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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04768803
Other study ID # RC31/19/0176
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date June 10, 2021
Est. completion date December 15, 2023

Study information

Verified date August 2023
Source University Hospital, Toulouse
Contact Nadege ALGANS
Phone 0561777204
Email algans.n@chu-toulouse.fr
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial Summary

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.


Description:

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.


Recruitment information / eligibility

Status Recruiting
Enrollment 300
Est. completion date December 15, 2023
Est. primary completion date December 15, 2023
Accepts healthy volunteers No
Gender All
Age group 3 Years to 50 Years
Eligibility Inclusion Criteria: - 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. Exclusion Criteria: - Administrative problems: impossibility of giving parents or legal guardians informed information ; no coverage by a Social Security scheme.

Study Design


Intervention

Biological:
acylated and unacylated ghrelin dosages
realization of plasma samples to evaluate of levels of ghrelin and collection of plasma and cells

Locations

Country Name City State
France 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 Paris
France Tauber Toulouse

Sponsors (1)

Lead Sponsor Collaborator
University Hospital, Toulouse

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Primary Levels of ghrelin in blood sample dosage of ghrelin (pmol /l) Day 1
Secondary Overeating Dykens overeating questionnaire Day 1
Secondary Overeating eating behavior assessment scale Day 1
Secondary Behavioral disorder description CBCL questionnaire for patients under 18 years old Day 1
Secondary Behavioral disorder description Developmental Behavior Checklist-Adult questionnaire for patients over 18 years old Day 1
Secondary Social vulnerability of parents and / or legal guardians EPICES questionnaire (Assessment of Precariousness and Health Inequalities for the Health Examination Centers). Day 1
Secondary Family quality of life (for patients under 18) Parental-Developmental Disabilities Quality of Life questionnaire Day1
Secondary Burden of parents and / or legal guardians ZBI questionnaire (Zarit Burden Interview). Day 1
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