Spots Global Cancer Trial Database for National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)

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Trial Identification

Brief Title: National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)

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

Study ID: NCT05563831

Conditions

PIK3CA-related Overgrowth Spectrum

CLOVES Syndrome

Klippel Trenaunay Syndrome

Megalencephaly

MCAP

Macrodactyly

Vascular Malformations

Lymphatic Malformation

Venous Malformation

Interventions

national registry

Study Description

Brief 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.