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First Brain-Directed Gene Therapy Upstaza Receives EU Recommendation for Rare AADC Deficiency

• PTC Therapeutics' Upstaza has secured CHMP recommendation as the first disease-modifying treatment for AADC deficiency, marking a milestone as the first gene therapy administered directly to the brain.

• Clinical evidence from studies involving 28 children in Taiwan demonstrated sufficient efficacy for the therapy to receive backing under exceptional circumstances for this rare, fatal genetic disorder.

• The approval presents a critical test case for gene therapy commercialization in Europe, where previous treatments like Glybera and Zynteglo have faced significant market challenges.

PTC Therapeutics has achieved a significant breakthrough as their novel gene therapy Upstaza (eladocagene exuparvovec) received recommendation for approval from the European Medicines Agency's CHMP human medicines committee. The therapy represents a pioneering approach as the first gene therapy to be directly administered into the brain, targeting the rare but devastating AADC deficiency.
AADC deficiency manifests in early infancy as a severe genetic disorder that leads to profound disability. Affected children experience a complex array of physical, mental, and behavioral symptoms, including debilitating seizures, with no currently approved treatment options available.
The CHMP's positive opinion was based on clinical data from unblinded studies conducted in Taiwan, involving 28 children aged between 18 months and eight years. The recommendation was granted "under exceptional circumstances," acknowledging both the critical unmet need and the challenges of conducting traditional clinical trials in such a rare disease population.

Commercial Landscape and Market Access Challenges

The approval of Upstaza presents a critical test case for gene therapy commercialization in the European market, where several predecessors have encountered significant challenges. The sector's history includes notable setbacks:
  • uniQure's Glybera, approved a decade ago for lipoprotein lipase deficiency, was withdrawn due to limited demand and efficacy concerns
  • Orchard Therapeutics' Strimvelis for ADA-SCID, while still available, remains confined to a single Italian clinic with insufficient patient numbers to achieve commercial viability
  • Bluebird bio's complete withdrawal from the European market after failing to secure pricing agreements for Zynteglo in Germany
While pricing details for Upstaza have not been disclosed, industry observers anticipate a multi-million euro price point, comparable to other gene therapies such as Novartis's Zolgensma, which commands approximately €2 million per treatment.

Treatment Innovation and Clinical Impact

As the first disease-modifying treatment for AADC deficiency, Upstaza represents a potential paradigm shift in patient care. The therapy's direct administration to the brain demonstrates the advancing capabilities of gene therapy delivery systems and opens new possibilities for treating neurological disorders.
The approval recommendation signals growing regulatory confidence in gene therapy approaches, particularly for severe genetic conditions with limited treatment options. However, PTC Therapeutics will need to navigate the complex European reimbursement landscape carefully to avoid the commercial challenges that have impacted previous gene therapy launches.
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Reference News

[1]
PTC gets green light for gene therapy Upstaza in EU
pharmaphorum.com · Mar 1, 2025
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