PREPL in Health and Disease (PHD)

Universitaire Ziekenhuizen KU Leuven

Status: Active, not recruiting

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

Treatments: Procedure: Blood draw; Procedure: muscle biopsy

Study type: Interventional

Funder types: Other

Identifiers

NCT02263781

S57206

Details and patient eligibility

About

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

Full 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.

Enrollment: 125 estimated patients

Sex: All

Ages: Under 40 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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125 participants in 6 patient groups

Control Blood

Experimental group

Description:

Patients on routine postinfectious control, blood draw

Treatment:

Procedure: Blood draw

Primary PREPL deficiency Blood

Experimental group

Description:

Patients with primary PREPL deficiency, blood draw

Treatment:

Procedure: Blood draw

Prader Willi syndrome Blood

Experimental group

Description:

Patients with Prader-Willi syndrome, blood draw

Treatment:

Procedure: Blood draw

Primary PREPL deficiency like Blood

Experimental group

Description:

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

Treatment:

Procedure: Blood draw

Control muscle

Experimental group

Description:

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

Treatment:

Procedure: muscle biopsy

Procedure: Blood draw

Prader-Willli syndrome muscle

Experimental group

Description:

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

Treatment:

Procedure: muscle biopsy

Procedure: Blood draw