PREPL in Health and Disease

NCT02263781 | Active Not Recruiting

• 1 other identifier: S57206
• Study Type: interventional
• Target: 125
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

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

Outcome Measures

Primary Outcomes (3)

• PREPL activity (ng active PREPL/g protein) normal values in blood

  normal values for PREPL activity

  3 months

• 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

• 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

Secondary Outcomes (1)

• PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls

  3 months

Study Arms (6)

Control Blood

EXPERIMENTAL

Patients on routine postinfectious control, blood draw

Procedure: Blood draw

Primary PREPL deficiency Blood

EXPERIMENTAL

Patients with primary PREPL deficiency, blood draw

Procedure: Blood draw

Prader Willi syndrome Blood

EXPERIMENTAL

Patients with Prader-Willi syndrome, blood draw

Procedure: Blood draw

Primary PREPL deficiency like Blood

EXPERIMENTAL

Patients with symptoms overlapping with primary PREPL deficiency (like hypotonia, growth hormone deficiency, obesity), blood draw

Procedure: Blood draw

Control muscle

EXPERIMENTAL

Patients without hypotonia, growth hormone deficiency, obesity, undergoing elective surgery, muscle biopsy from the surgical site and blood draw

Procedure: Blood draw; Procedure: muscle biopsy

Prader-Willli syndrome muscle

EXPERIMENTAL

Patients with Prader-Willi syndrome undergoing elective anesthesia or surgery, muscle biopsy (from surgical site if applicable) and blood draw

Procedure: Blood draw; Procedure: muscle biopsy

Interventions

Blood draw PROCEDURE

Blood draw

Control Blood; Control muscle; Prader Willi syndrome Blood; Prader-Willli syndrome muscle; Primary PREPL deficiency Blood; Primary PREPL deficiency like Blood

muscle biopsy PROCEDURE

Muscle biopsy during planned anesthesia/surgery

Control muscle; Prader-Willli syndrome muscle

Eligibility Criteria

• Age: Up to 40 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• According to group
• Control group: children seen at a postinfectious consultation

You may not qualify if:

• 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

Sponsors & Collaborators

• Universitaire Ziekenhuizen KU Leuven: lead
• KU Leuven: collaborator

Study Sites (1)

UZLeuven

Leuven, 3000, Belgium

Location

Related Publications (2)

• 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.

  PMID: 24610330 BACKGROUND

• 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.

  PMID: 16385448 BACKGROUND

MeSH Terms

Conditions

Hypotonia-Cystinuria Syndrome; Muscle Hypotonia; Dwarfism, Pituitary; Obesity; Prader-Willi Syndrome

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Neuromuscular Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Bone Diseases, Endocrine; Hypopituitarism; Pituitary Diseases; Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Endocrine System Diseases; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Body Weight; Intellectual Disability; Neurobehavioral Manifestations; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Luc Régal, MD

  KU Leuven

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 1, 2014
• First Posted: October 13, 2014
• Study Start: October 1, 2014
• Primary Completion: January 1, 2025
• Study Completion: January 1, 2025
• Last Updated: July 16, 2024

Record last verified: 2024-07

Locations

BE (1)