4.5 Review

Progress in spinal muscular atrophy research

Related references

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Article Clinical Neurology

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial

Eugenio Mercuri et al.

Summary: Risdiplam has shown significant improvement in motor function compared to placebo in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. Motor function generally improved in younger patients and stabilized in older patients.

LANCET NEUROLOGY (2022)

Article Clinical Neurology

Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4

Bram De Wel et al.

Summary: The study found that nusinersen treatment significantly improved hand grip strength, hand motor function, and MRC sum scores in adult patients with SMA type 3 and 4. While some patients achieved a minimal clinically important difference in HFMSE and RULM scores, the mean changes were not significant.

JOURNAL OF NEUROLOGY (2021)

Article Clinical Neurology

An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment

Camilla Binz et al.

Summary: Fatigue is a common and relevant complaint in adult SMA patients, with potential to be considered as an additional outcome measure in assessing treatment efficacy. The study found correlations between fatigue and factors such as age, disease duration, and health-related quality of life, highlighting the importance of further evaluation in a larger patient cohort over an extended observation period.

JOURNAL OF NEUROLOGY (2021)

Article Clinical Neurology

A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial OfReldesemtivIn Patients With ALS

Jeremy M. Shefner et al.

Summary: This study evaluated the safety, dose response, and preliminary efficacy of reldesemtiv in patients with ALS. Although the primary efficacy analysis did not demonstrate statistical significance, post hoc analyses showed trends favoring reldesemtiv in all endpoints, with good tolerability.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2021)

Article Clinical Neurology

Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy

Robert C. Sergott et al.

Summary: Evaluation of ophthalmologic safety in patients with spinal muscular atrophy (SMA) treated with risdiplam showed no retinal structural or functional changes, suggesting that safety ophthalmologic monitoring is not needed in these patients.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)

Review Genetics & Heredity

Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis

Giorgia Coratti et al.

Summary: This review critically examined real-world data on motor function in SMA patients treated with Nusinersen, finding positive changes in the treated group compared to negative changes in the untreated group.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Article Medicine, General & Internal

Risdiplam in Type 1 Spinal Muscular Atrophy

Giovanni Baranello et al.

Summary: In a study involving 21 infants with type 1 spinal muscular atrophy, treatment with oral risdiplam resulted in increased levels of functional SMN protein in the blood. Infants in the high-dose group were more likely to sit without support for at least 5 seconds, and the higher dose of risdiplam was selected for the second part of the study.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

Article Clinical Neurology

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

John W. Day et al.

Summary: The study evaluated the safety and efficacy of onasemnogene abeparvovec gene therapy in symptomatic patients with infantile-onset spinal muscular atrophy. Results showed that patients achieved independent sitting and survival rates without permanent ventilation at certain time points, with a favorable benefit-risk profile supporting the use of onasemnogene abeparvovec for treatment of this condition.

LANCET NEUROLOGY (2021)

Article Clinical Neurology

Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen

Giorgia Coratti et al.

Summary: This study aimed to investigate the 12-month changes in pediatric type II SMA patients treated with nusinersen. The results showed an improvement in scores over the 12-month period, contrary to natural history data.

NEUROMUSCULAR DISORDERS (2021)

Article Clinical Neurology

Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy

Jerry R. Mendell et al.

Summary: This ongoing study evaluates the long-term safety and effectiveness of onasemnogene abeparvovec gene replacement therapy in infants with SMA type 1. The therapeutic dose showed sustained clinical benefits for patients with no need for permanent ventilation up to 6 years of age.

JAMA NEUROLOGY (2021)

Article Neurosciences

Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

Alma Osmanovic et al.

Summary: The study examined wearing-off phenomena during nusinersen maintenance dosing in adult SMA patients, finding that nearly half of the administrations showed wearing-off effects, mainly affecting muscle function and independence in daily life; Patients with specific phenotypic features may benefit from higher dosing or shorter treatment intervals.

BRAIN SCIENCES (2021)

Article Medicine, General & Internal

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Basil T. Darras et al.

Summary: In this study involving infants with type 1 SMA, treatment with risdiplam resulted in higher percentages of infants who achieved motor milestones and showed improvements in motor function compared to historical controls. Longer and larger trials are needed to confirm the long-term safety and efficacy of risdiplam in infants with type 1 SMA.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

Article Clinical Neurology

Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec - A Single Centre Experience

Johannes Friese et al.

Summary: Treatment with onasemnogene abeparvovec was associated with temporary increase in body temperature and transaminase levels in SMA patients. Close monitoring and adaptation of immunosuppressive regimen helped control the immune response, with some patients experiencing thrombocytopenia and increased monocytes following gene therapy. Liver values and blood counts returned to normal levels post-treatment, suggesting potential for managing adverse events in a broader patient population.

