Adults with rare diseases are frequently excluded from accessing newly approved treatments despite clinical advancements, according to patient advocates and healthcare analysts. The issue has gained attention following reports of patients being denied therapies approved for pediatric use but not yet authorized for adults.
Hunter syndrome, a rare genetic disorder, exemplifies this challenge. The FDA recently approved avlayah, a breakthrough enzyme replacement therapy, but only for patients under 18. Analysts note that many rare disease trials focus on children due to regulatory incentives and perceived urgency, leaving adult populations in limbo.
‘This isn’t just about Hunter syndrome – it’s systemic,’ said a policy researcher at the National Organization for Rare Disorders, speaking anonymously due to ongoing advocacy work. ‘Adult exclusion happens across multiple conditions from Duchenne muscular dystrophy to certain lysosomal storage disorders.’
Pharmaceutical companies counter that pediatric-first development reflects scientific necessity. ‘Many rare diseases manifest differently in adults versus children, requiring separate clinical trials,’ noted a spokesperson for the Biotechnology Innovation Organization in an email statement.
The FDA’s expanded access program allows for compassionate use exceptions, but physicians report approval delays averaging 4-6 months – often too long for rapidly progressing conditions. Congressional staffers indicate bipartisan legislation may be introduced next session to address the coverage gap.