Disease Directory Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
Neurological

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

Type

Disease

Gene

PNPO

About Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy is a rare disease catalogued by Orphanet (ORPHA:79096). It is associated with the PNPO 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 Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy trials.

Search ClinicalTrials.gov for "Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy" or filter by Orphanet code ORPHA:79096 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:79096)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy. Updated daily.