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Abstract Details

Eladocagene Exuparvovec Gene Therapy Improves Motor Development in Patients With Aromatic L-Amino Acid Decarboxylase Deficiency
Child Neurology and Developmental Neurology
S34 - Child Neurology and Developmental Neurology 2 (1:36 PM-1:48 PM)
004
AADCd results from mutations in the dopa decarboxylase gene leading to reduced AADC enzyme activity; it is characterized by motor impairments and inability to attain developmental milestones. Eladocagene exuparvovec is a recombinant adeno-associated viral vector serotype 2 carrying the coding sequence for human AADC.
Investigate the  efficacy and safety of eladocagene exuparvovec in patients with aromatic l-amino acid decarboxylase  deficiency (AADCd).
Eladocagene exuparvovec was infused bilaterally in the putamina of 30 children with AADC deficiency in 3 studies (AADC-CU/1601 [n=8], AADC-010 [n=10], and AADC-011 [n=12] in patients aged 18–102 months. Data were extracted on January 4, 2022. Patients  receiving a total of 1.8 × 1011 vg (n=21) or 2.4 × 1011 vg (n=9; AADC-011) were followed for up to 120 months and assessed for motor milestone attainment using the Peabody Developmental Motor Scale, 2nd edition (PDMS-2). Specific motor skill items of the PDMS-2 were used to assess  motor milestones including head control (partial or full), sitting (supported or independently), standing (with/away from support; up from cross-legged position), and walking (with/without assistance; 10 feet; taped line) Motor milestones and development were measured every 3 months for 1 year following gene therapy, then every 6–12 months for ≤120 months.
At baseline, no patients  mastered head control or more advanced milestones. At year 1 of follow-up, patients were gaining the following skills (n): partial head control (26); full head control (15), sitting unassisted (7), supported standing (2). Progression of development was noted at years 5 and 10. By year 5, more advanced milestones were achieved (n): full head control (24), sitting unassisted (21) assisted walking (5), walking 10 feet (3), or walking up stairs (3). These abilities were maintained for as long as 10 years

These data indicate eladocagene exuparvovec can provide a durable, positive impact on motor development in patients with AADCd.

Authors/Disclosures
Alexis Russell (PTC Therapeutics)
PRESENTER
Mrs. Russell has received personal compensation for serving as an employee of PTC Therapeutics. Mrs. Russell has stock in PTC Therapeutics.
Agathe Roubertie, PhD,MD (CHU Gui de Chauiac) Prof. ROUBERTIE has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Prof. ROUBERTIE has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for PTC.
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.
Ni-Chung Lee Ni-Chung Lee has nothing to disclose.
Rafael Sierra, PhD (Allergan) Dr. Sierra has received personal compensation for serving as an employee of PTC Therapeutics Inc. Dr. Sierra has stock in PTC Therapeutics Inc.
Jasmine Turna, PhD Dr. Turna has received personal compensation for serving as an employee of PTC Therapeutics. Dr. Turna has stock in PTC Therapeutics.
Antonia Wang, PhD (PTC Therapeutics, Inc.) Dr. Wang has received personal compensation for serving as an employee of PTC Therapeutics. Dr. Wang has received stock or an ownership interest from PTC Therapeutics, Inc..
Chun-Hwei Tai The institution of Chun-Hwei Tai has received research support from National Taiwan University Hospital.
Paul Wuh-Liang Hwu Paul Wuh-Liang Hwu has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC Therapeutics Inc.. Paul Wuh-Liang Hwu has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for PTC therapeutics. The institution of Paul Wuh-Liang Hwu has received research support from PTC therapeutics.