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| Name | Class |
|---|---|
| KU Leuven | OTHER |
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Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Control Blood | Experimental | Patients on routine postinfectious control, blood draw |
|
| Primary PREPL deficiency Blood | Experimental | Patients with primary PREPL deficiency, blood draw |
|
| Prader Willi syndrome Blood | Experimental | Patients with Prader-Willi syndrome, blood draw |
|
| Primary PREPL deficiency like Blood | Experimental | Patients with symptoms overlapping with primary PREPL deficiency (like hypotonia, growth hormone deficiency, obesity), blood draw |
|
| Control muscle | Experimental | Patients without hypotonia, growth hormone deficiency, obesity, undergoing elective surgery, muscle biopsy from the surgical site and blood draw |
|
| Prader-Willli syndrome muscle |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood draw | Procedure | Blood draw |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls | exploratory evaluation | 3 months |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Luc Régal, MD | KU Leuven | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UZLeuven | Leuven | 3000 | Belgium |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 24610330 | Background | 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. | |
| 16385448 | 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. |
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| ID | Term |
|---|---|
| C564710 | Hypotonia-Cystinuria Syndrome |
| D009123 | Muscle Hypotonia |
| D004393 | Dwarfism, Pituitary |
| D009765 | Obesity |
| D011218 | Prader-Willi Syndrome |
| ID | Term |
|---|---|
| D020879 | Neuromuscular Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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Patients with Prader-Willi syndrome undergoing elective anesthesia or surgery, muscle biopsy (from surgical site if applicable) and blood draw |
|
| muscle biopsy | Procedure | Muscle biopsy during planned anesthesia/surgery |
|
| D013568 | Pathological Conditions, Signs and Symptoms |
| D004392 | Dwarfism |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D001849 | Bone Diseases, Endocrine |
| D007018 | Hypopituitarism |
| D010900 | Pituitary Diseases |
| D007027 | Hypothalamic Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D004700 | Endocrine System Diseases |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
| D001835 | Body Weight |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |