RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Spinal Muscular Atrophy: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy.
Kumhera Markéta et al., Journal of neuromuscular diseases (17 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42891524/
- 2.
Provider Practice and Patient Clinical Follow-Up Among Patients With Spinal Muscular Atrophy (SMA) Linked-Variant.
Critchlow Elizabeth et al., Prenatal diagnosis (16 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42886896/
- 3.
Nationwide Implementation of Newborn Screening for Spinal Muscular Atrophy in Canada
Hugh J. McMillan et al., Neurology Genetics (15 October 2026)
https://doi.org/10.1212/nxg.0000000000200451
- 4.
Beyond Gross Motor Function: The Association Between Fine Motor Skills and Cognitive Development in Treated SMA Type 1
Sofia Biagi et al., Journal of Clinical Medicine (15 October 2026)
https://doi.org/10.3390/jcm15207999
- 5.
Proximity-mapped whole-genome sequencing for characterization of repeat expansions and variants in highly homologous genomic regions
Yuxiang Lin et al., medRxiv (13 October 2026)
https://doi.org/10.64898/2026.10.11.26365260
Clinical Trials : Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
A Study to Learn About Salanersen's (BIIB115) Effects on Movement and Its Safety When Given Before Symptoms Appear in Babies With Genetically Diagnosed Spinal Muscular Atrophy (SMA)
NCT07221669 · Recruiting · Phase 3 · Biogen
Ages 0 Days to 42 Days
https://clinicaltrials.gov/study/NCT07221669
- 2.
A Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics, and Immunogenicity of Intravenous Administration of ARGX-119 in Pediatric Participants Aged 5 to Less Than 18 Years With Spinal Muscular Atrophy
NCT07287982 · Recruiting · Phase 2 · argenx
Ages 5 to 17
https://clinicaltrials.gov/study/NCT07287982
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Spinal Muscular Atrophy
Spinal muscular atrophy is a genetic condition that causes muscle weakness and wasting. It affects a protein needed for motor nerve cells to survive. New treatments including gene therapies have dramatically changed outcomes for children diagnosed early.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
BackgroundSpinal muscular atrophy (SMA) is a severe, genetically determined neuromuscular disorder characterised by progressive muscle weakness resulting from motor neuron degeneration. Although therapies such as nusinersen have altered disease trajectories, objective biomarkers for treatment monitoring remain lacking. Neurofilament proteins, particularly phosphorylated neurofilament heavy chain (pNFH), are promising candidates for this role.ObjectivesTo evaluate pNFH levels in cerebrospinal fluid (CSF) and serum as potential biomarkers for monitoring treatment response to nusinersen in paediatric patients with SMA.MethodsThis two-center observational study involved 56 SMA patients (types I-III) treated with nusinersen and 30 age-matched controls. pNFH concentrations in CSF and serum were measured at predefined intervals using ELISA kits. Motor function was assessed with CHOP INTEND, HFMSE, or MFM scales at baseline and after 3, 6, and 12 months. Mixed linear regression modeling evaluated changes in neurofilament levels and motor function.ResultsBaseline pNFH levels in both CSF and serum were significantly higher in SMA patients compared to controls. Following nusinersen therapy, pNFH levels decreased significantly in both compartments, especially in the first 6 months. Younger patients had higher initial serum pNFH levels. A significant correlation was found between CSF and serum pNFH concentration. An association between pNFH levels and motor scores was observed.ConclusionspNFH levels in CSF and serum show potential as objective biomarkers for monitoring the initial treatment response in paediatric SMA. Longitudinal changes are more informative than single measurements. Further validation in larger cohorts and using more sensitive methods is warranted.
Common Questions
What is Spinal Muscular Atrophy?
Spinal muscular atrophy is a genetic condition that causes muscle weakness and wasting. It affects a protein needed for motor nerve cells to survive. New treatments including gene therapies have dramatically changed outcomes for children diagnosed early.
How many clinical trials are available for Spinal Muscular Atrophy?
RareWays currently indexes 171 clinical trials for Spinal Muscular Atrophy, of which 27 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Spinal Muscular Atrophy come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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