Obesity Clinical Trial
Official title:
PREPL in Health and Disease
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
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 deficiency.
The study will determine normal values for age (0-18) for PREPL activity in blood.
Also, patients with a clinical phenotype that overlaps with PREPL deficiency (including
patients with known primary PREPL deficiency and Prader-Willi syndrome) will be evaluated
for PREPL activity in blood.
A last part of the study will involve muscle biopsies during elective anesthesia/surgery for
other reasons. There will be 2 groups: patients without signs of PREPL deficiency undergoing
surgery (controls) and patients with Prader-Willi syndrome undergoing anesthesia or surgery
(patients). The control group will be age-matched to the hypotonia group. In the muscle
biopsies, PREPL activity and expression will be evaluated.
;
Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Diagnostic
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