Examining ghrelin levels in patients with rare diseases and obesity-related issues

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

Observational University Hospital, Toulouse · NCT04768803

This study is testing if people with certain rare diseases and obesity-related issues have higher levels of the hunger hormone ghrelin compared to those with Prader-Willi Syndrome.

Quick facts

Study typeObservational
Enrollment300 (estimated)
Ages3 Years to 50 Years
SexAll
SponsorUniversity Hospital, Toulouse Academic / other
Locations2 sites (Paris and 1 other locations)
Trial IDNCT04768803 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate the levels of ghrelin, a hormone associated with hunger, in patients with rare diseases that include intellectual disabilities and conditions like hyperphagia, overweight, or obesity. It focuses on conditions such as Angelman Syndrome, Smith-Magenis Syndrome, X Fragile Syndrome, and Prader-Willi Syndrome. Participants will undergo a single visit for blood sampling to measure ghrelin levels and complete questionnaires for data collection. The study seeks to determine if ghrelin levels are elevated in these patients similar to those observed in Prader-Willi Syndrome.

Who should consider this trial

Good fit: Ideal candidates include patients aged 3 to 50 years with rare diseases associated with hyperphagia and/or obesity.

Not a fit: Patients who do not have one of the specified rare diseases or are outside the age range may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of ghrelin's role in obesity and eating disorders among patients with rare diseases, potentially leading to better management strategies.

How similar studies have performed: While the study focuses on a specific population, previous research has shown that ghrelin levels are significant in obesity-related conditions, suggesting potential for success in this novel approach.

Eligibility criteria

Show full inclusion / exclusion criteria
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.

Where this trial is running

Paris and 1 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Angelman SyndromeSmith-Magenis SyndromeX Fragile SyndromeEpilepsyPrader-Willi Syndrome
Last reviewed 2026-06-10 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.