Observing metabolic profiles in patients with imprinting disorders
National Cohort on Imprinting Disorders and Their Metabolic Consequences
This study looks at the metabolic health of people, both adults and children, with imprinting disorders to see if there are common patterns and how these conditions affect their overall health.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2000 (estimated) |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 20 sites (Angers and 19 other locations) |
| Trial ID | NCT05945576 on ClinicalTrials.gov |
What this trial studies
This observational study aims to describe the natural history of imprinting disorders (IDs) by analyzing the metabolic profiles of affected patients, both adults and children. It seeks to identify common metabolic characteristics across various IDs, assess the impact of these disorders on metabolic health, and explore potential therapeutic approaches. Participants will be recruited from partner centers, and informed consent will be obtained from all subjects. The study will focus on conditions such as Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, and others.
Who should consider this trial
Good fit: Ideal candidates include both adults and children diagnosed with any imprinting disorder, regardless of disease severity.
Not a fit: Patients without a confirmed diagnosis of an imprinting disorder will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance the understanding of metabolic risks associated with imprinting disorders and improve clinical classification and prognosis.
How similar studies have performed: While there have been studies on individual imprinting disorders, this comprehensive approach to analyzing metabolic profiles across multiple IDs is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Angers and 19 other locations
- CHU d'Angers — Angers, France (Not_yet_recruiting)
- Hôpital Jean Minjoz — Besançon, France (Not_yet_recruiting)
- Hôpital Gabriel Montpied — Clermont-Ferrand, France (Not_yet_recruiting)
- Hôpital Bicêtre — Le Kremlin-Bicêtre, France (Recruiting)
- Hôpital Jeanne de Flandre — Lille, France (Not_yet_recruiting)
- Hôpital de la mère et de l'enfant — Limoges, France (Not_yet_recruiting)
- Hôpital Femme Mère Enfant — Lyon, France (Not_yet_recruiting)
- Hôpital de la Timone — Marseille, France (Recruiting)
- Hôpital Brabois — Nancy, France (Not_yet_recruiting)
- Hôpital enfant-adolescent — Nantes, France (Not_yet_recruiting)
- Hôpital Armand-Trousseau — Paris, France (Recruiting)
- Hôpital de la Pitié-Salpêtrière — Paris, France (Recruiting)
- Hôpital de la Pitié-Salpêtrière — Paris, France (Recruiting)
- Hôpital Necker Enfants Malades — Paris, France (Recruiting)
- Hôpital Robert Debré — Paris, France (Not_yet_recruiting)
- Hôpital Sud — Rennes, France (Recruiting)
- Hôpital Civil — Strasbourg, France (Not_yet_recruiting)
- Hôpital des Enfants — Toulouse, France (Recruiting)
- Hôpital des Enfants — Toulouse, France (Not_yet_recruiting)
- Hôpital Bretonneau — Tours, France (Not_yet_recruiting)
Study contacts
- Principal investigator: Agnès LINGLART — Inserm U1169
- Study coordinator: Agnès LINGLART
- Email: agnes.linglart@aphp.fr
- Phone: +33 1 45 21 78 53
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.