Disease Directory Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Neurological

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Type

Disease

Gene

TPK1

About Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare disease catalogued by Orphanet (ORPHA:293955). It is associated with the TPK1 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 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency trials.

Search ClinicalTrials.gov for "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency" or filter by Orphanet code ORPHA:293955 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:293955)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Childhood encephalopathy due to thiamine pyrophosphokinase deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Childhood encephalopathy due to thiamine pyrophosphokinase deficiency. Updated daily.