MedPath

Infant Thriving After Gene Therapy for AADC Deficiency Following FDA Approval of KEBILIDI™

• Sriansh Ojha, diagnosed with AADC deficiency, received gene therapy at 16 months and now shows significant improvement in motor skills and overall development. • The gene therapy, KEBILIDI™, developed by PTC Therapeutics, has been approved by the FDA, marking the first direct-to-brain gene therapy in the United States. • The therapy involves delivering a functional DDC gene via modified virus to restore dopamine production, crucial for nerve cell communication. • Early diagnosis through blood spot testing and prompt treatment are emphasized to maximize the benefits of gene therapy for AADC deficiency.

Cincinnati Children’s Hospital reports remarkable success in treating a young patient with Aromatic l-amino acid decarboxylase (AADC) deficiency using gene therapy. Sriansh Ojha, who at 16 months became the youngest recipient of the therapy, is now thriving, demonstrating motor skills previously unattainable due to his condition.

FDA Approves KEBILIDI™ for AADC Deficiency

The U.S. Food and Drug Administration (FDA) approved KEBILIDI™, a gene therapy developed by PTC Therapeutics, on November 13, 2024. This marks the first gene therapy approved in the United States that is directly administered to the brain. The therapy aims to correct the underlying genetic defect in AADC deficiency, a rare inherited disorder affecting neurotransmitter production.

How KEBILIDI™ Works

AADC deficiency results from mutations in the DDC gene, leading to a deficiency in the AADC enzyme necessary for producing dopamine and serotonin. KEBILIDI™ delivers a functional copy of the DDC gene to the putamen, a brain region crucial for motor control and cognitive function, using an adeno-associated virus (AAV9) vector. This enables the brain cells to produce the missing enzyme, restoring neurotransmitter production.

Clinical Trial Results and Impact

Sriansh Ojha participated in a clinical trial that supported the FDA approval. Before the gene therapy, Sriansh exhibited severe symptoms, including muscle weakness, inability to lift his head, and uncontrolled eye movements. Following the therapy, he has shown remarkable improvement, now able to sit up on his own and move more freely.
According to Donald Gilbert, MD, MS, a movement disorder expert at Cincinnati Children’s, the early intervention contributed to Sriansh's positive outcome. Adjustments to the surgical procedure were made to accommodate Sriansh's young age, including modifications to the apparatus, burr hole size and location, and anesthesia protocol, as detailed by Sudhakar Vadivelu, DO.

The Future of AADC Deficiency Treatment

The approval of KEBILIDI™ represents a significant advancement in treating AADC deficiency. Early diagnosis is now possible through blood spot testing, similar to screening for other genetic conditions like PKU. This allows for prompt intervention and potentially better outcomes for affected children. The success also suggests the possibility of gene therapy for other genetic brain disorders.
Long-term follow-up will continue to assess Sriansh's developmental progress, focusing on motor and cognitive functions. His progress to date indicates significant gains, with developmental milestones advancing several months in a matter of weeks.
Subscribe Icon

Stay Updated with Our Daily Newsletter

Get the latest pharmaceutical insights, research highlights, and industry updates delivered to your inbox every day.

Related Topics

FDA Approves Kebilidi, First Gene Therapy Directly Administered to the Brain, for AADC Deficiency

The FDA has granted accelerated approval to Kebilidi (eladocagene exuparvovec-tneq) for treating AADC deficiency in both children and adults, addressing the full spectrum of disease severity.
Kebilidi is the first gene therapy approved in the U.S. that is directly administered to the brain, offering a novel approach to treating this rare neurological disorder.

FDA Approves Kebilidi, First Gene Therapy for AADC Deficiency

The FDA has granted accelerated approval to Kebilidi (eladocagene exuparvovec-tneq) for treating Aromatic L-Amino Acid Decarboxylase (AADC) deficiency in adults and children.
Kebilidi, an adeno-associated virus vector-based gene therapy, is the first FDA-approved treatment of its kind for this rare genetic disorder affecting neurotransmitter production.

FDA Approves First Gene Therapy Directly Administered to the Brain for AADC Deficiency

The FDA granted accelerated approval to KEBILIDI™, a gene therapy for AADC deficiency, marking the first such therapy directly administered to the brain.
KEBILIDI™ delivers a healthy copy of the DDC gene via a modified virus, restoring dopamine production in patients with AADC deficiency.

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

The FDA has approved Kebilidi (eladocagene exuparvovec-tneq), a gene therapy for AADC deficiency, marking the first brain-delivered gene therapy approved in the U.S.
Kebilidi is administered directly into the brain and replaces the mutated DDC gene with a functional version, restoring dopamine and serotonin production in both adults and children.

FDA Approves PTC Therapeutics' Kebilidi, First Gene Therapy Dosed Directly into the Brain

The FDA has approved Kebilidi (eladocagene exuparvovec), a gene therapy by PTC Therapeutics, for aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder.
Kebilidi is the first gene therapy approved in the U.S. that involves direct administration into the brain, offering a novel approach to treating AADC deficiency.

FDA Approves Kebilidi, First Gene Therapy Directly Administered to the Brain for AADC Deficiency

The FDA has granted accelerated approval to Kebilidi (eladocagene exuparvovec-tneq), a gene therapy for AADC deficiency, marking the first such treatment approved in the U.S.
Kebilidi delivers a functional copy of the DDC gene to brain cells, restoring the missing AADC enzyme and enabling dopamine production in both children and adults.

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.

FDA Approves Kebilidi, First Gene Therapy Directly Administered to the Brain for AADC Deficiency

The FDA has granted accelerated approval to Kebilidi (eladocagene exuparvovec-tneq), a gene therapy for both children and adults with AADC deficiency, a rare genetic disorder.
Kebilidi, developed by PTC Therapeutics, is the first gene therapy approved in the U.S. that is directly administered to the brain via a stereotactic surgical procedure.

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.

FDA Approves Kebilidi Gene Therapy for AADC Deficiency

The FDA has granted accelerated approval to Kebilidi (eladocagene exuparvovec-tneq) for treating AADC deficiency in both children and adults.
Kebilidi, a gene replacement therapy, is administered directly into the brain to restore dopamine production, addressing the underlying genetic defect.

Reference News

[1]
Child Thriving After Becoming World's Youngest to Receive Gene Therapy for AADC Deficiency
biospace.com · Nov 17, 2024

Sriansh Ojha, born with AADC deficiency, received the world's youngest gene therapy at 16 months, leading to FDA approva...

© Copyright 2025. All Rights Reserved by MedPath
HomeTerms & ConditionsPrivacy Policy