Muscular Atrophy, Spinal
Recent clinical, regulatory, research and industry developments relating to this disease.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 1 regulatory approval from EMA on record.
- 3 clinical trials expected to report results, the earliest in Q1 2028.
- Q1 2028A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients With Spinal Muscular Atrophy After Gene Therapy
- Q4 2028An Open-Label Study to Assess the Efficacy and Safety of Multiple Doses of Salanersen (BIIB115) Delivered Intrathecally to Treatment-Naïve, Presymptomatic Infants With Genetically Diagnosed Spinal Muscular Atrophy
- Q4 2031A Randomized, Blinded, Placebo-Controlled, Phase 1 Single Ascending Dose Study in Healthy Adult Male Volunteers and an Open-Label Multiple Ascending Dose Study With Long-Term Extension in Pediatric SMA Participants Previously Treated With Onasemnogene Abeparvovec (Zolgensma™) to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115
Clinical MilestonesViewHide
- 2026-07-09A Randomized, Blinded, Placebo-Controlled, Phase 1 Single Ascending Dose Study in Healthy Adult Male Volunteers and an Open-Label Multiple Ascending Dose Study With Long-Term Extension in Pediatric SMA Participants Previously Treated With Onasemnogene Abeparvovec (Zolgensma™) to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115Results expected Q4 2031
- 2026-07-06A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients With Spinal Muscular Atrophy After Gene TherapyResults expected Q1 2028
- 2026-07-06An Open-Label Study to Assess the Efficacy and Safety of Multiple Doses of Salanersen (BIIB115) Delivered Intrathecally to Treatment-Naïve, Presymptomatic Infants With Genetically Diagnosed Spinal Muscular AtrophyResults expected Q4 2028
- 2026-07-31A Long-Term Extension Study of Nusinersen (BIIB058) Administered at Higher Doses in Participants With Spinal Muscular Atrophy Who Previously Participated in an Investigational Study With NusinersenPrimary completion
- 2026-05-04A Phase II, Open-label Study to Investigate the Pharmacokinetics and Safety of Risdiplam in Infants With Spinal Muscular AtrophyCompleted
- 2025-10-09A Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene AbeparvovecCompleted
Regulatory UpdatesViewHide
- 2026-06-30Approval — Onasemnogene abeparvovecItvisma is indicated for the treatment of 5q spinal muscular atrophy (SMA) with a bi-allelic mutation in the SMN1 gene in patients 2 years of age and older.
- 2026-07-31ClinicalA Long-Term Extension Study of Nusinersen (BIIB058) Administered at Higher Doses in Participants With Spinal Muscular Atrophy Who Previously Participated in an Investigational Study With NusinersenPrimary completion
- 2026-07-09ClinicalA Randomized, Blinded, Placebo-Controlled, Phase 1 Single Ascending Dose Study in Healthy Adult Male Volunteers and an Open-Label Multiple Ascending Dose Study With Long-Term Extension in Pediatric SMA Participants Previously Treated With Onasemnogene Abeparvovec (Zolgensma™) to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115Results expected Q4 2031
- 2026-07-06ClinicalA Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients With Spinal Muscular Atrophy After Gene TherapyResults expected Q1 2028
- 2026-07-06ClinicalAn Open-Label Study to Assess the Efficacy and Safety of Multiple Doses of Salanersen (BIIB115) Delivered Intrathecally to Treatment-Naïve, Presymptomatic Infants With Genetically Diagnosed Spinal Muscular AtrophyResults expected Q4 2028
- 2026-06-30RegulatoryApproval — Onasemnogene abeparvovecItvisma is indicated for the treatment of 5q spinal muscular atrophy (SMA) with a bi-allelic mutation in the SMN1 gene in patients 2 years of age and older.
- 2026-05-04ClinicalA Phase II, Open-label Study to Investigate the Pharmacokinetics and Safety of Risdiplam in Infants With Spinal Muscular AtrophyCompleted
- 2025-10-09ClinicalA Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene AbeparvovecCompleted
Therapeutic landscape
Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.
Approval — Itvisma is indicated for the treatment of 5q spinal muscular atrophy (SMA) with a bi-alle… (2026)
Accelerated approval — Evrysdi is indicated for the treatment of 5q spinal muscular atrophy (SMA) in patients wi… (2021)
Accelerated approval — Spinraza is indicated for the treatment of 5q Spinal Muscular Atrophy. (2017)
Clinical trials
The current development programme across all trial phases.
Regulatory timeline
Drug regulatory events matched to this condition by indication — EMA.
European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes8
- Muscular Atrophy, Spinal3
- Genetic Therapy2
- Biological Products1
- Biomarkers1
- Chemical and Drug Induced Liver Injury1
- CRISPR-Cas Systems1
- Gene Editing1
- Neurofilament Proteins1
Leading journals5
- Clinical chemistry and laboratory medicine1
- Journal of hepatology1
- Nature communications1
- Neuromuscular disorders : NMD1
- The Journal of pediatrics1
Leading researchers8
- Reyna SP2
- Arya K1
- Bayoumy S1
- Beerepoot S1
- Ben-Omran T1
- Bertini E1
- Bhan I1
- Braley G1
Affiliations (unnormalised)6
- Amsterdam Leukodystrophy Center1
- Amsterdam University Medical Centers Location Academic Medical Center1
- Ann & Robert H. Lurie Children's Hospital of Chicago1
- Center for Genomic Medicine1
- Center for Lysosomal and Metabolic Diseases1
- Center for Translational Immunology1
Disease biology
Key proteins & gene products studied in this disease. Number shows shared papers.
Disease profile
A grounded synthesis of the condition — overview, causes, mechanism, risk factors and current standard of care.
Spinal muscular atrophy is a group of disorders marked by progressive degeneration of motor neurons in the spinal cord, leading to weakness and muscular atrophy. It usually occurs without evidence of injury to the corticospinal tracts. The category includes Werdnig-Hoffmann disease and later-onset spinal muscular atrophies of childhood, most of which are hereditary.
Most cases are hereditary. The supplied review abstract identifies mutations in the survival motor neuron 1 (SMN1) gene as the cause of spinal muscular atrophy.
The disease involves progressive neuromuscular degeneration driven by loss of spinal motor neurons. This motor neuron degeneration leads to muscle weakness and atrophy, and the review abstract notes neuroaxonal damage that can be reflected by blood neurofilament light protein levels.
Hereditary disease is a major risk factor, since most disorders in this category are inherited. The review abstract also indicates that SMN1 mutations underlie spinal muscular atrophy, making genetic status a key risk factor.
Management includes disease-modifying therapy and drug therapy, with the literature also addressing blood biomarkers for monitoring treatment response. The supplied abstract supports the use of newborn genetic screening for presymptomatic diagnosis and immediate treatment administration, but does not specify particular drug classes beyond disease-modifying therapies and recombinant fusion proteins as a co-studied therapeutic entity.
AI-generated summary grounded in MeSH and 1 peer-reviewed source. Informational only — not medical advice. Generated 2026-07-07.
Reference
Authoritative identity, definition & identifiers.
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.