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

Institut National de la Santé Et de la Recherche Médicale, France

Status: Enrolling

Conditions: Macrodactyly; Klippel Trenaunay Syndrome; CLOVES Syndrome; MCAP; Vascular Malformations; Venous Malformation; Lymphatic Malformation; PIK3CA-related Overgrowth Spectrum; Megalencephaly

Treatments: Other: national registry

Study type: Observational

Funder types: Other

Identifiers

NCT05563831

C20-09

Details and patient eligibility

About

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.

Full 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.

Enrollment: 2,500 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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