Spinal Muscular Atrophy — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment.
Singh Natalia N et al. — RNA biology (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/42149739/
- 2.
PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy.
Zhai Weiqi et al. — Health information science and systems (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/42011232/
- 3.
Home CPAP/NIV in pediatric patients: which disorders?
Khirani Sonia et al. — Sleep medicine (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42202500/
- 4.
The silica-based sorbents for the mixed-mode extraction of risdiplam and its metabolite from serum samples.
Balińska Natalia et al. — Journal of chromatography. A (30 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42349182/
- 5.
[Carrier screening and prenatal diagnosis for Spinal muscular atrophy among 8 182 individuals of reproductive age from Zhangzhou region].
Li Tianyou et al. — Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (10 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42386659/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
- 2.
Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials
Recruiting — Phase 3 — Novartis Pharmaceuticals
https://clinicaltrials.gov/study/NCT05335876
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.
Most Recent Research
Spinal muscular atrophy (SMA) is the first human disease to be treated with an antisense oligonucleotide (ASO) that restores the full coding sequence of a mRNA through splicing modulation. The therapeutic ASO nusinersen (marketed as SpinrazaTM) targets intronic splicing silencer N1 (ISS-N1) located downstream of the predominantly skipped exon 7 of Survival Motor Neuron 2 (SMN2) gene. The full-length transcript of SMN2 codes for SMN, an essential housekeeping protein with a prominent role in RNA metabolism. The success of nusinersen could be attributed at least in part to the accessibility of ISS-N1 that was found to have a strong inhibitory effect on splicing of SMN2 exon 7. Nusinersen has saved thousands of lives affected by SMA. However, limitations of an ASO-based therapy continue to emerge. Here we describe lessons learned from ASO-mediated splicing corrections in general and nusinersen in particular. Specific focus of this review is to discuss how information gleaned from the off-target effects of nusinersen could be utilized to develop next generation of ASO-based therapies with improved efficacies.
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 240 clinical trials for Spinal Muscular Atrophy, of which 61 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Spinal Muscular Atrophy come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.