Disease Directory Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Mitochondrial

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Type

Disease

Gene

ECHS1

About Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency is a rare disease catalogued by Orphanet (ORPHA:653880). It is associated with the ECHS1 gene. 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 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency trials.

Search ClinicalTrials.gov for "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency" or filter by Orphanet code ORPHA:653880 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

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Orphanet

European reference resource for rare diseases (ORPHA:653880)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. Updated daily.