An observational study in Angelman Syndrome, Smith-Magenis Syndrome and X Fragile Syndrome, sponsored by University Hospital, Toulouse. Recruiting at 2 sites in France. Open to participants aged 3 Years to 50 Years. Per ClinicalTrials.gov, last updated 2023-08-24.
Sponsored by University Hospital, Toulouse · Observational
Among 10 studies in Angelman Syndrome with a site in France — 3 open to participants now, 4 under way, none of them phase 3. Angelman Syndrome · France.
Among the 10 studies in Angelman Syndrome with a site in France, this one is one of 2 that started in 2021, is one of 4 observational ones, and was the 4th registered.
52 studies on the registry are indexed under Angelman Syndrome; 16 are open to participants now.
Browse Angelman Syndrome studies →3 of the 10 studies in Angelman Syndrome with a site in France are open now. Recruiting first, the newest first:
Assistance Publique - Hôpitaux de Paris · Sites in France
Institut National de la Santé Et de la Recherche Médicale, France · Sites in France
A study can be open while its sites in France have not opened yet or have stopped. Only those recruiting at a site in France →
Of the 14 Angelman Syndrome studies recruiting now, 6 (43%) set no upper age limit and 7 (50%) stop at 75 or younger; 14 take children under 18; 0 take healthy volunteers.
This study: 3 Years to 50 Years · all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
10 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 2 · Phase 2 4 · Phase 3 2
First in 2007; this study’s year is marked. 2 started in 2021.
This study's planned enrollment of 300 is above the median of 120 across 21 observational studies indexed under Angelman Syndrome.
Median enrollment 69 across the 6 interventional studies, 421 across the 4 observational. Of the 6 that completed or were terminated, 1 (17%) have results posted.
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6 of 10 have an industry lead sponsor. The 7 most frequent:
University Hospital, Toulouse is the lead sponsor of 807 studies on the registry; 209 are open to participants now.
University Hospital, Toulouse has 1 study filed under Angelman Syndrome — fewer than ten, so there is no comparison to draw.
1 of the studies in Angelman Syndrome with a site in France that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06737718Assistance Publique - Hôpitaux de ParisUse of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome | 2027-02 |
Among the 10 studies in Angelman Syndrome with a site in France, from their registry updates:
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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.
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.
patients infants and adults presenting a rare disease with overweight and hyperphagic behavior
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
realization of plasma samples to evaluate of levels of ghrelin and collection of plasma and cells
Levels of ghrelin in blood sample
dosage of ghrelin (pmol /l)
Time frame: Day 1
Overeating
Dykens overeating questionnaire
Time frame: Day 1
Overeating
eating behavior assessment scale
Time frame: Day 1
Behavioral disorder description
CBCL questionnaire for patients under 18 years old
Time frame: Day 1
Behavioral disorder description
Developmental Behavior Checklist-Adult questionnaire for patients over 18 years old
Time frame: Day 1
Social vulnerability of parents and / or legal guardians
EPICES questionnaire (Assessment of Precariousness and Health Inequalities for the Health Examination Centers).
Time frame: Day 1
Family quality of life (for patients under 18)
Parental-Developmental Disabilities Quality of Life questionnaire
Time frame: Day1
Burden of parents and / or legal guardians
ZBI questionnaire (Zarit Burden Interview).
Time frame: Day 1
Plan to share: No
No publications or documents are linked to this record.
Started Jun 2021 (actual). Primary completion is estimated for Dec 2023, 30 months after the start.
How these figures are worked out, and which studies are left out of them.
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University Hospital, Toulouse →