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Active, Not Recruiting

NCT Number: NCT02263781

PREPL in Health and Disease

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

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Hypotonia-Cystinuria Syndrome Abnormalities, Multiple Body Weight Bone Diseases Bone Diseases, Developmental Bone Diseases, Endocrine Brain Diseases Central Nervous System Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dwarfism Dwarfism, Growth Hormone Deficiency Dwarfism, Pituitary Endocrine System Diseases Genetic Diseases, Inborn Healthy Volunteers Hypopituitarism Hypothalamic Diseases Imprinting Disorders Intellectual Disability Muscle Hypotonia Musculoskeletal Diseases Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Neuromuscular Manifestations Nutrition Disorders Nutritional and Metabolic Diseases Obesity Overnutrition Overweight Pathological Conditions, Signs and Symptoms Pituitary Diseases Prader-Willi Syndrome Signs and Symptoms

Age range

Up to 40 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

UZLeuven

Leuven, 3000, Belgium

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blood draw

Procedure

Blood draw

Muscle biopsy

Procedure

Muscle biopsy during planned anesthesia/surgery

Primary outcomes

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

    Time frame: 3 months

    normal values for PREPL activity

  2. 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. 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

Secondary outcomes

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

    Time frame: 3 months

    exploratory evaluation

Sponsors and collaborators

Lead sponsor

Universitaire Ziekenhuizen KU Leuven

Other

Collaborators

  • KU Leuven

Registry information

Acronym: PHD

Important dates

Study start
2014
Primary completion
2025
Study completion
2025
First posted
Oct 13, 2014
Registry last updated
Jul 16, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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