PREPL in Health and Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

NA

Total Enrollment

125 participants

Study Classification

INTERVENTIONAL

Study Start Date

2014-10-31

Study Completion Date

2025-01-31

Brief Summary

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

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Detailed Description

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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.

Conditions

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

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

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Blood draw

Intervention Type PROCEDURE

muscle biopsy

Muscle biopsy during planned anesthesia/surgery

Intervention Type PROCEDURE

Eligibility Criteria

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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

Maximum Eligible Age

40 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes