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| Name | Class |
|---|---|
| European Society for Paediatric Endocrinology | UNKNOWN |
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The present project aims to determine the underlying mechanisms for the switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in PWS. The primary objective is to describe the evolution of circulating hormones involved in feeding and appetite regulation during the 4 first years of life. The secondary objective is to make this blood bank available for other research projects and particularly the investigation of hormones involved in hypogonadism.
Over the last ten years, the age at diagnosis in PWS has fallen significantly and the majority of cases is now diagnosed during the 1st trimester of life giving the possibility to collect precise clinical data and serum samples at early stages. The investigators of the project are involved in the care of patients with PWS and have a devoted clinic and an organized network in their country through clinical networks or patient associations.
The investigators propose to perform a prospective multicentric study, both longitudinal (duration 30 months) and cross-sectional with implementation of a blood bank in link with a multicenter database including clinical data on birth, auxology, endocrine functions and feeding behaviour. The cohort will include 200 infants from 3 to 48 months with PWS and 200 controls matched on age recruited in the 6 participating countries. The investigators make the assumption that 3 blood sampling will be necessary during the first year and 6 monthly sampling thereafter. For measuring hormones and neuropeptides (ghrelin, insulin, leptin, pancreatic polypeptide, oxytocin, cortisol, melatonin, orexin A, GLP-1 and PYY) involved in feeding and appetite regulation the investigators will use primarily multiplex microplates technics requiring 50-200µl of sample. Intragroup and intergroup comparisons will be performed in order to describe the evolution of each hormone with time and to compare data obtained in the PWS group with those obtained in the control group.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Infants with PWS | Experimental | Blood samples for the bank in link with a multicenter database including clinical data on birth, auxology, endocrine functions and feeding behaviour |
|
| control group | Other | Blood samples for the bank in children hospitalized for a planned surgery for malformation, orthopaedic or visceral surgery |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| blood samples | Other | blood samples for the bank |
|
| Measure | Description | Time Frame |
|---|---|---|
| Levels of hormones and neuropeptides | Measure of hormones and neuropeptides (ghrelin, insulin, leptin, pancreatic polypeptide, oxytocin, melatonin, orexins) involved in feeding and appetite regulation | 42 months |
| Measure | Description | Time Frame |
|---|---|---|
| Correlation between hormones and neuropeptides levels | study the correlation between ghrelin, insulin, leptin, pancreatic polypeptide, oxytocin, melatonin, orexins | 42 months |
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Inclusion Criteria (PWS infants cohort)
Exclusion Criteria (PWS infants cohort)
Inclusion Criteria (control group)
Exclusion Criteria (control group)
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| Name | Affiliation | Role |
|---|---|---|
| Maithe TAUBER, MD | University Hospital, Toulouse | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Unité d'Endocrinologie Pédiatrique / Université Catholique de Louvain | Brussels | 1200 | Belgium | |||
| Department of Pediatrics / Division of Endocrinology |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 24406482 | Background | Cadoudal T, Buleon M, Sengenes C, Diene G, Desneulin F, Molinas C, Eddiry S, Conte-Auriol F, Daviaud D, Martin PG, Bouloumie A, Salles JP, Tauber M, Valet P. Impairment of adipose tissue in Prader-Willi syndrome rescued by growth hormone treatment. Int J Obes (Lond). 2014 Sep;38(9):1234-40. doi: 10.1038/ijo.2014.3. Epub 2014 Jan 10. | |
| 27146407 |
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| ID | Term |
|---|---|
| D011218 | Prader-Willi Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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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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| Toulouse |
| Haute-Garonne |
| 31000 |
| France |
| Department of Endocrinology / University Children's Hospital | Essen | Germany |
| Department of Pediatrics / Division of Endocrinology / Erasmus University Medical Center / Sophia Children's Hospital Rotterdam | Rotterdam | 3015 GJ | Netherlands |
| Karolinska University Hospital | Stockholm | Sweden |
| Metabolic & Molecular Imaging Group / MRC Clinical Sciences Centre / Imperial College London / Hammersmith Hospital | London | W12 0NN | United Kingdom |
| Beauloye V, Diene G, Kuppens R, Zech F, Winandy C, Molinas C, Faye S, Kieffer I, Beckers D, Nergardh R, Hauffa B, Derycke C, Delhanty P, Hokken-Koelega A, Tauber M. High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome. Orphanet J Rare Dis. 2016 May 4;11(1):56. doi: 10.1186/s13023-016-0440-0. |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |
| D009765 | Obesity |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |