Disease Directory Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Renal

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Type

Disease

Gene

MTHFR

About Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency is a rare disease catalogued by Orphanet (ORPHA:395). It is associated with the MTHFR 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 Homocystinuria due to methylene tetrahydrofolate reductase deficiency trials.

Search ClinicalTrials.gov for "Homocystinuria due to methylene tetrahydrofolate reductase deficiency" or filter by Orphanet code ORPHA:395 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:395)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Homocystinuria due to methylene tetrahydrofolate reductase deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Homocystinuria due to methylene tetrahydrofolate reductase deficiency. Updated daily.