NCT04768803

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
300

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jun 2021

Typical duration for all trials

Geographic Reach
1 country

2 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 16, 2021

Completed
8 days until next milestone

First Posted

Study publicly available on registry

February 24, 2021

Completed
4 months until next milestone

Study Start

First participant enrolled

June 10, 2021

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 15, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 15, 2023

Completed
Last Updated

August 24, 2023

Status Verified

August 1, 2023

Enrollment Period

2.5 years

First QC Date

February 16, 2021

Last Update Submit

August 22, 2023

Conditions

Outcome Measures

Primary Outcomes (1)

  • Levels of ghrelin in blood sample

    dosage of ghrelin (pmol /l)

    Day 1

Secondary Outcomes (7)

  • Overeating

    Day 1

  • Overeating

    Day 1

  • Behavioral disorder description

    Day 1

  • Behavioral disorder description

    Day 1

  • Social vulnerability of parents and / or legal guardians

    Day 1

  • +2 more secondary outcomes

Interventions

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

Eligibility Criteria

Age3 Years - 50 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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.

You may not qualify if:

  • Administrative problems: impossibility of giving parents or legal guardians informed information ; no coverage by a Social Security scheme.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

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

RECRUITING

Tauber

Toulouse, France

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

collection de plasma et cellules sanguines

MeSH Terms

Conditions

Angelman SyndromeSmith-Magenis SyndromeFragile X SyndromeEpilepsyPrader-Willi Syndrome

Condition Hierarchy (Ancestors)

Movement DisordersCentral Nervous System DiseasesNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornImprinting DisordersChronobiology DisordersX-Linked Intellectual DisabilityIntellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsSex Chromosome DisordersGenetic Diseases, X-LinkedHeredodegenerative Disorders, Nervous SystemBrain DiseasesObesityOverweightOvernutritionNutrition DisordersNutritional and Metabolic Diseases

Study Officials

  • Maithé TAUBER, MD

    University Hospital, Toulouse

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
1 Day
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 16, 2021

First Posted

February 24, 2021

Study Start

June 10, 2021

Primary Completion

December 15, 2023

Study Completion

December 15, 2023

Last Updated

August 24, 2023

Record last verified: 2023-08

Data Sharing

IPD Sharing
Will not share

Locations