New trials, publications, preprints and grants on this target, month by month.
Trial
SPX-01 Gene Therapy in Pediatric Patients With Spinal Muscular Atrophy Type 1 (RISE)
1 Jan 2027· EARLY_PHASE1 · NOT_YET_RECRUITING· CTGOV
Publication
An SMN2 splicing-correcting antisense oligonucleotide promotes gene looping and transcription activation.
3 Nov 2026· Molecular cell· PUBMED
Publication
Comparative Analysis of SMN2 Splicing Activity and Protein Production Following In Vitro Treatment with the Generic Risdiplam Drug Vapromin® and the Reference Drug Evrysdi®.
4 Sept 2026· Biomedicines· PUBMED
Publication
A Single-Tube Nested PCR Method for SMN1 Deletion Detection in Spinal Muscular Atrophy.
31 Aug 2026· Methods and protocols· PUBMED
Publication
Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous SMN1 Control.
31 Aug 2026· International journal of neonatal screening· PUBMED
Publication
Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.
22 Aug 2026· Clinica chimica acta; international journal of clinical chemistry· PUBMED
Publication
Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.
10 Aug 2026· European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· PUBMED
Publication
Spinal muscular atrophy with five SMN2 copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions.
30 Jul 2026· Frontiers in neurology· PUBMED
Publication
Simultaneous Detection of SMN1, SMN2, NAIP, H4F5, and GTF2H2 Copy Numbers and SMN1 Loss-of-Function Variants for SMA by MALDI-TOF Mass Spectrometry.
21 Jul 2026· The Journal of molecular diagnostics : JMD· PUBMED
Publication
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.
2 Jul 2026· European journal of human genetics : EJHG· PUBMED
Publication
Correction: Lamadrid-González et al. SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients. J. Clin. Med. 2024, 13, 6402.
29 Jun 2026· Journal of clinical medicine· PUBMED
Publication
Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.
6 Jun 2026· BMC medical genomics· PUBMED
Publication
Detection and characterization of SMN1 deletions in type IV spinal muscular atrophy using long-read whole-genome sequencing.
12 May 2026· Clinica chimica acta; international journal of clinical chemistry· PUBMED
Publication
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.
7 May 2026· EClinicalMedicine· PUBMED
Publication
Beyond SMN1 mutation: environmental predispositions and epigenetic contributors to phenotypic variability and disease severity in spinal muscular atrophy.
7 May 2026· Neuroscience· PUBMED
Publication
Combining SMN2 splicing modifiers with HDAC6 inhibition improves spinal muscular atrophy outcomes.
2 May 2026· Brain : a journal of neurology· PUBMED
Publication
Risdiplam Add-On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi-Center Case Series.
11 Apr 2026· Muscle & nerve· PUBMED
Publication
SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.
7 Apr 2026· Journal of human genetics· PUBMED
Preprint
Astrocyte targeted SMN1 gene therapy and forskolin application improves astrocyte filopodia actin defects and motor neuron synaptic dysfunction in human SMA disease pathology.
27 Mar 2026· bioRxiv : the preprint server for biology· PUBMED
Publication
Low-dose AAV9-SMN1 with CNS-selective expression delivers efficacy and favorable safety in spinal muscular atrophy.
3 Mar 2026· Molecular therapy : the journal of the American Society of Gene Therapy· PUBMED
Publication
Comparison of Nusinersen Monotherapy Versus Combination Therapy With Nusinersen and Onasemnogene Abeparvovec in Spinal Muscular Atrophy Type 1 Patients With Two SMN2 Copies: A Multicenter Study From Türkiye.
27 Feb 2026· Muscle & nerve· PUBMED
Publication
First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity.
22 Feb 2026· Molecular genetics and metabolism reports· PUBMED
Publication
Digital droplet PCR for detection of SMN1 deletion in low-concentration fragmented cell-free DNA: a proof of concept study.
19 Feb 2026· Scandinavian journal of clinical and laboratory investigation· PUBMED
Publication
SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.
12 Feb 2026· American journal of human genetics· PUBMED
Publication
Spinal muscular atrophy among US Hutterites: Phenotype variability in the setting of conserved ancestral haplotype and 4 SMN2 copies.
12 Feb 2026· Genetics in medicine : official journal of the American College of Medical Genetics· PUBMED
Publication
Comparative Characterization of a Proposed Generic Nusinersen: Identity of the Oligonucleotide Structure and Equivalence in SMN2 Splicing Activity.
29 Jan 2026· Pharmaceutics· PUBMED
Publication
A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review.
22 Jan 2026· BMC neurology· PUBMED
Publication
Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance.
16 Jan 2026· Journal of neuromuscular diseases· PUBMED
Publication
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
15 Dec 2025· EMBO molecular medicine· PUBMED
Publication
Integrative analysis of transcriptomics and drug-target networks identifies SMN1 as a novel biomarker and therapeutic target for amyotrophic lateral sclerosis.
4 Dec 2025· Journal, genetic engineering & biotechnology· PUBMED