Nusinersen combined with risdiplam for the treatment of spinal muscular atrophy: a case series of 10 patients and literature review.
10.7499/j.issn.1008-8830.2411114
- Author:
Hao-Lin DUAN
1
;
Ci-Liu ZHANG
1
;
Li-Fen YANG
1
;
Fang HE
1
;
Lei-Lei MAO
1
;
Jing PENG
1
Author Information
1. Children's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.
- Publication Type:English Abstract
- Keywords:
Child;
Combination therapy;
Nusinersen;
Risdiplam;
Spinal muscular atrophy
- MeSH:
Humans;
Oligonucleotides/adverse effects*;
Male;
Female;
Child, Preschool;
Retrospective Studies;
Infant;
Muscular Atrophy, Spinal/drug therapy*;
Drug Therapy, Combination;
Child;
Azo Compounds;
Pyrimidines
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(4):458-464
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVES:To explore the efficacy and adverse reactions of nusinersen combined with risdiplam in the treatment of spinal muscular atrophy (SMA).
METHODS:A retrospective analysis was conducted on the clinical data of 10 pediatric SMA patients treated with nusinersen combined with risdiplam at the Children's Medical Center of Xiangya Hospital, Central South University.
RESULTS:Among the 10 SMA patients, there were 4 with type I, 4 with type II, and 2 with type III. Nine patients initially received nusinersen monotherapy, while 1 patient received nusinersen combined with risdiplam. The median duration of combination therapy with nusinersen and risdiplam for the 10 patients was 10.5 months (range: 0.5-20.0 months), with 6 patients undergoing combination therapy for more than 6 months, showing improvements in motor and/or respiratory function. The remaining 4 patients had combination treatment durations of 0.5, 1.0, 1.3, and 4.0 months, respectively, with no significant overall improvement. After combined treatment, 5 patients experienced skin hyperpigmentation, 2 had lumbar puncture site pain, 1 experienced vomiting, 1 had increased sputum production, and 1 had reduced total sleep time. All adverse reactions were mild and did not require medical intervention.
CONCLUSIONS:Nusinersen combined with risdiplam demonstrates efficacy in the treatment of SMA, and no significant adverse reactions have been observed.
