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

• The FDA has approved Kebillidi (eladocagene exuparvovec-tneq) from PTC Therapeutics, a gene therapy for both adult and pediatric patients with aromatic L-amino acid decarboxylase (AADC) deficiency. • Kebillidi's approval is based on a single-arm study demonstrating significant motor milestone gains in a majority of treated pediatric patients compared to untreated individuals. • AADC deficiency is a rare genetic disorder affecting approximately 1-2:1,000,000 live newborns in the US, with a higher prevalence among Asian populations. • Kebillidi received Accelerated Approval, Priority Review, Orphan Drug, and rare pediatric disease designations, highlighting the urgent need for effective treatments for this debilitating condition.

The FDA has granted approval to PTC Therapeutics' Kebillidi (eladocagene exuparvovec-tneq) for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency in adult and pediatric patients. This marks the first gene therapy approved in the United States for this rare genetic disorder. The approval is based on clinical evidence demonstrating significant motor milestone gains in treated patients.
The single-arm study, which included 13 pediatric patients with confirmed AADC deficiency, showed that Kebillidi improved gross motor function in eight out of 12 treated patients after 48 weeks. These improvements were not observed in untreated patients with severe AADC deficiency. All patients enrolled in the study had no gross motor function and decreased AADC activity in the plasma at the study's onset.

Clinical Efficacy and Safety

The clinical trial results indicated a notable improvement in motor skills among the treated patients. According to the FDA, this improvement in motor function represents a significant advancement in the treatment of AADC deficiency, which can cause life-threatening complications. Common adverse events associated with Kebillidi included dyskinesia, fever, low blood pressure, anemia, increased saliva production, insomnia, and electrolyte imbalances. The treatment is contraindicated in patients who have not achieved skull maturity, as assessed by neuroimaging, due to the need for stereotactic neurosurgical administration.

AADC Deficiency: A Rare Genetic Disorder

AADC deficiency is an extremely rare disorder, with only about 350 cases reported in medical literature. It is inherited in an autosomal recessive pattern, meaning both copies of the AADC gene must have a variant to cause the disorder. The prevalence in the United States is estimated at 1-2:1,000,000 live newborns. Nearly half of the reported cases are of Asian descent, with a significant proportion having Taiwanese ancestry. The National Organization for Rare Disorders (NORD) suggests that AADC deficiency is likely underdiagnosed.

Regulatory Designations and Future Outlook

Kebillidi was approved under the Accelerated Approval pathway, with continued authorization contingent on confirmatory trial results. The treatment also received Priority Review, Orphan Drug, and rare pediatric disease designations, underscoring the unmet need for effective therapies for AADC deficiency. "PTC has once again pioneered a new approach to treating highly morbid neurologic diseases," said Matthew B. Klein, MD, CEO, PTC Therapeutics. "We look forward to bringing this transformational gene therapy to children and adults with AADC deficiency in the United States."
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Reference News

[1]
FDA Approves PTC Therapeutics' Kebillidi for Aromatic L-Amino Acid Decarboxylase Deficiency
pharmexec.com · Nov 16, 2024

FDA approves PTC Therapeutics' Kebillidi for AADC deficiency, marking the first gene therapy in the US. Based on a study...

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