Angelman SyndromeHOGRIDNCT04768803
Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity
An observational study of Angelman Syndrome and Smith-Magenis Syndrome, run by University Hospital, Toulouse at 2 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 to 50 years
- Conditions the study is for
- Angelman Syndrome, Smith-Magenis Syndrome, X Fragile Syndrome
- What is being tested?
- acylated and unacylated ghrelin dosages
- How many people
- 300 participants
- Where
- 2 sitesFrance
- Study dates
- 10 Jun 2021to 15 Dec 2023
- How long will I take part?
- 1 Day
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: patients infants and adults presenting a rare disease with overweight and hyperphagic behavior
Who may be able to join
- 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.
Who cannot join
- Administrative problems: impossibility of giving parents or legal guardians informed information ; no coverage by a Social Security scheme.
Trial locations and contacts
2 sites in 1 country.
France2 sites, 2 recruiting
- 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
Paris
- Recruiting
Tauber
Toulouse
About this study
Official title: 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.
Read the 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.
- Conditions
- Angelman Syndrome, Smith-Magenis Syndrome, X Fragile Syndrome, Epilepsy, Prader-Willi Syndrome
- Being tested
- acylated and unacylated ghrelin dosages
- Medical subject headings
- Angelman Syndrome, Smith-Magenis Syndrome, Fragile X Syndrome, Epilepsy, Prader-Willi Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
acylated and unacylated ghrelin dosagesBiological
realization of plasma samples to evaluate of levels of ghrelin and collection of plasma and cells
What is being measured
The primary outcome is the main question the study is designed to answer.
Levels of ghrelin in blood sample
dosage of ghrelin (pmol /l)
Measured: Day 1
Secondary outcomes (7)
Overeating
Dykens overeating questionnaire
Measured: Day 1
Overeating
eating behavior assessment scale
Measured: Day 1
Behavioral disorder description
CBCL questionnaire for patients under 18 years old
Measured: Day 1
Behavioral disorder description
Developmental Behavior Checklist-Adult questionnaire for patients over 18 years old
Measured: Day 1
Social vulnerability of parents and / or legal guardians
EPICES questionnaire (Assessment of Precariousness and Health Inequalities for the Health Examination Centers).
Measured: Day 1
Family quality of life (for patients under 18)
Parental-Developmental Disabilities Quality of Life questionnaire
Measured: Day1
Burden of parents and / or legal guardians
ZBI questionnaire (Zarit Burden Interview).
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Feb 2021
- Study start10 Jun 2021
- Primary completion15 Dec 2023 (estimated)
- Study completion15 Dec 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
- Target duration
- 1 Day
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Maithé TAUBER, MD, Principal investigator, University Hospital, Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04768803
- Sponsor's protocol ID
- RC31/19/0176
- Acronym
- HOGRID
- Status last verified
- Aug 2023
- First submitted
- 16 Feb 2021
- Last updated
- 24 Aug 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Circulating Levels of Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and / or Overweight, and / or Obesity
- ClinicalTrials.gov ID
- NCT04768803
- Acronym / sponsor ID
- HOGRID / RC31/19/0176
- Conditions
- Angelman Syndrome, Smith-Magenis Syndrome, X Fragile Syndrome, Epilepsy, Prader-Willi Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- 10 Jun 2021 (actual)
- Primary completion
- 15 Dec 2023 (estimated)
- Study completion
- 15 Dec 2023 (estimated)
- First posted
- 24 Feb 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 1 Day
Who may qualify
- Ages
- 3 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- patients infants and adults presenting a rare disease with overweight and hyperphagic behavior
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Administrative problems: impossibility of giving parents or legal guardians informed information ; no coverage by a Social Security scheme.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| acylated and unacylated ghrelin dosagesrealization of plasma samples to evaluate of levels of ghrelin and collection of plasma and cells | Biological | – |
Primary outcome
Levels of ghrelin in blood sample
Time frame: Day 1
dosage of ghrelin (pmol /l)
7 secondary outcomes
Overeating
Time frame: Day 1
Overeating
Time frame: Day 1
Behavioral disorder description
Time frame: Day 1
Behavioral disorder description
Time frame: Day 1
Social vulnerability of parents and / or legal guardians
Time frame: Day 1
Family quality of life (for patients under 18)
Time frame: Day1
Burden of parents and / or legal guardians
Time frame: Day 1
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Aug 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Maithé TAUBER, MD principal investigator
University Hospital, Toulouse
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Angelman Syndrome and Smith-Magenis Syndrome, run by University Hospital, Toulouse at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 24 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Nadege ALGANS (0561777204, algans.n@chu-toulouse.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Levels of ghrelin in blood sample (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Aug 2023.