National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) — COSY  

Vascular Malformations Clinical Trial

Official title: Evaluation Nationale Des Enfants et Adultes Avec Syndromes d'Hypercroissance Dysharmonieuse National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)

Status Recruiting

Clinical Trial 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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

• CLOVES Syndrome
• Congenital Abnormalities
• Klippel Trenaunay Syndrome
• Lymphangioma
• Lymphatic Abnormalities
• Lymphatic Malformation
• Syndrome
• Vascular Malformations
• Venous Malformation

• NCT number: NCT05563831
• Study type: Observational
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Contact: Guillaume GC Canaud, MD,PHD
• Phone: 0140615425
• Email: guillaume.canaud@inserm.fr
• Status: Recruiting
• Start date: February 21, 2023
• Completion date: December 31, 2028