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A significantly higher proportion of patients with rare diseases (RD) with intellectual disability (ID), present hyperphagia, overweight or obesity, compared to the general population. Prader-Willi syndrome is the only genetic obesity identified to date associated with hyperghrelinemia, while ghrelin levels are lower than in controls in other situations of obesity.
The aim of the study is to find out whether the levels of ghrelin, which are abnormally high in PWS throughout life, are also high in these RD when people have hyperphagia and/or overweight.
A significantly higher proportion of patients with rare diseases (RD) with intellectual disability (ID), present hyperphagia, overweight or obesity, compared to the general population. Prader-Willi Syndrome (PWS) and related syndromes (PWS-like) represent the most well-known causes of eating disorders with early and severe obesity. Other known RD with ID have been described as being associated with eating disorders with overweight or obesity, which appear later in adolescence : Angelman's syndrome (approximately 40% of patients are overweight or obese, and 32% of children have hyperphagia), Fragile X syndrome (over 30% are obese), Smith-Magenis syndrome (50 to 60% are obese). Prader-Willi syndrome is the only genetic obesity identified to date associated with hyperghrelinemia, while ghrelin levels are lower than in controls in other situations of obesity.
The aim of the study is to find out whether the levels of ghrelin, which are abnormally high in PWS throughout life, are also high in these pathologies when people have hyperphagia and/or overweight.
The study involves a single visit carried out during a routine follow-up in the CRMR, in which the blood sample will allow the dosage of the ghrelin hormon. The visit will also involves a data collection and some questionnaires.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| acylated and unacylated ghrelin dosages | Biological | realization of plasma samples to evaluate of levels of ghrelin and collection of plasma and cells |
| Measure | Description | Time Frame |
|---|---|---|
| Levels of ghrelin in blood sample | dosage of ghrelin (pmol /l) | Day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Overeating | Dykens overeating questionnaire | Day 1 |
| Overeating | eating behavior assessment scale | Day 1 |
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Inclusion Criteria:
Exclusion Criteria:
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patients infants and adults presenting a rare disease with overweight and hyperphagic behavior
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Nadege ALGANS | Contact | 0561777204 | algans.n@chu-toulouse.fr |
| Name | Affiliation | Role |
|---|---|---|
| Maithé TAUBER, MD | University Hospital, Toulouse | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre N°1 : 40 Centre de Référence PRADORT Pr Tauber - Toulouse Centre N°2 : 22 Centre de Référence PRADORT Pr Poitou Bernert - Paris La Pitié Salpetrière Centre N°3 : 15 Centre de Référence DI de causes rares Dr Heron - Paris La Pitié Salpêtrière Centr | Recruiting | Paris |
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collection de plasma et cellules sanguines
| Behavioral disorder description | CBCL questionnaire for patients under 18 years old | Day 1 |
| Behavioral disorder description | Developmental Behavior Checklist-Adult questionnaire for patients over 18 years old | Day 1 |
| Social vulnerability of parents and / or legal guardians | EPICES questionnaire (Assessment of Precariousness and Health Inequalities for the Health Examination Centers). | Day 1 |
| Family quality of life (for patients under 18) | Parental-Developmental Disabilities Quality of Life questionnaire | Day1 |
| Burden of parents and / or legal guardians | ZBI questionnaire (Zarit Burden Interview). | Day 1 |
| France |
| Tauber | Recruiting | Toulouse | France |
| ID | Term |
|---|---|
| D017204 | Angelman Syndrome |
| D058496 | Smith-Magenis Syndrome |
| D005600 | Fragile X Syndrome |
| D004827 | Epilepsy |
| D011218 | Prader-Willi Syndrome |
| ID | Term |
|---|---|
| D009069 | Movement Disorders |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |
| D021081 | Chronobiology Disorders |
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D025064 | Sex Chromosome Disorders |
| D040181 | Genetic Diseases, X-Linked |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D001927 | Brain Diseases |
| D009765 | Obesity |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
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