HOGRID: Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity

Sponsor

University Hospital, Toulouse (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT04768803

Collaborator

(none)

300

Enrollment

Anticipated Duration (Months)

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Angelman Syndrome Smith-Magenis Syndrome X Fragile Syndrome Epilepsy Prader-Willi Syndrome	Biological: acylated and unacylated ghrelin dosages

Detailed 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.

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

300 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Circulating Levels of Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and / or Overweight, and / or Obesity

Anticipated Study Start Date :

Mar 15, 2021

Anticipated Primary Completion Date :

Mar 15, 2021

Anticipated Study Completion Date :

Mar 15, 2022

Outcome Measures

Primary Outcome Measures

Levels of ghrelin in blood sample [Day 1]
dosage of ghrelin (pmol /l)

Secondary Outcome Measures

Overeating [Day 1]
Dykens overeating questionnaire
Overeating [Day 1]
eating behavior assessment scale
Behavioral disorder description [Day 1]
CBCL questionnaire for patients under 18 years old
Behavioral disorder description [Day 1]
Developmental Behavior Checklist-Adult questionnaire for patients over 18 years old
Social vulnerability of parents and / or legal guardians [Day 1]
EPICES questionnaire (Assessment of Precariousness and Health Inequalities for the Health Examination Centers).
Family quality of life (for patients under 18) [Day1]
Parental-Developmental Disabilities Quality of Life questionnaire
Burden of parents and / or legal guardians [Day 1]
ZBI questionnaire (Zarit Burden Interview).

Eligibility Criteria

Criteria

Ages Eligible for Study:

3 Years to 50 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.