endgame, the organization’s latest $10 million campaign to find treatments for CMT1A. The Stahls’ son, Austin, 28, was diagnosed with type 1A of the disease as a teenager.

Hearing about the global collaboration to end Charcot-Marie-Tooth (CMT) disease inspired Michele and Kent Stahl, a retired investor who sits on the board of several public companies, to take action with their portfolio. while watching the virtual event. The family had planned to donate, but the million dollars was a spontaneous decision.

“We typed our donation into the chat box during the forum and it was as much of a surprise to CMTRF as it was to our family,” Michele said. News Charcot-Marie-Tooth. Stahl’s donation was publicly announced in December.

But it’s not just parents who are hoping to find a cure and reinvigorate CMTRF’s goal of funding research that will lead to treatments that don’t yet exist for patients like Austin. It’s a family affair.

Everyone in the family is involved to some degree with this goal. Hunter Stahl, 27, studied biomedical engineering for his undergraduate degree, partly inspired by his brother’s condition, and volunteers for CMTRF. Their parents push for awareness and research. Austin is training and staying active to reduce the progression of the disease and hopes a cure will come soon.

Even though Austin showed symptoms of CMT from the age of 2, he wasn’t diagnosed with the condition until he was 15, when he underwent electromyography – a diagnostic test for the disorders muscles and nerves – and a genetic blood test. Michele recalled being told by a doctor once that some people are just “clumsier” than others.

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This offhand assessment was despite Austin walking on his toes, falling, or lacking the strength to move through the monkey bars. Michele said expensive genetic tests — which cost around $10,000 when Austin was a young boy and now cost around $300 — kept doctors waiting. Diagnosis took so long because awareness of CMT in the medical community was limited. And bringing that awareness isn’t easy, Hunter added.

“We’ve even seen over the past 10 years that there’s been ten times more attention on rare diseases than before, but a lot of it is just raising awareness and that’s a challenge,” he said. Hunter.

CMTRF and the Stahls

Susan Ruediger, co-founder and head of mission of CMTRF, which obtained 501(c)(3) nonprofit status in 2018, was the second person Michele met other than her son with CMT. . Ruediger shares the same type of CMT as Austin.

She said CMT News that on her first visit to the Stahls’ home in Asheville, North Carolina, Michele would immediately ask questions about CMT, such as Ruediger’s use of leg splints.

Susan Ruediger co-founded the CMT Research Foundation with Patrick Livney in 2018. (Photo courtesy of Susan Ruediger)

“She saw the fact that I was married, that I had a job and that I had children and that I was productive,” said Ruediger, 50, former director of development for the association CMT ( CMTA). “And I think in a way it gave [Michele] hope for the future for people with CMT, because when you have no context about what is going to happen, it can be really daunting.

Learning about the adult perspective and getting to know Ruediger led the Stahls to be early proponents of the CMTRF’s goal of finding a cure for the disease named after the three physicians who first described it in 1886. .

The family gave $25,000 to help start the organization and another $300,000 which was matched by other donors. This amount was then used to finance various CMT1A projects with the CMTRF.

One such project was developed by DTx Pharma, which the CMTRF supported with $127,000 in 2019. DTx Pharma uses long-chain fatty acids to deliver silencing RNA therapies to cells affected by disease. This includes silence PMP22 gene activity, which controls the production of peripheral myelin protein 22. Duplication of this gene leads to CMT1A.

DTx Pharma completed $100 million in Series B funding in March 2021 and expects to initiate clinical trials for CMT1A in 2023.

The Stahls’ initial support helped revive DTx Pharma and secure even more funding, Kent said. The hope is that companies like DTx will start to succeed and that the biggest pharmaceutical companies will take notice, adding CMT treatments to their drug development pipelines.

That’s part of the reason the Stahls earmarked $1 million for Endgame.

The science has been there for a while, Stahl said, but lacked the funding that would have accelerated it to clinical trials and the pharmaceutical market.

He cited the example of Scott Harper, PhD, principal investigator at the Abigail Wexner Research Institute Center for Gene Therapy at Nationwide Children’s Hospital and professor of pediatrics at Ohio State University College of Medicine.

