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

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

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.

Study Overview

• Status: Recruiting
• Conditions: Epilepsy; Prader-Willi Syndrome; Angelman Syndrome; Smith-Magenis Syndrome; X Fragile Syndrome
• Intervention / Treatment: 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 Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Nadege ALGANS; Phone Number: 0561777204; Email: algans.n@chu-toulouse.fr

Study Locations

• France
  • Paris, France
    • Recruiting
    • 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
  • Toulouse, France
    • Recruiting
    • Tauber

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 48 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

patients infants and adults presenting a rare disease with overweight and hyperphagic behavior

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Levels of ghrelin in blood sample	dosage of ghrelin (pmol /l)	Day 1

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Overeating	Dykens overeating questionnaire	Day 1
Overeating	eating behavior assessment scale	Day 1
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

Collaborators and Investigators

• Sponsor: University Hospital, Toulouse
• Investigators: Principal Investigator: Maithé TAUBER, MD, University Hospital, Toulouse

Study record dates

Study Major Dates

• Study Start (Actual): June 10, 2021
• Primary Completion (Estimated): December 15, 2023
• Study Completion (Estimated): December 15, 2023

Study Registration Dates

• First Submitted: February 16, 2021
• First Submitted That Met QC Criteria: February 23, 2021
• First Posted (Actual): February 24, 2021

Study Record Updates

• Last Update Posted (Actual): August 24, 2023
• Last Update Submitted That Met QC Criteria: August 22, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease Attributes; Disease; Congenital Abnormalities; Signs and Symptoms, Digestive; Overnutrition; Nutrition Disorders; Body Weight; Genetic Diseases, Inborn; Movement Disorders; Neurodevelopmental Disorders; Abnormalities, Multiple; Chromosome Disorders; Obesity; Chronobiology Disorders; Syndrome; Overweight; Prader-Willi Syndrome; Intellectual Disability; Rare Diseases; Angelman Syndrome; Hyperphagia; Smith-Magenis Syndrome
• Other Study ID Numbers: RC31/19/0176

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No