FDA’s Refusal to Review Rare Disease Treatment Denies Patients’ Right to Try

This opinion piece was provided by Kevin Woodward of Phoenix, Maryland. Kevin is a member of the Barth Syndrome Foundation board of directors.

The role of the U.S. Food and Drug Administration (FDA) is to weigh the potential risks of investigational medicines against their potential benefits. Yet for a promising investigational medicine that could treat my son’s life-threatening ultra-rare disease, Barth syndrome, the FDA has refused to even look at the data. The data, studied over eight years and two clinical trials, show minimal likelihood of risk and potentially life-changing benefits for people living with a disease that has no treatment options. By declining to review this medicine, the FDA is shirking its responsibilities and denying patients like my son their right to try the only treatment that could enable them to live long, full, healthy lives.

My 13-year-old son, Connor, lives every day with the knowledge that he has a deadly disease with no cure. In addition to shortening his life expectancy, this disease also reduces his quality of life and sets him uncomfortably apart from his peers. Because of his extreme weakness and fatigue, he is not able to do “normal” teenage activities such as riding a bike, participating in gym class, even opening a can of Coke or a bag of chips. His immune system does not produce enough white blood cells, so he cannot easily ward off bacterial infections and he misses about 15 days of school per year for doctors’ visits and illness. He lives with a permanent feeding tube that goes directly into his stomach. He also has heart disease, and takes a number of daily cardiac medications, brings a portable AED with him everywhere, and is weighed down by the constant threat of a severe cardiac episode. He is very small compared to his peers, weighing only about 60 pounds.

Barth syndrome has affected every part of his life from the day he was born. As a newborn, he could not breathe on his own and spent five weeks in the NICU. He had difficulty eating. He missed all of his physical milestones; he never crawled, and he did not walk until he was almost three years old.

Unless there is a significant advance in medical care, Barth syndrome will continue to affect all of his future milestones as well. For example, we anticipate physical, social, and psychological challenges with his transition to high school. The school building is large and has multiple flights of stairs that could impede his ability to get from one class to another on time, especially while carrying a heavy book bag. His noticeable physical differences and abilities can make it difficult for him to fit in with his peers. The gravity of his situation is taking its toll on his mental health as well.

Because Barth syndrome is so rare, only affecting about 150 people in the United States, we never expected to see a potential treatment for Connor’s disease. We were surprised and thrilled when a clinical trial for an investigational medicine, elamipretide, began. We would have done almost anything for Connor to be able to participate, but unfortunately, he did not qualify for the study due to his age and small size. But we remained hopeful that the treatment would be approved, and the progression of his Barth syndrome would be curbed – particularly as we saw others in the Barth community improve while in the study.

Yet in 2021, the FDA unexpectedly declined to even review the data for elamipretide. They made this decision despite fervent advocacy from the Barth syndrome community for a fair and appropriate review.

Our community has continued to advocate, including by delivering a petition to the FDA signed by nearly 20,000 people from all 50 states. If the FDA does not correct their errors soon, patients like my son will never have the opportunity to try the only potential treatment that could change their lives.

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