Status:
ACTIVE_NOT_RECRUITING
PREPL in Health and Disease
Lead Sponsor:
Universitaire Ziekenhuizen KU Leuven
Collaborating Sponsors:
KU Leuven
Conditions:
Hypotonia-Cystinuria Syndrome
Muscle Hypotonia
Eligibility:
All Genders
Up to 40 years
Phase:
NA
Brief Summary
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
Detailed Description
PREPL is defective in hypotonia cystinuria syndrome and in isolated PREPL deficiency. The investigators have constructed a blood test to evaluate PREPL activity in patients with possible PREPL deficie...
Eligibility Criteria
Inclusion
- According to group
- Control group: children seen at a postinfectious consultation
Exclusion
- 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
Key Trial Info
Start Date :
October 1 2014
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
January 1 2025
Estimated Enrollment :
125 Patients enrolled
Trial Details
Trial ID
NCT02263781
Start Date
October 1 2014
End Date
January 1 2025
Last Update
July 16 2024
Active Locations (1)
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1
UZLeuven
Leuven, Belgium, 3000