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

NCT ID: NCT04768803

Last Updated: 2023-08-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-06-10

Study Completion Date

2023-12-15

Brief Summary

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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.

Detailed Description

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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 (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.

Conditions

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Angelman Syndrome Smith-Magenis Syndrome X Fragile Syndrome Epilepsy Prader-Willi Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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acylated and unacylated ghrelin dosages

realization of plasma samples to evaluate of levels of ghrelin and collection of plasma and cells

Intervention Type BIOLOGICAL

Eligibility Criteria

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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.
Minimum Eligible Age

3 Years

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Toulouse

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Maithé TAUBER, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Toulouse

Locations

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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

Site Status RECRUITING

Tauber

Toulouse, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Nadege ALGANS

Role: CONTACT

0561777204

Other Identifiers

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RC31/19/0176

Identifier Type: -

Identifier Source: org_study_id

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