RecruitingPhase 2NCT07589595
Neuromuscular
Central Core Disease
Also known as CCD, RYR1-related myopathy, central core myopathy
Central Core Disease is a congenital myopathy caused by mutations in the RYR1 gene encoding the ryanodine receptor 1, which regulates calcium release from the sarcoplasmic reticulum in skeletal muscle. It is characterised by central cores —
ORPHA:597 ↗Gene RYR1Prevalence Less than 1 in 100,000Onset Congenital or infancyAutosomal dominant (occasionally recessive)
24
studies recruiting now
as of 7 Sept 2026
152
studies registered in total
as of 7 Sept 2026
5
countries with a recruiting site
as of 7 Sept 2026
15 May 2026
most recent study posted
among recruiting studies
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Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 24 recruiting studiesWhere recruiting studies are running
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 Central Core Disease
Central Core Disease is a congenital myopathy caused by mutations in the RYR1 gene encoding the ryanodine receptor 1, which regulates calcium release from the sarcoplasmic reticulum in skeletal muscle. It is characterised by central cores — areas of reduced oxidative enzyme activity — seen on muscle biopsy. A critical associated risk is malignant hyperthermia susceptibility, a potentially fatal hypermetabolic response to volatile anaesthetic agents and succinylcholine.
Common clinical features
Neonatal or infantile hypotoniaProximal limb muscle weakness, predominantly lower limbHip dislocation or dysplasiaDelayed motor milestones (walking often delayed to 18–24 months)ScoliosisMalignant hyperthermia susceptibilityRelatively non-progressive course in most patients
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Central Core Disease. Not eligibility rules; those are set by each study.
- Muscle biopsy with NADH-TR staining showing central cores is essential for diagnosis confirmation required by most trials; electron microscopy may be additionally requested
- All RYR1-related trials require documentation of MH risk status and prior anaesthetic history — carry an MH alert card to all pre-trial assessments
- RYR1 mutation spectrum is broad (dominant vs recessive, gain-of-function vs loss-of-function); genotype-stratified trials are increasingly common so precise variant characterisation matters
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).