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Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
被引:2
作者:
Tizzano, Eduardo F.
[1
]
Quijano-Roy, Susana
[2
]
Servais, Laurent
[3
,4
,5
]
Parsons, A.
Parsons, Julie A.
[6
]
Aharoni, Sharon
[7
,8
]
Lakhotia, Arpita
[9
]
Finkel, Richard S.
[10
]
机构:
[1] Hosp Valle De Hebron, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129,Horta Guinardo, Barcelona 08035, Spain
[2] UVSQ Paris Saclay, Raymond Poincare Univ Hosp, APHP, Garches Neuromuscular Reference Ctr, 104 Bd Raymond Poincare, F-92380 Garches, France
[3] Univ Oxford, MDUK Oxford Neuromuscular Ctr, Dept Paediat, Headly Way,Headington, Oxford OX3 9DU, England
[4] Univ Oxford, NIHR Oxford Biomed Res, Headly Way,Headington, Oxford OX3 9DU, England
[5] Univ & Univ Hosp Liege, Neuromuscular Reference Ctr, Dept Pediat, Bat B35 Dept Sci Clin,Quartier Ave Hop 13, B-4000 Liege, Belgium
[6] Univ Colorado, Childrens Hosp Colorado, Sch Med, 13001 East 17th Pl, Aurora, CO 80045 USA
[7] Inst Pediat Neurol, Schneider Childrens Med Ctr Israel, Kaplan St 14, Petah Tiqwa, Israel
[8] Tel Aviv Univ, Fac Med & Hlth Sci, Tel Aviv, Israel
[9] Univ Louisville, Norton Childrens Med Grp, 411 East Chestnut St, Floor 6, Louisville, KY 40202 USA
[10] St Jude Childrens Res Hosp, Ctr Prote & Metabol, 262 Danny Thomas Pl, Memphis, TN 38105 USA
关键词:
four SMN2 gene copies;
Onasemnogene abeparvovec;
Real-world data;
RESTORE registry;
Spinal muscular atrophy;
Survival motor neuron 2 gene;
NATURAL-HISTORY;
DIAGNOSIS;
SMN2;
MANAGEMENT;
SMA;
D O I:
10.1016/j.ejpn.2024.08.006
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
Objective: We describe outcomes following onasemnogene abeparvovec monotherapy for patients >= four survival motor neuron 2 ( SMN2 ) gene copies in RESTORE, a noninterventional spinal muscular atrophy patient registry. Methods: We evaluated baseline characteristics, motor milestone achievement, post-treatment motor function, use of ventilatory/nutritional support, and adverse events as of December 22, 2022. Results: At data cutoff, 19 patients in RESTORE had >= four SMN2 copies and were treated with onasemnogene abeparvovec monotherapy (n=12 [63.2%] four copies; n=7 [36.8%] >four copies). All patients were identified by newborn screening and were reported as asymptomatic at diagnosis. Median age at onasemnogene parvovec administration was 3.0 months. Median time from treatment to last recorded visit was 15.4 months, with a range of post-treatment follow-up of 0.03-39.4 months. All 12 children who were assessed for development achieved new milestones, including standing alone (n=2) and walking alone (n=5). Five children reported one or more treatment-emergent adverse events (one Grade 3 or greater). No deaths or use of latory/nutritional support were reported. Conclusions: Real-world findings from the RESTORE registry indicate that patients with >= four SMN2 gene treated with onasemnogene abeparvovec monotherapy demonstrated improvements in motor function. Adverse events experienced by these patients were consistent with previously reported findings.
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页码:18 / 24
页数:7
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