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A family battling rare disease, a biopharma startup they’re assisting, and an organization seeking congressional support for new rare disease drugs share their journeys in the latest episode of the I am BIO Podcast.
Rare disease is defined as a disease afflicting fewer than 200,000 people in the U.S.
“Rare diseases are just that—rare. Yet, with over 7,000 of them identified in the U.S. alone, the chance of having a rare disease isn’t as uncommon as it might seem. Many of these diseases affect children,” says host Theresa Brady of the Biotechnology Innovation Organization (BIO).
Courtney and Joe Dion join the podcast to discuss how they are fighting limb-girdle muscular dystrophy (LGMD), a degenerative, genetic muscle disorder that afflicts their son and daughter.
“When he was diagnosed, he was nine,” Courtney says of their son, Peter. “Now he’s 11, and stairs are a real challenge. When he falls, now he can’t get up off the ground without help.”
Doctors told the Dions nothing could be done, but that didn’t stop them. They founded the Dion Foundation for Children with Rare Disease to embark on a quest for treatments for their children and others.
One of their first challenges—diagnosis—wasn’t as challenging for the Dions as other families because Courtney is a nurse who was already familiar with muscular dystrophy.
“The diagnostic journey for us, it seemed like forever, but it was actually pretty quick,” says Joe. “It was two months. We have met families that took decades to get diagnosed.”
The Dions credited the work of the Muscular Dystrophy Association and other patient advocacy groups for enabling the free genetic testing that helped with their diagnosis.
“The biggest takeaway from my nursing career is that advocacy piece. As a nurse, you advocate for patients all day long,” Courtney says. “You’re advocating for their best interest, for their wellbeing, and now I’m in my greatest role doing that, advocating for what my children need.”
A potential treatment
One therapy that could help the Dions’ children is currently under development by a French company called Atamyo Therapeutics.
Atamyo CEO Stephane Degove tells the podcast about the drug they are working on and how the Dion Foundation for Children with Rare Disease is helping in the development and approval process.
Atamyo’s therapy, called ATA-200, targets the gene responsible for LGMD. It is a one-time treatment delivered intravenously using a harmless virus known as an adeno-associated virus factor (AAV).
“We insert the gene in another new virus that is specifically designed to have this protein expressed in skeletal muscles and in the heart,” says Degove. “ATA-200 replaces the mutated gene with a functioning gene in the affected muscles.”
The treatment fully restored the muscular function of mice with the genetic mutation causing LGMD. It also shows promise against another condition, cardiomyopathies.
When the Dions heard of Atamyo’s work, they contacted Degove seeking a way to have U.S. patients treated in Europe. It soon became clear that a better solution might be to seek U.S. Food and Drug Administration (FDA) approval and to hold clinical trials in the U.S.
“The Dion Foundation is helping us a lot to facilitate the U.S. expansion, first by providing financial support,” says Degove. “And second, they also are very helpful in connecting us with the U.S. clinical trial center and with whom we will work.”
Why we need to reauthorize the PRV program
The Pediatric Priority Review Voucher (PRV) program promotes rare disease drug development by granting makers of approved rare disease drugs a voucher for priority FDA review of a future drug. The voucher can also be sold to another company so that the firm awarded the voucher can fund research.
While the voucher costs taxpayers nothing, it provides a big incentive for firms developing drugs for rare diseases, says Jamie Sullivan, VP of Policy for the EveryLife Foundation for Rare Diseases.
“It is part of the calculus that companies will consider when deciding whether or not to get into and invest in a new rare pediatric condition,” he says.
The voucher program must be renewed by Congress every few years, and it is set to expire in December if Congress does not act. EveryLife would like to remove uncertainty for drug makers and investors by making the program permanent, Sullivan says.
“For the sake of the Dions and every family facing a rare disease diagnosis, we hope that the PRV program continues,” says podcast host Brady. “Thanks to Jamie and EveryLife Foundation for their ongoing efforts to advance policies that ensure that no disease is too rare to deserve treatment.”
