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FDA Approves PTC Therapeutics' Kebilidi, First Direct-to-Brain Gene Therapy

• The FDA has approved PTC Therapeutics' Kebilidi (eladocagene exuparvovec-tneq) for aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder. • Kebilidi is the first gene therapy approved by the FDA that is administered directly into the brain, specifically targeting the putamen region. • Clinical trial data showed that 67% of patients treated with Kebilidi achieved new gross motor milestones within 48 weeks, a significant improvement compared to untreated patients. • The approval, granted under the accelerated pathway, requires PTC Therapeutics to conduct a confirmatory trial to verify Kebilidi's clinical benefits.

The FDA has granted approval to PTC Therapeutics' Kebilidi (eladocagene exuparvovec-tneq) for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. This marks a significant milestone as Kebilidi is the first FDA-approved gene therapy to be administered directly into the brain.
AADC deficiency is an ultra-rare genetic disorder resulting from mutations in the DDC gene, which impairs the production of dopamine and serotonin. This deficiency leads to severe physical, mental, and behavioral symptoms, often beginning in the first months of life. With only about 350 cases documented, the condition is characterized by significant developmental delays and abnormalities.

Mechanism of Action

Kebilidi is a recombinant adeno-associated virus (AAV)-based gene therapy designed to deliver a functional copy of the DDC gene to cells within the putamen, a region of the brain critical for motor function. By restoring the function of the AADC enzyme, the therapy aims to mitigate the debilitating symptoms of the deficiency.
The FDA's approval was based on data from an open-label, single-arm study involving 13 patients with severe AADC deficiency. The primary endpoint focused on gross motor development at 48 weeks. Results indicated that 67% of patients (8 out of 12) achieved a new gross motor milestone, including head control and the ability to sit with or without assistance. In contrast, none of the 43 untreated patients achieved similar milestones by a median age of 7.2 years.

Clinical Impact and Future Directions

"We view the approval of Kebilidi in the U.S. favorably for PTC and think the FDA approval of the first gene therapy that is administered directly to the brain is a positive for the broader gene therapy space, particularly those pursuing similar routes of administration," noted William Blair in a statement.
PTC Therapeutics CEO Matthew Klein stated that the approval represents a pioneering step in treating severe neurological diseases. The company is actively preparing for the U.S. launch of Kebilidi, identifying centers of excellence and surgeons for therapy administration. The approval was granted under the FDA's accelerated pathway, necessitating a confirmatory trial to validate the therapy's clinical benefit for continued market availability.
Kebilidi is approved for both children and adults across the full spectrum of disease severity, a broader label than its approval in the EU and UK, where it is marketed as Upstaza and is indicated for children aged 18 months and older.
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Reference News

[1]
PTC Wins First FDA Nod for Direct-to-Brain Gene Therapy, Targets Ultrarare Disease
biospace.com · Nov 14, 2024

The FDA approved PTC Therapeutics’ gene therapy Kebilidi for aromatic L-amino acid decarboxylase deficiency, marking the...

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