NCT02263781

PREPL in Health and Disease

• Status: Active Not Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 125 (estimated)
• Sponsor: Universitaire Ziekenhuizen KU Leuven · Academic / Other
• Sex: All
• Age: 40 Years
• Healthy volunteers: Accepted

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 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.

Conditions

• Hypotonia-Cystinuria Syndrome
• Muscle Hypotonia
• Healthy Volunteers
• Dwarfism, Growth Hormone Deficiency
• Obesity
• Prader-Willi Syndrome

Interventions

Type	Name	Description
PROCEDURE	Blood draw	Blood draw
PROCEDURE	muscle biopsy	Muscle biopsy during planned anesthesia/surgery

Timeline

• Start date: 2014-10-01
• Primary completion: 2025-01-01
• Completion: 2025-01-01
• First posted: 2014-10-13
• Last updated: 2024-07-16

Locations

1 site across 1 country: Belgium