Abstract Details

Title Safety and Improved Efficacy Outcomes in Children AADC Deficiency Treated with Eladocagene Exuparvovec Gene Therapy: Results From Three Clinical Trials

Topic Child Neurology and Developmental Neurology

Presentation(s) S27 - Child Neurology and Developmental Neurology: Neurogenetics: Translating Knowledge to Therapy (2:24 PM-2:36 PM)

Poster/Presentation
Number 008

Objective

To evaluate clinical outcomes in children with aromatic l-amino acid decarboxylase (AADC) deficiency treated with eladocagene exuparvovec, a recombinant adeno-associated virus vector containing the human cDNA encoding the AADC enzyme.

Background AADC deficiency, a rare genetic disorder of neurotransmitter synthesis, is characterized by motor developmental deficits and clinical features associated with the autonomic nervous system, including dyskinesia, oculogyric crisis, and feeding/swallowing problems.

Design/Methods In 3 open-label clinical studies, children with AADC deficiency who had no full head control and no ability to sit, stand, or walk received eladocagene exuparvovec as bilateral, intraputaminal, stereotactic infusions during a single operative session (total dose, 1.8x10¹¹ vg). Body weight, oculogyric crisis episodes, and adverse events (AEs) were recorded.

Results In the 3 studies, patients aged 21 months to 8.5 years (N=26) received eladocagene exuparvovec, constituting the safety population. In the intent-to-treat population (N=21), mean body weight at baseline was 12.0 kg (median 10.5 kg) and increased to 15.2 kg (median 13.2 kg) at 12 months posttreatment. Frequency of oculogyric crises was improved at 12 months posttreatment. Dyskinesia was recorded as an AE in 23 patients in the safety population; most events were mild or moderate, occurred within 3 months after eladocagene exuparvovec treatment, generally responded to standard pharmacotherapy, and resolved in all patients by 10 months

Conclusions In children with AADC deficiency who received eladocagene exuparvovec gene therapy, body weight increased and oculogyric crises and dyskinesia improved.

Authors/Disclosures
Anne Marie Conway, RN, MHA (Agilis Biotherapeutics, Inc.) PRESENTER	No disclosure on file
	No disclosure on file
Yin-Hsiu Chien	Yin-Hsiu Chien has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi Genzyme. Yin-Hsiu Chien has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Yin-Hsiu Chien has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Yin-Hsiu Chien has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Yin-Hsiu Chien has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Yin-Hsiu Chien has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sanofi Genzyme. Yin-Hsiu Chien has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Avexis/Norvatis. Yin-Hsiu Chien has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen. The institution of Yin-Hsiu Chien has received research support from Sanofi Genzyme.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Mark Pykett	Mark Pykett has received personal compensation for serving as an employee of PTC Therapeutics. Mark Pykett has received personal compensation in the range of $500,000-$999,999 for serving as an officer or member of the Board of Directors for PTC Therapeutics. Mark Pykett has received stock or an ownership interest from PTC Therapeutics. Mark Pykett has received personal compensation in the range of $10,000-$49,999 for serving as a Observer with Pharming Group.

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