Disease Directory Fatal infantile hypertonic myofibrillar myopathy
Neuromuscular

Fatal infantile hypertonic myofibrillar myopathy

Type

Disease

Gene

CRYAB

About Fatal infantile hypertonic myofibrillar myopathy

Fatal infantile hypertonic myofibrillar myopathy is a rare disease catalogued by Orphanet (ORPHA:280553). It is associated with the CRYAB 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 Fatal infantile hypertonic myofibrillar myopathy trials.

Search ClinicalTrials.gov for "Fatal infantile hypertonic myofibrillar myopathy" or filter by Orphanet code ORPHA:280553 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:280553)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Fatal infantile hypertonic myofibrillar myopathy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Fatal infantile hypertonic myofibrillar myopathy. Updated daily.