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FDA Approves Kebilidi, First Gene Therapy for AADC Deficiency

• The FDA has granted accelerated approval to Kebilidi, a gene therapy for treating aromatic L-amino acid decarboxylase (AADC) deficiency, a rare and severe genetic disorder. • Kebilidi, an adeno-associated virus vector-based therapy, delivers the human DDC gene directly into the putamen to enhance dopamine production. • Clinical trials demonstrated that Kebilidi improved gross motor function in eight of twelve patients with severe AADC deficiency after 48 weeks. • This approval marks a significant advancement in treating debilitating genetic disorders, offering a new therapeutic option for patients with limited treatment options.

The FDA has approved Kebilidi, a groundbreaking gene therapy, for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. This marks the first FDA-approved gene therapy for this rare and often fatal genetic disorder, offering new hope for patients and families affected by this condition.
AADC deficiency is characterized by a deficiency in neurotransmitter production, leading to severe delays in motor function, hypotonia, and various physical, cognitive, and behavioral challenges. Patients often experience life-threatening complications, including infections and severe feeding and breathing difficulties.

Mechanism of Action and Clinical Trial Results

Kebilidi is an adeno-associated virus vector-based gene therapy that delivers the human DDC gene directly into the putamen, a region of the brain crucial for regulating movement, speech, and cognitive functions. The therapy aims to increase the AADC enzyme and restore dopamine production, a critical neurotransmitter involved in motor skills, attention, learning, and memory.
The FDA's approval was based on data from a study involving 13 patients with severe AADC deficiency who had no gross motor function. Motor milestone assessments were completed for 12 of the 13 patients 48 weeks after receiving the infusions. Results showed that eight of the twelve patients experienced clinically meaningful improvements in gross motor function compared to untreated patients, who showed no such improvements.

Implications and Future Directions

Dr. Nicole Verdun, director of the Office of Therapeutic Products in the FDA’s Center for Biologics Evaluation and Research (CBER), stated that this approval represents "important progress in the advancement and availability of safe and effective treatments for debilitating genetic disorders."
Dr. Peter Marks, director of the CBER, emphasized the FDA's commitment to making safe and effective treatments available for patients in need, highlighting the clinical advancements in gene therapy for rare diseases.
A confirmatory trial is currently underway to further verify Kebilidi’s clinical benefits and long-term efficacy. This continued research will provide additional insights into the potential of gene therapy for AADC deficiency and other genetic disorders.
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Reference News

[1]
FDA approves first AADC deficiency treatment - Scientist Live
scientistlive.com · Nov 15, 2024

FDA approves Kebilidi, the first gene therapy for AADC deficiency, aiming to restore dopamine production and improve mot...

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