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• W4367302885 abstract "<h3>Objective:</h3> To describe twin girls with spinal muscular atrophy (SMA) with1 copy of <i>SMN2</i> who received Onsasemnogene-abeparvove at 33 weeks’ gestation. <h3>Background:</h3> SMA is a neurodegenerative disorder caused by absence of <i>SMN1</i> resulting in loss of motor neurons and thus progressive muscle weakness and atrophy. <i>SMN2</i> copy number modifies phenotype. Patients with 1 <i>SMN2</i> copy have a severe form of the disease resulting in limited survival after birth. Pre-clinical and clinical data has shown that early treatment of SMA is critical for optimal outcomes. Onsasemnogene-abeparvove, an adeno-associated virus vector mediated gene therapy, is approved for treatment of SMA in children less than 2 years of age, but few cases have reported its impact in premature infants. <h3>Design/Methods:</h3> Exempt from consent by IRB review. <h3>Results:</h3> Twin monochorionic, monoamniotic girls were born at 30 weeks and 2 days gestation. SMA was suggested on newborn screen and confirmatory testing showed 0 copies of <i>SMN1</i> and 1 copy of <i>SMN2.</i> They received Onsasemnogene-abeparvove at 33 weeks’ gestation. Neither child had adverse events associated with the medication. Both girls sat without support and rolled over at 8 months (6 months corrected age), crawled, pulled to stand, and said one-word phrases at 12 months, and walked independently at 15 months of age. Neurological exam at 19 months of age showed normal muscle bulk, tone and strength and normal reflexes. <h3>Conclusions:</h3> This case report is important because it demonstrates the potential for excellent outcomes, even in children predicted to have extremely severe disease. Normally, SMN protein level falls during the last trimester and first few months after birth (Ramos, et al, 2019). These twins were treated at the beginning of the last trimester of pregnancy, very early in this proposed critical window for treatment, likely contributing to normal development. <b>Disclosure:</b> Ms. Ajjarapu has nothing to disclose. Ms. Ramachandra has nothing to disclose. Dr. Mathews has received personal compensation for serving as an employee of Avidity Bioscience. The institution of Dr. Mathews has received research support from NIH. The institution of Dr. Mathews has received research support from Centers for Disease Control and Prevention. The institution of Dr. Mathews has received research support from Muscular Dystrophy Association . The institution of Dr. Mathews has received research support from Friedreich’s Ataxia Research Alliance . The institution of Dr. Mathews has received research support from Sarepta . The institution of Dr. Mathews has received research support from Pfizer. The institution of Dr. Mathews has received research support from Reata . The institution of Dr. Mathews has received research support from PTC Therapeutics, Inc. The institution of Dr. Mathews has received research support from Italfarmaco . The institution of Dr. Mathews has received research support from AMO. The institution of Dr. Mathews has received research support from FibroGen. The institution of Dr. Mathews has received research support from Capricor. The institution of Dr. Mathews has received research support from edgewise. The institution of Dr. Mathews has received research support from biogen." @default.
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• W4367302885 date "2023-04-25" @default.
• W4367302885 modified "2023-10-14" @default.
• W4367302885 title "The Use of Onasemnogene-abeparvovec at 33 weeks’ gestation in Spinal Muscular Atrophy with One Copy of SMN2 (P2-8.013)" @default.
• W4367302885 doi "https://doi.org/10.1212/wnl.0000000000203032" @default.
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