Rigid Spine Muscular Dystrophy Clinical Trials 2026 — Find Recruiting Studies

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 flexion Early respiratory failure disproportionate to limb weakness Scoliosis Proximal limb weakness (relatively mild early in disease) Neonatal or infantile hypotonia Feeding difficulties in infancy Cardiomyopathy (rare but documented)

Clinical Trial Eligibility Tips

What to know before applying to Rigid Spine Muscular Dystrophy trials.

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