Disease Directory Congenital or early infantile CACH syndrome
Rare Disease

Congenital or early infantile CACH syndrome

Type

Clinical subtype

Gene

EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5

About Congenital or early infantile CACH syndrome

Congenital or early infantile CACH syndrome is a rare disease catalogued by Orphanet (ORPHA:157713). It is associated with the EIF2B1, EIF2B2, EIF2B3 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 or early infantile CACH syndrome trials.

Search ClinicalTrials.gov for "Congenital or early infantile CACH syndrome" or filter by Orphanet code ORPHA:157713 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:157713)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Congenital or early infantile CACH syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Congenital or early infantile CACH syndrome. Updated daily.