FDA Under Scrutiny for Inconsistent Rare Disease Drug Approvals

The U.S. Food and Drug Administration (FDA) is facing renewed criticism for its seemingly contradictory approaches to approving treatments for rare diseases, as highlighted by a recent Wall Street Journal opinion piece. The agency has agreed to reconsider its rejection of a drug for Barth syndrome while simultaneously scuttling a medicine for Friedreich’s ataxia, citing what critics describe as "strange reasoning." This dual stance has raised concerns about the FDA's consistency and its impact on patient access to vital therapies.

Stealth BioTherapeutics' drug, elamipretide (also known as bendavia), for Barth syndrome, a severe genetic disorder primarily affecting boys and causing heart, muscle, and immune system weakening, is now under reconsideration. The FDA had previously rejected the drug despite an advisory panel recommending its approval, leading to significant financial strain for Stealth BioTherapeutics, which had to reduce its workforce. The agency's decision to re-evaluate comes after public pressure, including the Wall Street Journal's own editorial highlighting the plight of Barth syndrome patients.

Conversely, the FDA rejected PTC Therapeutics' drug, omaveloxolone (brand name Skyclarys), for Friedreich’s ataxia, a progressive neurodegenerative disorder affecting approximately 5,000 Americans. The rejection was based on the drug's failure to show statistically significant benefits on all secondary endpoints in its placebo-controlled trial, despite demonstrating improvement in the primary metric of upright stability. Critics argue that the FDA's insistence on a new, lengthy trial ignores the dire prognosis for patients, many of whom are children who could lose the ability to walk or die while awaiting further studies.

The FDA's actions underscore the challenges in developing and approving treatments for rare diseases, where small patient populations make traditional large-scale clinical trials difficult. Patient advocacy groups and pharmaceutical companies often push for more flexibility in regulatory pathways, emphasizing the urgent need for any effective treatment. This latest controversy reignites debates about the balance between rigorous scientific standards and compassionate access for debilitating conditions.

Commissioner Marty Makary has expressed a desire to streamline rare disease drug reviews, yet the agency's recent decisions present a mixed message. The contrasting outcomes for Barth syndrome and Friedreich's ataxia treatments highlight a perceived inconsistency within the FDA, prompting calls for greater transparency and a more adaptable approach to evaluating therapies for the most vulnerable patient populations. The final decision on elamipretide is expected by September 26, 2025.