JOURNAL OF NEUROMUSCULAR DISEASES (2021)

Article Clinical Neurology

Nusinersen Treatment in Adults With Spinal Muscular Atrophy

Tina Duong et al.

Summary: This study evaluated changes in motor and respiratory function in adults with spinal muscular atrophy (SMA) following treatment with nusinersen over a two-year period. The results showed significant improvements in various motor and respiratory measures in participants, suggesting the efficacy of nusinersen in treating SMA. All participants tolerated nusinersen well with no significant adverse events reported.

NEUROLOGY-CLINICAL PRACTICE (2021)

Article Clinical Neurology

Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy

Alma Osmanovic et al.

Summary: The study assessed treatment satisfaction of 5q-SMA patients treated with nusinersen, revealing that most patients were satisfied with treatment effectiveness, with higher satisfaction observed in less severely affected patients. There was lower satisfaction in terms of treatment convenience, and non-ambulatory patients were more likely to express dissatisfaction with effectiveness and convenience.

THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS (2021)

Article Geriatrics & Gerontology

Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy

Haiyan Zhou et al.

JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE (2020)

Article Clinical Neurology

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

Lorenzo Maggi et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2020)

Article Clinical Neurology

Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy

Crystal Jing Jing Yeo et al.

JOURNAL OF NEUROMUSCULAR DISEASES (2020)

Article Clinical Neurology

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data

Marika Pane et al.

ANNALS OF NEUROLOGY (2019)

Article Clinical Neurology

Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients

Claudia D. Wurster et al.

JOURNAL OF NEUROLOGY (2019)

Article Clinical Neurology

Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3-A Prospective Observational Study

Maggie C. Walter et al.

JOURNAL OF NEUROMUSCULAR DISEASES (2019)

Article Clinical Neurology

One Year of Newborn Screening for SMA - Results of a German Pilot Project

Katharina Vill et al.

JOURNAL OF NEUROMUSCULAR DISEASES (2019)

Review Biochemistry & Molecular Biology

The role of survival motor neuron protein (SMN) in protein homeostasis

Helena Chaytow et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2018)

Article Medicine, General & Internal

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

E. Mercuri et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Article Clinical Neurology

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1 A cohort study

Karolina Aragon-Gawinska et al.

NEUROLOGY (2018)

Article Anatomy & Morphology

Survival of motor neurone protein is required for normal postnatal development of the spleen

Alison K. Thomson et al.

JOURNAL OF ANATOMY (2017)

Meeting Abstract Clinical Neurology

Clinical studies of RG7916 in patients with spinal muscular atrophy: SUNFISH part 1 study update

E. Mercuri et al.

NEUROMUSCULAR DISORDERS (2017)

Article Medicine, General & Internal

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

J. R. Mendell et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Medicine, General & Internal

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

R. S. Finkel et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Genetics & Heredity

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy a literature review

Ingrid E. C. Verhaart et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Article Clinical Neurology

Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy

Sonia Khirani et al.

PEDIATRIC NEUROLOGY (2017)

Article Biochemistry & Molecular Biology

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

Sara E. Gombash et al.

HUMAN MOLECULAR GENETICS (2015)

Article Multidisciplinary Sciences

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

Nikolai A. Naryshkin et al.

SCIENCE (2014)

Article Clinical Neurology

Glucose metabolism and pancreatic defects in spinal muscular atrophy

Melissa Bowerman et al.

ANNALS OF NEUROLOGY (2012)

Article Biochemistry & Molecular Biology

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72 400 specimens

Elaine A. Sugarman et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Article Cell Biology

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

Marco A. Passini et al.

SCIENCE TRANSLATIONAL MEDICINE (2011)

Article Biochemistry & Molecular Biology

Cardiac defects contribute to the pathology of spinal muscular atrophy models

Monir Shababi et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biotechnology & Applied Microbiology

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

Kevin D. Foust et al.

NATURE BIOTECHNOLOGY (2010)

Article Oncology

Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy

Srinivasan Shanmugarajan et al.

JOURNAL OF PATHOLOGY (2009)

Review Neurosciences

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Arthur H. M. Burghes et al.

NATURE REVIEWS NEUROSCIENCE (2009)

Article Genetics & Heredity

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in Transgenic mice

Yimin Hua et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Biochemistry & Molecular Biology

Enhancement of SMN2 Exon 7 inclusion by antisense oligonucleotides targeting the exon

Yimin Hua et al.

PLOS BIOLOGY (2007)