Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity (HOGRID)
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|ClinicalTrials.gov Identifier: NCT04768803|
Recruitment Status : Unknown
Verified February 2021 by University Hospital, Toulouse.
Recruitment status was: Not yet recruiting
First Posted : February 24, 2021
Last Update Posted : February 24, 2021
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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.
|Condition or disease||Intervention/treatment|
|Angelman Syndrome Smith-Magenis Syndrome X Fragile Syndrome Epilepsy Prader-Willi Syndrome||Biological: acylated and unacylated ghrelin dosages|
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.
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||300 participants|
|Target Follow-Up Duration:||1 Day|
|Official Title:||Circulating Levels of Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and / or Overweight, and / or Obesity|
|Estimated Study Start Date :||March 15, 2021|
|Estimated Primary Completion Date :||March 15, 2021|
|Estimated Study Completion Date :||March 15, 2022|
- Biological: acylated and unacylated ghrelin dosages
realization of plasma samples to evaluate of levels of ghrelin and collection of plasma and cells
- Levels of ghrelin in blood sample [ Time Frame: Day 1 ]dosage of ghrelin (pmol /l)
- Overeating [ Time Frame: Day 1 ]Dykens overeating questionnaire
- Overeating [ Time Frame: Day 1 ]eating behavior assessment scale
- Behavioral disorder description [ Time Frame: Day 1 ]CBCL questionnaire for patients under 18 years old
- Behavioral disorder description [ Time Frame: Day 1 ]Developmental Behavior Checklist-Adult questionnaire for patients over 18 years old
- Social vulnerability of parents and / or legal guardians [ Time Frame: Day 1 ]EPICES questionnaire (Assessment of Precariousness and Health Inequalities for the Health Examination Centers).
- Family quality of life (for patients under 18) [ Time Frame: Day1 ]Parental-Developmental Disabilities Quality of Life questionnaire
- Burden of parents and / or legal guardians [ Time Frame: Day 1 ]ZBI questionnaire (Zarit Burden Interview).
Biospecimen Retention: Samples Without DNA
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|Ages Eligible for Study:||3 Years to 50 Years (Child, Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- Patients with one of the following rare diseases associated with : Angelman syndrome, Smith-Magenis syndrome, X Fragile syndrome, rare diseases of the cerebellum, rare epilepsies, PW-like syndromes or other rare diseases with eating disorders
- Patients aged minimum 3 years and maximum 50 years.
- Patients with overweight (or obesity) and/or hyperphagic behavior.
- Administrative problems: impossibility of giving parents or legal guardians informed information ; no coverage by a Social Security scheme.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04768803
|Contact: Nadege ALGANSfirstname.lastname@example.org|
|Principal Investigator:||Maithé TAUBER, MD||University Hospital, Toulouse|
|Responsible Party:||University Hospital, Toulouse|
|Other Study ID Numbers:||
|First Posted:||February 24, 2021 Key Record Dates|
|Last Update Posted:||February 24, 2021|
|Last Verified:||February 2021|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||No|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Signs and Symptoms, Digestive