Rare Community Profiles: For Rare Disease Week, Barth Syndrome Advocates Took to Capitol Hill to Urge the FDA to Review NDA for Elamipretide

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Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

For Rare Disease Week, Barth Syndrome Advocates Took to Capitol Hill to Urge the FDA to Review NDA for Elamipretide

I firmly believe that access to healthcare is a human right. No individual should be denied potentially life-saving treatment just because their condition is rare.

As someone with a rare condition myself, and a writer for Patient Worthy, I took to Capitol Hill during Rare Disease Week (2/26/24 – 2/29/24) to encourage policymakers and congressional leaders to consider advancing legislation that would significantly benefit the rare disease community. During my time on the Hill, I met many other patients and advocacy groups who are similarly committed to creating a more equitable healthcare system (and world!) for people affected by rare diseases.

Amidst the marble halls and bustling corridors of Capitol Hill, the Barth Syndrome Foundation (BSF) led the charge to ensure that patients and families had access to a potential lifeline: an investigational peptide compound called elamipretide—currently the only potential treatment option for Barth syndrome.

The Fight for Fair Elamipretide Review

Barth syndrome is an ultra-rare, life-threatening genetic disease that occurs almost exclusively in males. There are only 140 individuals with Barth syndrome alive in the US today. This disease causes heart and skeletal muscle abnormalities, low white blood cells, and muscle weakness. Approximately 50% of premature deaths due to Barth syndrome occur within the first year of life, and 85% occur before the fifth year of life.

Sally Walker Burger, whose son Walker (35) and grandson Jackson (14) both have Barth syndrome, has seen the devastating effects of Barth syndrome firsthand. She says:

“Walker and Jackson were born 21 years apart and both in heart failure and labeled ‘failure to thrive.’ They both spent much time in intensive care. Weak muscles and chronic extreme fatigue limit their activities. Mild infections can easily turn very serious. The frustration of watching and not being able to fully participate in life has led them to depression and anxiety with a significantly diminished quality of life.”

Barth syndrome
Jackson and Walker. Photo courtesy of Sally Burger

For years, families like Sally’s who are grappling with Barth syndrome have faced a daunting reality: the lack of viable treatment options. But elamipretide has offered a glimmer of hope for this community. In clinical studies, elamipretide showed promise in improving muscle and heart function, as well as exercise tolerance.

Walker, who was diagnosed with Barth syndrome at 19 years old, has participated in a clinical trial for elamipretide over the past five years. Sally can see how the drug has positively impacted her son—and only wishes that her grandson could have the same chance at treatment. She shares:

“Since joining the clinical trial, Walker has increased his energy levels, muscle strength, and endurance. His left ventricle output increased by 40%. He is now able to participate in exercising, working full time, and just enjoying his life. Jackson, who was diagnosed at birth, received a heart transplant at four months old. He’s been doing well since, but it’s clear that he is just tired and doesn’t have the same energy. Jackson cannot participate in the same activities as his peers. He’s not able to play baseball or ride a bicycle because his muscles are simply too weak. I need the FDA to provide a fair review of elamipretide so that Jackson and others in the community who lack access to the drug can receive life-saving and life-changing care.”

Regulatory Struggles

 A clinical study of elamipretide in Barth syndrome showed positive efficacy, safety, and tolerability. Yet in 2021, the U.S. Food and Drug Administration (FDA) declined to even review the New Drug Application (NDA) for elamipretide. Says Sally:

“The FDA would like to see a larger study with more participants to prove the value of elamipretide treatment, and, so far, has refused to review the NDA. This is a huge issue because, as an ultra-rare disease, the number of affected boys is by definition quite small. There’s just too few of them. It is mathematically impossible to achieve the numbers that the FDA would like to have. The FDA needs to use the flexibility that it has been allowed for cases just like this and exercise common sense in certain regulations. These boys are not too rare for the FDA to care about. It is inhumane to have a seemingly well-tolerated and beneficial therapy but not make it available to those who could benefit from it. Everybody in our community wants to see this drug approved and hopefully reach a future where Barth syndrome can be eradicated.”

As time passes by, the Barth syndrome community continues to grapple with deaths of those we love, much too often and much too young. Kate McCurdy, the Barth Syndrome Foundation co-founder, says:

“During the 10 years, 2 clinical trials, and 2 dozen FDA meetings since [Stealth Biotherapeutics began developing elamipretide], over 10% of our global patient population have died as the result of this disease.”

For families like Sally’s, this is not just a matter of policy—it is a matter of life and death. It can be difficult knowing that you are fighting for the health and safety of your loved ones when nobody seems to be listening. Her voice tinged with urgency, Sally shares:

“We’ve been hanging in there. God has been on our team. And I’m an optimist by nature, so I do my best to have hope for the future. But I’ll be honest—if my son lost access to this drug, I don’t know what I would do.”

Sally’s words encapsulate the heart-wrenching dilemma facing countless families impacted by Barth syndrome—and this is exactly why the Barth Syndrome Foundation continues to persist by amplifying their community’s stories and advocating for change. Last fall, the Barth Syndrome Foundation delivered a petition to the FDA with nearly 20,000 signatures requesting FDA action. On the Hill, the advocates worked tirelessly to paint a vivid picture of the daily struggles faced by those living with Barth syndrome—and the need for a therapy that is waiting just out of reach.

The Barth Syndrome Foundation’s advocacy efforts have underscored a broader truth: in a landscape often dominated by larger or more prevalent health concerns, rare diseases can languish in obscurity. Yet we must move forward knowing that every voice matters and every story holds the power to effect change.

Want to make a change? Consider asking the FDA to review elamipretide.

About the Barth Syndrome Foundation

The Barth Syndrome Foundation is the only global patient advocacy organization dedicated to saving lives through education, advances in treatments , and finding a cure for Barth syndrome. Since 2000, the Barth Syndrome Foundation has been working together to identify a cure for this multisystem disorder. The Foundation strives to accelerate progress through collaboration between families and scientists. As the Foundation encourages family participation in research, the BSF provides several ways to remain up-to-date about scientific and medical advances. You can find the Barth Syndrome Foundation on Facebook, X (formerly Twitter), LinkedIn, and Instagram.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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