RecruitingNCT00272883
Neuromuscular
Rigid Spine Muscular Dystrophy
Also known as RSMD1, rigid spine syndrome, SELENON deficiency, SEPN1-related myopathy
Rigid Spine Muscular Dystrophy type 1 (RSMD1) is caused by bi-allelic mutations in the SELENON gene (formerly SEPN1) encoding selenoprotein N, an endoplasmic reticulum glycoprotein involved in calcium homeostasis and redox regulation in ske
ORPHA:97243 ↗Gene SELENONPrevalence Less than 1 in 1,000,000Onset Infancy to early childhoodAutosomal recessive
2
studies recruiting now
as of 7 Sept 2026
3
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
27 Jul 2011
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT01403402
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Rigid Spine Muscular Dystrophy
Rigid Spine Muscular Dystrophy type 1 (RSMD1) is caused by bi-allelic mutations in the SELENON gene (formerly SEPN1) encoding selenoprotein N, an endoplasmic reticulum glycoprotein involved in calcium homeostasis and redox regulation in skeletal muscle. The hallmark clinical triad is a rigid spine with severe limitation of neck flexion, early-onset respiratory insufficiency disproportionate to limb weakness, and scoliosis. Limb weakness is typically mild early, but respiratory failure requiring nocturnal non-invasive ventilation develops in most patients within the first decade.
Common clinical features
Rigid spine with markedly limited neck and trunk flexionEarly respiratory failure disproportionate to limb weaknessScoliosisProximal limb weakness (relatively mild early in disease)Neonatal or infantile hypotoniaFeeding difficulties in infancyCardiomyopathy (rare but documented)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Rigid Spine Muscular Dystrophy. Not eligibility rules; those are set by each study.
- Bi-allelic SELENON mutations confirmed by sequencing are required; muscle biopsy is often not diagnostic but may show minicores — genetic confirmation is the primary diagnostic standard
- Respiratory function is the critical eligibility parameter: FVC% predicted, supine FVC, nocturnal oximetry, and capnography results should all be available and current before applying
- Whole-body muscle MRI showing a characteristic pattern (multifidus and semispinalis involvement) is an increasingly used imaging biomarker that strengthens the trial application and may be used as a follow-up endpoint
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).