Observing metabolic profiles in patients with imprinting disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Hôpital Bicêtre
  Le Kremlin-Bicêtre, France Recruiting
• Hôpital de la Timone
  Marseille, France 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

Study contacts

• Principal investigator: Agnès LINGLART — Inserm U1169
• Study coordinator: Agnès LINGLART
• Email: agnes.linglart@aphp.fr
• Phone: +33 1 45 21 78 53

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.