Disease Directory Pyridoxine-dependent-developmental and epileptic encephalopathy
Neurological

Pyridoxine-dependent-developmental and epileptic encephalopathy

Type

Disease

Gene

ALDH7A1, PLPBP

About Pyridoxine-dependent-developmental and epileptic encephalopathy

Pyridoxine-dependent-developmental and epileptic encephalopathy is a rare disease catalogued by Orphanet (ORPHA:3006). It is associated with the ALDH7A1, PLPBP 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 Pyridoxine-dependent-developmental and epileptic encephalopathy trials.

Search ClinicalTrials.gov for "Pyridoxine-dependent-developmental and epileptic encephalopathy" or filter by Orphanet code ORPHA:3006 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:3006)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Pyridoxine-dependent-developmental and epileptic encephalopathy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Pyridoxine-dependent-developmental and epileptic encephalopathy. Updated daily.