Spinal Muscular Atrophy — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment.
Li Huanyun et al. — Annals of medicine (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/41489856/
- 2.
Workshop report: Findings from the 2025 Italian SMAkers Educational Initiative on SMA management in Italy.
Corti Stefania et al. — Journal of the neurological sciences (15 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41780423/
- 3.
Proteomics dataset of liver tissue from spinal muscular atrophy, heterozygous, and wild-type mice, enabling pathway identification.
Vrettou Sofia et al. — Data in brief (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41809904/
- 4.
Outcomes of combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam over 3.5 years in a patient with prenatally diagnosed spinal muscular atrophy type 0: A case report.
Okubo Yukimune et al. — Brain & development (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41795276/
- 5.
Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategies.
Ottoboni Linda et al. — Neurobiology of disease (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41720432/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
TulmiSTAR-02: A Phase I/II Open-label Study of Tulmimetostat in Combination With Darolutamide vs. Darolutamide, and Tulmimetostat With Abiraterone in Patients With Metastatic Hormone-sensitive Prostate Cancer (mHSPC)
Recruiting — Phase 1 — Novartis Pharmaceuticals
https://clinicaltrials.gov/study/NCT07190300
- 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
- 3.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
- 4.
A Study to Compare the Efficacy and Safety of BMS-986365 Versus the Investigator's Choice of Therapy in Participants With Metastatic Castration-resistant Prostate Cancer
Recruiting — Phase 3 — Celgene
https://clinicaltrials.gov/study/NCT06764485
- 5.
Thoracotomy Versus Thoracoscopic Management of Pulmonary Metastases in Patients With Osteosarcoma
Recruiting — Phase 3 — Children's Oncology Group
https://clinicaltrials.gov/study/NCT05235165
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
BACKGROUND: To validate the clinical efficacy of non-invasive prenatal diagnosis (NIPD) for spinal muscular atrophy (SMA) in the first trimester and extend its applicability to families without probands. METHOD: From December 2020 to October 2024, 288 high-risk pregnancies were recruited prospectively, with 81 qualifying for NIPD after genetic counseling. Among the eligible cases, parent-based haplotypes were successfully constructed in 75 families (92.6%), while grandparent-based haplotype reconstruction was performed for the remaining 6 cases (7.4%) where proband samples were unavailable. Through targeted sequencing of the SMN1/SMN2 gene and flanking informative SNPs in maternal plasma, fetal haplotypes were inferred by analyzing dosage changes in cell-free DNA (cfDNA) using Bayes factor. All NIPD results were subsequently validated through invasive diagnostic procedures (chorionic villus sampling or amniocentesis). RESULTS: The haplotypes were successfully constructed in 81 families through parents or grandparents of the identified variant carriers. 76 families (93.8%) successfully obtained NIPD results, among which the earliest gestational week for successful NIPD was 7+3 weeks, with a minimum fetal fraction of 1.9%. 5 cases were classified 'no call' results due to pathogenic variant-adjacent recombination events (2/5), insufficient or unevenly distributed informative SNPs (2/5), and subthreshold fetal fraction (1/5). The average gestational age of NIPD blood drawing is 9 weeks. Validation test showed the NIPD results accuracy was 100%. CONCLUSION: This study demonstrates the clinical feasibility of grandparent-assisted haplotype construction for SMA families without probands and enables accurate early prenatal diagnosis of SMA in first-trimester pregnancies.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.