RecruitingNCT06157268
Neuromuscular
Multi-Minicore Disease
Also known as MmD, minicore myopathy, multi-minicore myopathy, SELENON-related myopathy
Multi-Minicore Disease is a congenital myopathy characterised by multiple small areas of reduced oxidative enzyme activity (minicores) on muscle biopsy, caused most commonly by bi-allelic mutations in SELENON (formerly SEPN1) or RYR1. The S
ORPHA:178145 ↗Gene SELENONGene RYR1Prevalence Less than 1 in 100,000Onset Congenital or early childhoodAutosomal recessive
1
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
5 Dec 2023
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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About Multi-Minicore Disease
Multi-Minicore Disease is a congenital myopathy characterised by multiple small areas of reduced oxidative enzyme activity (minicores) on muscle biopsy, caused most commonly by bi-allelic mutations in SELENON (formerly SEPN1) or RYR1. The SELENON form has a distinctive phenotype of rigid spine, early respiratory failure disproportionate to limb weakness, and scoliosis; the RYR1 form is more variable and may overlap with Central Core Disease. Respiratory failure is the major cause of morbidity.
Common clinical features
Neonatal or infantile hypotoniaRigid spine syndrome (limited neck and spine flexion)Respiratory insufficiency disproportionate to limb weaknessScoliosisProximal limb weaknessFeeding difficulties in infancyMalignant hyperthermia susceptibility (RYR1 form)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Multi-Minicore Disease. Not eligibility rules; those are set by each study.
- Genetic subtype (SELENON vs RYR1) is required as trials target distinct mechanisms; bi-allelic mutation confirmation via sequencing is standard
- Respiratory assessments including upright and supine FVC, overnight oximetry, and sleep study are primary eligibility criteria given the prominence of respiratory involvement
- MRI patterns of muscle involvement differ between SELENON and RYR1 forms and are increasingly used as imaging biomarkers — a whole-body muscle MRI before trial application is highly beneficial
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).