Trials / Completed
CompletedNCT05563831
National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
Evaluation Nationale Des Enfants et Adultes Avec Syndromes d'Hypercroissance Dysharmonieuse National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
- Status
- Completed
- Phase
- —
- Study type
- Observational
- Enrollment
- 28 (actual)
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France · Other Government
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
Summary
Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.
Detailed description
Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.
Conditions
- PIK3CA-related Overgrowth Spectrum
- CLOVES Syndrome
- Klippel Trenaunay Syndrome
- Megalencephaly
- MCAP
- Macrodactyly
- Vascular Malformations
- Lymphatic Malformation
- Venous Malformation
Interventions
| Type | Name | Description |
|---|---|---|
| OTHER | national registry | The investigators will collect demographic, clinical, biological and imaging characteristics of patients with PROS. |
Timeline
- Start date
- 2023-02-21
- Primary completion
- 2023-06-07
- Completion
- 2023-06-07
- First posted
- 2022-10-03
- Last updated
- 2026-02-23
Locations
1 site across 1 country: France
Source: ClinicalTrials.gov record NCT05563831. Inclusion in this directory is not an endorsement.