CLOVES Syndrome, Klippel Trenaunay Syndrome, Lymphatic Malformation, Macrodactyly, MCAP, Megalencephaly, PIK3CA-related Overgrowth Spectrum, Vascular Malformations, Venous Malformation
Conditions
Keywords
PIK3CA, Related Overgrowth Syndrome, PIK3CA/AKT/mTOR pathway, clinical diagnosis, Biobank, Patient Stratification
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.
Interventions
OTHERnational registry
The investigators will collect demographic, clinical, biological and imaging characteristics of patients with PROS.
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Description of patients with overgrowth syndromes | 5 years | Clinical and molecular characterization of patients with overgrowth syndromes will be performed. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of overgrowth syndromes in France | 5 years | An estimation of the prevalence of overgrowth syndromes in France will be done |
| Biobanking of samples derived from patients with overgrowth syndromes | 5 years | A biobank will be created with biological samples (plasma) collected for research and residual biological samples from patient cares (treatment/diagnosis) |
| Description of patient cares: mumber of consultations and hospitalizations, number of treatment lines, grouping of patients by type of course (clusters) | 5 years | An analysis of care trajectories will be performed. These data will be collected from health insurance databases for patients with overgrowth syndromes. |
| Economic evaluation of cares for patients with overgrowth syndromes: cost of care, per period and cumulative. | 5 years | SDNS data will be used to estimate care costs per year for patients with overgrowth syndrome. |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORGuillaume Canaud, MD,PHD
Institut National de la Santé Et de la Recherche Médicale, France
Outcome results
None listed