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FDA Approves KEBILIDI, First Brain-Delivered Gene Therapy for AADC Deficiency

• The FDA has approved KEBILIDI (eladocagene exuparvovec-tneq), a gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency, marking the first brain-delivered gene therapy in the U.S. • KEBILIDI, developed by PTC Therapeutics, is a gene replacement therapy administered directly to the brain to restore dopamine production in patients with AADC deficiency. • Clinical trials demonstrated that KEBILIDI initiates de novo synthesis of dopamine, leading to progressive acquisition of motor development milestones in affected children and adults. • AADC deficiency, an ultra-rare genetic disorder, severely impairs motor function, and KEBILIDI offers a new treatment option where none previously existed in the U.S.

PTC Therapeutics' KEBILIDI (eladocagene exuparvovec-tneq) has received FDA approval, making it the first gene therapy approved in the U.S. that is directly administered to the brain. This innovative treatment targets aromatic l-amino acid decarboxylase (AADC) deficiency, an ultra-rare genetic disorder affecting motor function. The approval marks a significant advancement in the treatment of this debilitating condition, offering a new hope for patients where no U.S.-approved treatment previously existed.

Addressing AADC Deficiency

AADC deficiency disrupts the synthesis of dopamine, a critical neurotransmitter for motor function, affecting at most several hundred patients in the U.S. The condition leads to severe disability and suffering from the first months of life, impacting physical, mental, and behavioral aspects. Children with AADC deficiency often experience oculogyric crises, which are distressing episodes resembling seizures. Current management involves ongoing physical, occupational, and speech therapy, as well as interventions to manage life-threatening complications.

Mechanism of Action and Clinical Efficacy

KEBILIDI is a gene replacement therapy administered to the putamen of the brain through a stereotactic neurosurgical procedure. It uses a recombinant adeno-associated virus serotype 2 (rAAV2) to deliver a functioning DDC gene, correcting the underlying genetic defect and restoring dopamine production. Clinical trial results have demonstrated that the treatment initiates de novo synthesis of dopamine, followed by the progressive acquisition of motor development milestones.
The approval was based on safety and clinical efficacy findings from an ongoing global clinical trial (PTC-AADC-GT-002). Confirmatory evidence will be provided through long-term follow-up of treated patients. The FDA also granted a Rare Disease Priority Review Voucher, which PTC Therapeutics plans to monetize.

Administration and Availability

The stereotactic surgical procedure is a minimally invasive neurosurgical approach already used for various neurological disorders. It is performed by qualified neurosurgeons in specialized centers. PTC Therapeutics has identified centers of excellence and trained surgeons to administer the gene therapy, with launch preparations well underway.
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Reference News

[1]
PTC Nets AADC Gene Therapy Approval: First Brain-Delivered Gene Therapy in U.S.
insideprecisionmedicine.com · Nov 14, 2024

PTC Therapeutics' gene therapy for AADC deficiency, KEBILIDI™, is the first FDA-approved treatment directly administered...

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