Disease Directory Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Neuromuscular

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Type

Disease

Gene

TKFC, SLC25A4, AGK

About Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome is a rare disease catalogued by Orphanet (ORPHA:1369). It is associated with the TKFC, SLC25A4, AGK genes. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome trials.

Search ClinicalTrials.gov for "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" or filter by Orphanet code ORPHA:1369 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:1369)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome. Updated daily.