Disease Directory 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Rare Disease

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Type

Disease

Gene

HMGCS2

About 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency is a rare disease catalogued by Orphanet (ORPHA:35701). It is associated with the HMGCS2 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 3-hydroxy-3-methylglutaryl-CoA synthase deficiency trials.

Search ClinicalTrials.gov for "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" or filter by Orphanet code ORPHA:35701 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:35701)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting 3-hydroxy-3-methylglutaryl-CoA synthase deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. Updated daily.