“The FDA must now ensure that its commitment to safety and efficacy is balanced with the urgency of patient need and the relentless progression of serious rare diseases. Action is needed now — before more life-saving therapies, and the patients who need them, fall through the cracks,” states Foundation Chief Science Officer & Co-Founder Cara O’Neill, MD, FAAP, in an op-ed published today in The Hill, one of the most-influential and read publications among lawmakers and policymakers in D.C.
O’Neill points out that the first few months of 2025 were filled with hope for the rare disease community, but that it has been dimmed by FDA’s recent Complete Response Letters blocking approval of drugs for patients with terminal diseases, even when good safety data exists and patients in trials are showing meaningful benefit, such as with Ultragenyx’s gene therapy (UX111).
“Drug development delays affect real families … Helplessly watching this neurological deterioration in your child is devastating. Although the initial mental decline is fast, parents must cope with the progressive loss of their child’s most basic abilities, with ever-increasing demands on their time and energy. Each day without treatment causes more brain injury.”
“As a pediatrician and researcher, I deeply value the FDA’s critical work in ensuring that treatments are safe and effective. However, it is essential that the agency integrate patient perspectives on disease specific risk-benefit profiles into its decision-making throughout the regulatory pathway, especially during consideration of drug approvals.”