The scientist began developing two programs – one on facioscapulohumeral muscular dystrophy (FSHD) and the other on CMT1A – as part of his postdoctoral work in 2006, Harper confirmed to CMT News by email. He received a grant from the Muscular Dystrophy Association (MDA) to continue his work on FSHD, but the NIH grant application he submitted for CMT1A was not funded. Therefore, Harper said, he and his small research team had to make the decision to focus on FSHD rather than CMT1A.

Once he achieved professor status, Harper revisited CMT1A – this time with a small grant from CMTRF. His research partner, Kleopas Kleopa, PhD, at the Cyprus Institute of Neurology and Genetics, Greece, also received funding from CMTRF.

In December, the therapeutic on which the two researchers collaborated was licensed by Armatus Bio and renamed ARM-101. It is now in development.

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From his perspective as a parent, Kent Stahl said, “I think we could have had a cure 10 years ago if there had been funding. This is the challenge, and I hope we meet it with these [CMTRF] projects.”

While the Stahls focus on CMT1A because of their son, the CMTRF as a whole seeks to fund research that affects all types of the disease, including CMT1X, CMT4B1, and CMT2E. CMT1A is the most common type and, therefore, the most attractive for pharmaceutical companies to target, according to Ruediger. CMT1 accounts for about two-thirds of CMT patients, and CMT1A accounts for 70% to 80% in this subtype, according to the MDA.

“It’s one of our many goals, but it’s a gateway to tackle all the other issues,” Ruediger said of the CMT1A initiative, adding that the goal of the he organization of obtaining treatments in the peripheral nervous system is shared with all types of CMT.

A goal for future generations

After hearing about CMTRF from her parents, Hunter, the Stahls’ youngest child, connected with Ruediger to see how she could help.

Hunter helped CMTRF create the Council of Young Professionals, realizing there was untapped talent among those his age touched by CMT. Ruediger and Hunter identified 10 young people – with and without CMT – to advance awareness and drug development. The group focuses on initiatives such as identifying micro-influencers to run social media campaigns, finding foundation partners, and identifying potential donors.

Austin Stahl is skiing.

A graduate of Bucknell University, Pennsylvania, Hunter earned her undergraduate degree in biomedical engineering. She is now completing her master’s degree at the Sloan School of Management at the Massachusetts Institute of Technology. Michele said Austin’s diagnosis was part of Hunter’s drive to commit to healthcare.

For his part, Austin keeps abreast of new scientific developments with the help of his younger sister and parents, but mainly focuses on personal development in his career as a regional manager at a financial technology solutions company. Austin lives independently in Denver.

Austin is also linked to his health. Since being diagnosed, he has kept a strict exercise routine and tries to stay active as much as he can by skiing – which is unaffected by his CMT-related foot deformities – in hiking and biking.

“I’ve always found it quite difficult to dedicate more mental time to CMT just because it’s such a big factor in my day-to-day personal life,” Austin said. “That’s where my family came in in a much larger sense.”

The initial diagnosis of CMT 13 years ago was difficult for him to overcome mentally. He felt like the world was unfair and asked the question “Why me?” Since then, he has overcome this obstacle with a positive thought.

“At the end of the day, you either get sucked into that darkness associated with it, or you find a way to mentally justify it and say, ‘You know what, it doesn’t matter that it’s just me, the only thing what I can do is work and do better,” Austin said, adding that today he had more hope.

The path to follow

CMTRF hopes to raise $10 million within three years to help move CMT1A research into clinical trials and patients. In March, with additional donations, the organization is nearly halfway to its goal with $4.6 million raised, according to George Simpson, director of communications at CMTRF.

Other companies are also pursuing treatments for CMT. Pharnext is currently recruiting up to 350 patients for a Phase 3 clinical trial (NCT04762758). PXT3003, which was shown to be effective in relieving disability in a previous trial, is an experimental twice-daily oral solution composed of baclofen, naltrexone and sorbitol. It limits the activity of the PMP22 protein.

“Now when neurologists identify the next Austin, it’s like you have this, but there’s a lot going on,” Kent Stahl said. “And I’d be shocked if there isn’t a cure for you in the next decade.”

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