PREPL in Health and Disease (PHD)
July 12, 2024 updated by: Universitaire Ziekenhuizen KU Leuven
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
Study Overview
Status
Active, not recruiting
Conditions
Intervention / Treatment
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.
Study Type
Interventional
Enrollment (Estimated)
125
Phase
- Not Applicable
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
-
Leuven, Belgium, 3000
- UZLeuven
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
No older than 40 years (Child, Adult)
Accepts Healthy Volunteers
Yes
Description
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 Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: Non-Randomized
- Interventional Model: Parallel Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
|
Experimental: Control Blood
Patients on routine postinfectious control, blood draw
|
Blood draw
|
|
Experimental: Primary PREPL deficiency Blood
Patients with primary PREPL deficiency, blood draw
|
Blood draw
|
|
Experimental: Prader Willi syndrome Blood
Patients with Prader-Willi syndrome, blood draw
|
Blood draw
|
|
Experimental: Primary PREPL deficiency like Blood
Patients with symptoms overlapping with primary PREPL deficiency (like hypotonia, growth hormone deficiency, obesity), blood draw
|
Blood draw
|
|
Experimental: Control muscle
Patients without hypotonia, growth hormone deficiency, obesity, undergoing elective surgery, muscle biopsy from the surgical site and blood draw
|
Blood draw
Muscle biopsy during planned anesthesia/surgery
|
|
Experimental: Prader-Willli syndrome muscle
Patients with Prader-Willi syndrome undergoing elective anesthesia or surgery, muscle biopsy (from surgical site if applicable) and blood draw
|
Blood draw
Muscle biopsy during planned anesthesia/surgery
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
PREPL activity (ng active PREPL/g protein) normal values in blood
Time Frame: 3 months
|
normal values for PREPL activity
|
3 months
|
|
PREPL activity in patients with Prader Willi syndrome compared to activity in normal controls
Time Frame: 3 months
|
Comparison of PREPL activity in blood and muscle between above mentioned groups
|
3 months
|
|
PREPL activity in patients with primary PREPL deficiency compared to activity in normal controls
Time Frame: 3 months
|
Comparison of PREPL activity in blood between above mentioned groups
|
3 months
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls
Time Frame: 3 months
|
exploratory evaluation
|
3 months
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Collaborators
Investigators
- Principal Investigator: Luc Régal, MD, KU Leuven
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- Regal 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.
- 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. doi: 10.1086/498852. Epub 2005 Nov 23.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
October 1, 2014
Primary Completion (Estimated)
January 1, 2025
Study Completion (Estimated)
January 1, 2025
Study Registration Dates
First Submitted
October 1, 2014
First Submitted That Met QC Criteria
October 8, 2014
First Posted (Estimated)
October 13, 2014
Study Record Updates
Last Update Posted (Actual)
July 16, 2024
Last Update Submitted That Met QC Criteria
July 12, 2024
Last Verified
July 1, 2024
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Kidney Diseases
- Urologic Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Endocrine System Diseases
- Disease
- Congenital Abnormalities
- Overnutrition
- Nutrition Disorders
- Overweight
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Neuromuscular Manifestations
- Hypothalamic Diseases
- Bone Diseases
- Intellectual Disability
- Renal Tubular Transport, Inborn Errors
- Bone Diseases, Endocrine
- Pituitary Diseases
- Abnormalities, Multiple
- Chromosome Disorders
- Obesity
- Bone Diseases, Developmental
- Hypopituitarism
- Renal Aminoacidurias
- Female Urogenital Diseases
- Female Urogenital Diseases and Pregnancy Complications
- Urogenital Diseases
- Male Urogenital Diseases
- Imprinting Disorders
- Syndrome
- Prader-Willi Syndrome
- Dwarfism, Pituitary
- Cystinuria
- Dwarfism
- Muscle Hypotonia
Other Study ID Numbers
- S57206
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.