ClinicalTrials.gov record NCT05945576
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
National Cohort on Imprinting Disorders and Their Metabolic Consequences
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is an observational cohort that collects clinical, genetic, biological and body-measurement data from children and people with imprinting disorders. The study seeks to describe the natural history of these conditions and to identify metabolic profiles, metabolic risks, and links with genetics. Data are collected at inclusion and over long-term follow-up (outcomes tracked through about 10 years).
What it is studying. The study tests whether imprinting disorders share common metabolic profiles; which specific imprinting disorders affect metabolic profiles; what metabolic risks are associated with these disorders; whether metabolic profiles can help with clinical classification or prognosis; and whether there are shared therapeutic approaches across imprinting disorders.
What the researchers hope to learn. Aims to identify common metabolic profiles across imprinting disorders; determine the prevalence of metabolic abnormalities; estimate long-term risks for obesity, diabetes, cardiovascular disease and metabolic syndrome; describe different therapeutic approaches and seek common management principles; measure changes in quality of life; and analyze (epi)genetic mutation transmission in probands and relatives.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center. The main questions it aims to answer are:
- Can we identify common metabolic profiles for all imprinted diseases?
- Which imprinting disorders have an impact on the metabolic profiles of IDs?
- Which are the metabolic risks associated to IDs?
- Can we use the metabolic profiles for the clinical classification and prognosis of IDs?
- Are there common therapeutic approaches for all IDs?
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Patients (adults and children) affected with an ID regardless of the severity of the disease
- A confirmed diagnosis of ID (based on molecular diagnosis)
- A signed informed consent for adults or signed informed consent of parents/guardians of minors/ protected adult.
- Non-Inclusion Criteria:
- There are no non-inclusion criteria.
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
If you join, the study team will collect clinical and genetic information and record biological and body‑measurement (morphometric) data. You may be asked to complete quality‑of‑life questionnaires and other clinical assessments. Information will be followed over time (the registry indicates about 10 years of follow‑up) and may include analysis of genetic transmission in relatives. Signed informed consent is required before any data are collected.
How the study is structured. An observational cohort study with no experimental treatments. People with molecularly confirmed imprinting disorders give informed consent and have clinical, genetic, biological and morphometric information recorded at enrollment and during follow-up. Outcomes listed include clinical, genetic, biological and body-measurement characteristics followed through about 10 years. The study collects data to analyze metabolic features and their associations with genetics and clinical outcomes.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Angelman syndrome
This trial is also listed on this site under Prader-Willi syndrome.
Important dates
- Study start
- Mar 10, 2017
- Primary completion
- March 2028 (estimated)
- Study completion
- March 2028 (estimated)
- Target enrollment
- 2000 participants (estimated)
- Last updated on registry
- Feb 12, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Agnès LINGLART 📞 +33 1 45 21 78 53 ✉ agnes.linglart@aphp.fr
- Irène NETCHINE ✉ irene.netchine@aphp.fr
Participating sites (20)
- CHU d'AngersNot Yet Recruiting
Angers · France
- Patrice RODIEN
- Hôpital Jean MinjozNot Yet Recruiting
Besançon · France
- Brigitte MIGNOT
- Hôpital Gabriel MontpiedNot Yet Recruiting
Clermont-Ferrand · France
- Igor TAUVERON
- Hôpital BicêtreRecruiting
Le Kremlin-Bicêtre · France
- Agnès LINGLART
- Hôpital Jeanne de FlandreNot Yet Recruiting
Lille · France
- Maryse CARTIGNY
- Hôpital de la mère et de l'enfantNot Yet Recruiting
Limoges · France
- Anne LIENHARDT ROUSSIE
- Hôpital Femme Mère EnfantNot Yet Recruiting
Lyon · France
- Marc NICOLINO
- Hôpital de la TimoneRecruiting
Marseille · France
- Tiffany BUSA
- Hôpital BraboisNot Yet Recruiting
Nancy · France
- Bruno LEHEUP
- Hôpital enfant-adolescentNot Yet Recruiting
Nantes · France
- Sabine BARON
Terms used on this page · explanations by MedicalUpdates.ai
- natural history
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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