PREPL in Health and Disease

Obesity Clinical Trial

— PHD  

Official title:

PREPL in Health and Disease

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT02263781
• Other study ID #: S57206
• Status: Not yet recruiting
• Phase: N/A
• First received: October 1, 2014
• Last updated: October 13, 2014
• Start date: October 2014
• Est. completion date: January 2015

Study information

• Verified date: September 2014
• Source: Universitaire Ziekenhuizen Leuven
• Contact: Luc Régal, MD
• Phone: 003216343820
• Email: luc.regal[@]uzleuven.be
• Is FDA regulated: No
• Health authority: Belgium: Ministry of Social Affairs, Public Health and the Environment
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 125
• Est. completion date: January 2015
• Est. primary completion date: January 2015
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A to 40 Years

Eligibility

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

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

Intervention

Procedure:
• Blood draw
Blood draw
• muscle biopsy
Muscle biopsy during planned anesthesia/surgery

Locations

Country	Name	City	State
Belgium	UZLeuven	Leuven

Sponsors (2)

Lead Sponsor	Collaborator
Universitaire Ziekenhuizen Leuven	Katholieke Universiteit Leuven

Country where clinical trial is conducted

Belgium, 

References & Publications (2)

Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet. 2006 Jan;78(1):38-51. Epub 2005 Nov 23. — View Citation

Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	PREPL activity (ng active PREPL/g protein) normal values in blood	normal values for PREPL activity	3 months	No
Primary	PREPL activity in patients with Prader Willi syndrome compared to activity in normal controls	Comparison of PREPL activity in blood and muscle between above mentioned groups	3 months	No
Primary	PREPL activity in patients with primary PREPL deficiency compared to activity in normal controls	Comparison of PREPL activity in blood between above mentioned groups	3 months	No
Secondary	PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls	exploratory evaluation	3 months	No