National registry for patients with PIK3CA-related overgrowth syndromes
Evaluation Nationale Des Enfants et Adultes Avec Syndromes d'Hypercroissance Dysharmonieuse National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
This study is creating a national registry in France to collect information about people with PIK3CA-related overgrowth syndromes, like CLOVES and Klippel Trenaunay Syndromes, to better understand these rare conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2500 (estimated) |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 1 site (Paris) |
| Trial ID | NCT05563831 on ClinicalTrials.gov |
What this trial studies
This study aims to create the first national registry in France for patients diagnosed with PIK3CA-related overgrowth syndromes, including conditions like CLOVES Syndrome and Klippel Trenaunay Syndrome. It focuses on understanding the prevalence and clinical characteristics of these rare genetic disorders, which are linked to mutations in the PIK3CA/AKT/mTOR pathway. The registry will collect data from both pediatric and adult patients who meet specific inclusion criteria, allowing for a comprehensive evaluation of these syndromes. The study is observational and does not involve any treatment interventions.
Who should consider this trial
Good fit: Ideal candidates for this study are pediatric and adult patients with a clinical diagnosis of an overgrowth syndrome who are affiliated with the French healthcare insurance system.
Not a fit: Patients who are unable to provide informed consent or are subject to judicial safeguard measures may not benefit from this study.
Why it matters
Potential benefit: If successful, this registry could enhance understanding of PIK3CA-related overgrowth syndromes, leading to improved diagnosis and management for affected patients.
How similar studies have performed: While this approach is novel in the context of a national registry for these specific syndromes, similar registries for other rare diseases have shown success in improving patient outcomes and understanding of the conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Affiliated to the French healthcare insurance system. 2. Pediatric and adult patients 3. Clinical diagnosis of overgrowth syndrome 4. Written informed consent from adult patients and from both parents of pediatric patients. Exclusion Criteria: 1. Person subject to a judicial safeguard measure 2. Inability to give informed consent
Where this trial is running
Paris
- Translational medicine and Targeted therapies unit, Hôpital Necker Enfants Malades — Paris, France (Recruiting)
Study contacts
- Principal investigator: Guillaume Canaud, MD,PHD — Institut National de la Santé Et de la Recherche Médicale, France
- Study coordinator: Guillaume GC Canaud, MD,PHD
- Email: guillaume.canaud@inserm.fr
- Phone: 0140615425
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.