FDA Approves Kebilidi for Aromatic L-AAD Deficiency

On Tuesday, November 26, 2024, the U.S. Food and Drug Administration (FDA) granted approval to Kebilidi (eladocagene exuparvovec-tneq) for use in treating both adult and pediatric patients suffering from aromatic L-amino acid decarboxylase (AADC) deficiency. This condition is a rare genetic disorder that impairs the production of certain neurotransmitters.

Kebilidi is a gene therapy that utilizes an adeno-associated virus vector and is notable for being the first gene therapy approved by the FDA for AADC deficiency. The treatment requires administration in a specialized medical center that focuses on pediatric stereotactic neurosurgery. During a single surgical procedure, four infusions of the therapy are delivered to the brain area responsible for motor control.

The FDA's accelerated approval of Kebilidi was based on data from an open-label, single-arm clinical trial involving 13 pediatric patients diagnosed with AADC deficiency. At the beginning of the study, all participating patients exhibited the most severe form of AADC deficiency, characterized by the absence of gross motor function and reduced AADC activity in their plasma. After 48 weeks, results indicated that eight out of the 12 treated patients showed improvements in gross motor function compared to untreated patients observed in the natural history of the disease.

Dr. Peter Marks, M.D., Ph.D., from the FDA Center for Biologics Evaluation and Research, emphasized the significance of this approval, noting that advancements in gene therapy are leading to new and innovative treatments for rare and challenging diseases. The approval of Kebilidi highlights the continuous progress in the field of gene therapy and its potential to provide novel treatment options for patients with rare genetic disorders.

The FDA granted the approval of Kebilidi to PTC Therapeutics, a company dedicated to the development of treatments for rare diseases. This milestone marks a significant step forward in the management of AADC deficiency and offers hope to patients and families affected by this challenging condition.