scholarly journals Clinical Outcome of Adult Spinal Muscular Atrophy Patients Treated with Nusinersen: A Case Series Review

2020 ◽  
Vol 24 (5) ◽  
Author(s):  
Keng Lam
Keyword(s):  
Clinical Outcome ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Case Series

scholarly journals Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series

Children ◽  
2021 ◽  
Vol 8 (11) ◽  
pp. 1039
Author(s):  
Minsu Gu ◽  
Hyun-Ho Kong
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Daily Living ◽  
Muscular Atrophy ◽  
Case Series ◽  
Manual Dexterity ◽  
Gross Motor ◽  
Spinal Muscular Atrophy Type ◽  
Gross Motor Function

Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity. The present study aimed to investigate the ability of nusinersen to improve fine manual dexterity in patients with SMA type 2. A total of five patients with SMA type 2 were included. The Hammersmith Functional Motor Scale (expanded version) (HFMSE) and Purdue Pegboard (PP) tests were used to evaluate gross motor function and fine manual dexterity, respectively, until 18 months after nusinersen administration. HFMSE scores improved by 3–10 points (+13–53%) in all patients following nusinersen administration. PP scores also improved in all patients, from 4 to 9 points (+80–225%) in the preferred hand and from 3 to 7 points (+60–500%) in the non-preferred hand. These results suggest that nusinersen treatment improved both gross motor function and fine manual dexterity in children with SMA type 2. Addition of the PP test may aid in evaluating the fine manual dexterity essential for activities of daily living in these patients.

scholarly journals Rasch analysis of clinical outcome measures in spinal muscular atrophy

2013 ◽  
Vol 49 (3) ◽  
pp. 422-430 ◽  
Author(s):  
Stefan J. Cano ◽  
Anna Mayhew ◽  
Allan M. Glanzman ◽  
Kristin J. Krosschell ◽  
Kathryn J. Swoboda ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Spinal Muscular Atrophy ◽  
Outcome Measures ◽  
Rasch Analysis ◽  
Muscular Atrophy

scholarly journals A case series of 7 Sri Lankan patients with type 1 spinal muscular atrophy

2016 ◽  
Vol 45 (4) ◽  
pp. 247
Author(s):  
Shree R. Banstola ◽  
Nirmala D. Sirisena ◽  
Dulika S. Sumathipala ◽  
Vajira H.W. Dissanayake
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Case Series ◽  
Sri Lankan

scholarly journals Experiences from treating seven adult 5q spinal muscular atrophy patients with Nusinersen

2020 ◽  
Vol 13 ◽  
pp. 175628642090780 ◽  
Author(s):  
Elisabeth Jochmann ◽  
Robert Steinbach ◽  
Thomas Jochmann ◽  
Ha-Yeun Chung ◽  
Annekathrin Rödiger ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Drug Application ◽  
Case Series ◽  
Intrathecal Administration ◽  
Patient Reported Outcome ◽  
Ct Guided ◽  
Patient Reported ◽  
Severe Spinal Deformities ◽  
Short Time

Background: The antisense oligonucleotide Nusinersen recently became the first approved drug against spinal muscular atrophy (SMA). It was approved for all ages, albeit the clinical trials were conducted exclusively on children. Hence, clinical data on adults being treated with Nusinersen is scarce. In this case series, we report on drug application, organizational demands, and preliminary effects during the first 10 months of treatment with Nusinersen in seven adult patients. Methods: All patients received intrathecal injections with Nusinersen. In cases with severe spinal deformities, we performed computed tomography (CT)-guided applications. We conducted a total of 40 administrations of Nusinersen. We evaluated the patients with motor, pulmonary, and laboratory assessments, and tracked patient-reported outcome. Results: Intrathecal administration of Nusinersen was successful in most patients, even though access to the lumbar intrathecal space in adults with SMA is often challenging. No severe adverse events occurred. Six of the seven patients reported stabilization of motor function or reduction in symptom severity. The changes in the assessed scores did not reach a significant level within this short time period. Conclusions: Treating adult SMA patients with Nusinersen is feasible and most patients consider it beneficial. It demands a complex organizational and interdisciplinary effort. Due to the slowly decreasing motor functions in adult SMA patients, long observation phases for this recently approved treatment are needed to allow conclusions about effectiveness of Nusinersen in adults.

Onasemnogene Abeparvovec-xioi: Gene Therapy for Spinal Muscular Atrophy

2020 ◽  
Vol 54 (10) ◽  
pp. 1001-1009 ◽  
Author(s):  
Debra Stevens ◽  
Melanie K. Claborn ◽  
Brooke L. Gildon ◽  
Tiffany L. Kessler ◽  
Cheri Walker
Keyword(s):  
Gene Therapy ◽  
Spinal Muscular Atrophy ◽  
English Language ◽  
Liver Toxicity ◽  
Muscular Atrophy ◽  
Data Extraction ◽  
Case Series ◽  
Survival Motor Neuron ◽  
Smn1 Gene ◽  
Smn Protein

Objective: To review the efficacy and safety of onasemnogene abeparvovec-xioi (Zolgensma) in the treatment of spinal muscular atrophy (SMA). Data Sources: An English-language literature search of PubMed, MEDLINE, and Ovid (1946 to December 2019) was completed using the terms onasemnogene, AVXS-101, and spinal muscular atrophy. Manufacturer prescribing information, article bibliographies, and data from ClinicalTrials.gov were incorporated in the reviewed data. Study Selection/Data Extraction: All studies registered on ClinicalTrials.gov were incorporated in the reviewed data. Data Synthesis: Onasemnogene is the first agent for SMA utilizing gene therapy to directly provide survival motor neuron 1 ( SMN1) gene to produce SMN protein. Four publications of 1 clinical trial, 1 comparison study of treatment effects, and 1 combination therapy case series have been published. Relevance to Patient Care and Clinical Practice: Onasemnogene is a one time dose approved by the Food and Drug Administration for SMA patients <2 years old who possess mutations in both copies of the SMN1 gene. Conclusion: Onasemnogene appears to be an efficacious therapy for younger pediatric patients with SMA type 1. Concerns include drug cost and potential liver toxicity. Long-term benefits and risks have not been determined.

Clinical Outcome Measures in Spinal Muscular Atrophy

2009 ◽  
Vol 24 (8) ◽  
pp. 968-978 ◽  
Author(s):  
Jacqueline Montes ◽  
Andrew M. Gordon ◽  
Shree Pandya ◽  
Darryl C. De Vivo ◽  
Petra Kaufmann
Keyword(s):  
Clinical Outcome ◽  
Spinal Muscular Atrophy ◽  
Outcome Measures ◽  
Muscular Atrophy

Ultrasound assisted lumbar intrathecal administration of nusinersen in adult patients with spinal muscular atrophy: a case series

2021 ◽  
Author(s):  
Bruno Antonio Zanfini ◽  
Stefano Catarci ◽  
Agata Katia Patanella ◽  
Marika Pane ◽  
Luciano Frassanito ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Case Series ◽  
Intrathecal Administration ◽  
Adult Patients ◽  
Ultrasound Assisted

scholarly journals Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

PLoS ONE ◽  
2017 ◽  
Vol 12 (2) ◽  
pp. e0172346 ◽  
Author(s):  
Danielle Ramsey ◽  
Mariacristina Scoto ◽  
Anna Mayhew ◽  
Marion Main ◽  
Elena S. Mazzone ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Spinal Muscular Atrophy ◽  
Outcome Assessment ◽  
Assessment Tool ◽  
Muscular Atrophy
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