Active — Not RecruitingNot Applicable

PREPL in Health and Disease

Belgium125 participantsStarted 2014-10

Plain-language summary

Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients

Who can participate

Age range40 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * According to group * Control group: children seen at a postinfectious consultation Exclusion Criteria: * Control group: symptoms overlapping with PREPL deficiency, genetic or syndromic disease, atypically developing children * other groups: contraindication for blood draw * group with muscle biopsy: contra-indication for muscle biopsy

What they're measuring

PREPL activity (ng active PREPL/g protein) normal values in blood

Timeframe: 3 months

PREPL activity in patients with Prader Willi syndrome compared to activity in normal controls

Timeframe: 3 months

PREPL activity in patients with primary PREPL deficiency compared to activity in normal controls

Timeframe: 3 months

Trial details

NCT IDNCT02263781

SponsorUniversitaire Ziekenhuizen KU Leuven

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2025-01

View on ClinicalTrials.gov More Hypotonia-Cystinuria Syndrome trials