PREPL in Health and Disease — PHD  

Obesity Clinical Trial

Official title: PREPL in Health and Disease

Status Not yet recruiting

Clinical Trial Summary

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

Clinical Trial 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. ;

Study Design

Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Chromosome Deletion
• Craniofacial Abnormalities
• Cystinuria
• Dwarfism, Growth Hormone Deficiency
• Dwarfism, Pituitary
• Healthy Volunteers
• Hypotonia-Cystinuria Syndrome
• Intellectual Disability
• Mitochondrial Diseases
• Muscle Hypotonia
• Obesity
• Prader-Willi Syndrome
• Syndrome

• NCT number: NCT02263781
• Study type: Interventional
• Source: Universitaire Ziekenhuizen Leuven
• Contact: Luc Régal, MD
• Phone: 003216343820
• Email: luc.regal@uzleuven.be
• Status: Not yet recruiting
• Phase: N/A
• Start date: October 2014
• Completion date: January 2015