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

Epilepsy Clinical Trial

— HOGRID  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04768803
• Other study ID #: RC31/19/0176
• Status: Recruiting
• 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
• 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.

Related Conditions & MeSH terms

• Angelman Syndrome
• Epilepsy
• Hyperphagia
• Intellectual Disability
• Overweight
• Prader-Willi Syndrome
• Rare Diseases
• Smith-Magenis Syndrome
• Syndrome
• X Fragile Syndrome

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