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FDA Approves PTC Therapeutics' Kebilidi, First Gene Therapy for AADC Deficiency

• The FDA has granted accelerated approval to PTC Therapeutics' Kebilidi (eladocagene exuparvovec-tneq) for treating AADC deficiency in patients aged 18 months and older. • Kebilidi is the first gene therapy administered directly to the brain to be approved in the United States for this rare genetic disorder. • Clinical trials demonstrated significant improvements in motor function, including head control, sitting unassisted, and standing, compared to natural history data. • The therapy has also shown benefits in improving body weight and reducing the frequency of respiratory infections in AADC deficiency patients.

The FDA has granted accelerated approval to PTC Therapeutics' gene therapy, eladocagene exuparvovec-tneq, now marketed as Kebilidi, for the treatment of patients aged 18 months and older with aromatic L-amino acid decarboxylase (AADC) deficiency. This marks the first gene therapy approved in the United States that is directly administered to the brain.
AADC deficiency is a rare, fatal genetic disorder that manifests in early infancy, leading to severe disability, reduced muscle tone, movement disorders, and autonomic nervous system dysfunction. PTC Therapeutics is preparing for the launch, with designated centers of excellence and trained surgeons ready to administer the therapy.

Clinical Efficacy

The approval is supported by data from multiple clinical trials and compassionate use programs. A 2021 analysis of three clinical trials involving 28 children with AADC deficiency showed significant improvements in motor milestones compared to the natural history of the disease. Patients were treated with total doses of either 1.8 x 10^11 vg (n = 21) or 2.4 x 10^11 vg (n = 7).
Within 12 months of treatment, 44% of patients achieved head control, and 20% could sit unassisted. At 24 months, these numbers increased to 64% and 50%, respectively. By 60 months, 75% achieved head control, 67% could sit unassisted, 25% could stand without support, and 8% could walk with support. In contrast, only 4% of individuals in the Natural History Database (n = 49) achieved similar milestones (P < .0001).

Additional Benefits

A post-hoc analysis from May 2022 indicated that eladocagene exuparvovec improved body weight and reduced respiratory infections. At baseline, 83.3% of patients had body weight in the bottom third percentile. After 12 months of treatment, 95.9% maintained or gained weight relative to age- and gender-matched children without AADC deficiency. The annual rate of upper respiratory tract infections and pneumonia decreased from 2.41 at 1 year to 0.31 at 5 years post-treatment.

Company Leadership Quote

"PTC has once again pioneered a new approach to treating highly morbid neurologic diseases," said Matthew B. Klein, MD, chief executive officer at PTC Therapeutics. "I am proud of our team's unwavering commitment to achieve this important regulatory milestone. We look forward to bringing this transformational gene therapy to children and adults with AADC deficiency in the United States."

Prior European Approval

Eladocagene exuparvovec received marketing authorization in the European Union in July 2022, where it is marketed as Upstaza. This approval made it the first disease-modifying therapy for AADC deficiency, applicable across all 27 EU member states, Iceland, Norway, and Liechtenstein.
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Reference News

[1]
FDA Grants Accelerated Approval to PTC Therapeutics' Gene Therapy for AADC Deficiency
neurologylive.com · Nov 13, 2024

FDA grants accelerated approval to PTC Therapeutics' gene therapy eladocagene exuparvovec-tneq (Kebilidi) for AADC defic...

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