First therapy to treat rare genetic disorder AADC deficiency

EMA has recommended granting a marketing authorization in the European Union (EU) for Upstaza (eladocagene exuparvovec), a therapy for the treatment of adult and pediatric patients with severe aromatic L-amino acid decarboxylase (AADC) deficiency with a genetically confirmed diagnosis.

Patients with AADC typically experience developmental delays, weak muscle tone and inability to control the movement of the limbs. AADC deficiency is a long-term, debilitating and life-threatening condition because it can lead to multiple organ failures. Patients also experience intellectual disability, show irritability and are at risk of death in the first decade of life.

In its overall assessment of the available data, the Committee for Advanced Therapies (CAT), EMA's expert committee for cell- and gene-based medicines, found that the benefits of Upstaza outweighed the possible risks in patients with AADC deficiency.

The CHMP, EMA’s human medicines committee, agreed with the CAT’s assessment and positive opinion and recommended approval of this medicine under exceptional circumstances. A marketing authorization under exceptional circumstances allows patients access to medicines that cannot be approved using a standard authorization route as comprehensive data cannot be obtained under normal conditions of use, either because there are only very few patients with the disease, the collection of complete information on the efficacy and safety of the medicine would be unethical, or there are gaps in the scientific knowledge. These medicines are subject to specific post-authorization obligations and monitoring.

The opinion adopted by the CHMP is an intermediary step on Upstaza’s path to patient access.

Details available: https://www.ema.europa.eu/en/news/first-therapy-treat-rare-genetic-nervous-system-disorder-aadc-deficiency