Disease Directory Mitochondrial myopathy and sideroblastic anemia
Neuromuscular

Mitochondrial myopathy and sideroblastic anemia

Type

Disease

Gene

PUS1, YARS2

About Mitochondrial myopathy and sideroblastic anemia

Mitochondrial myopathy and sideroblastic anemia is a rare disease catalogued by Orphanet (ORPHA:2598). It is associated with the PUS1, YARS2 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 Mitochondrial myopathy and sideroblastic anemia trials.

Search ClinicalTrials.gov for "Mitochondrial myopathy and sideroblastic anemia" or filter by Orphanet code ORPHA:2598 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:2598)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Mitochondrial myopathy and sideroblastic anemia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Mitochondrial myopathy and sideroblastic anemia. Updated daily.