Yale Surgeon-Scientist Secures FDA Orphan Drug Designation for Pembrolizumab in Rare Respiratory Disease

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to pembrolizumab for the treatment of recurrent respiratory papillomatosis (RRP), a rare and debilitating condition caused by the human papillomavirus (HPV). This significant milestone was achieved by Sara Pai, MD, PhD, a Yale School of Medicine (YSM) surgeon-scientist and professor of otolaryngology, who led the effort.

This approval is particularly notable as it represents a rare instance of an investigator directly submitting an orphan drug application to the FDA, rather than the drug's manufacturer. Nita Ahuja, MD, MBA, Chair of the YSM Department of Surgery, emphasized the importance of this achievement, stating, "The move underscores the critical role that surgeon-scientists play in the discovery and delivery of innovative treatments."

The FDA's decision was based on the results of a clinical trial conducted by Dr. Pai at Massachusetts General Hospital (MGH). The trial demonstrated that 52% of RRP patients treated with pembrolizumab, a commonly used immunotherapy drug for cancer, experienced significant clinical benefits. This trial is groundbreaking as it is one of the first to administer pembrolizumab to a non-cancer patient population, showcasing the study's innovation and potentially expanding the drug’s application beyond cancer treatment.

Dr. Pai expressed optimism about the designation, stating, "I am optimistic that the FDA's endorsement will increase patient access to pembrolizumab nationwide, especially considering the significant clinical benefits observed in the trial."

The orphan drug designation is expected to facilitate further research and expanded availability of pembrolizumab, offering new hope for RRP patients across the country. Dr. Pai, recognized internationally as an expert in HPV-associated head and neck cancers and cancer immunotherapy, is leading several clinical immunotherapy trials and has over 120 publications in peer-reviewed journals.