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

Recruiting

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

• Registration Number: NCT05563831
• Lead Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

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.

Study Timeline

• Study First Submitted: 2022-07-28
• Study First Submitted QC: 2022-09-28
• Study First Posted: 2022-10-03
• Study Start: 2023-02-21
• Status Verified: 2023-04
• Last Update Submitted: 2023-04-06
• Last Update Posted: 2023-04-07
• Primary Completion: 2027-12-31
• Study Completion: 2028-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 2500

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Description of patients with overgrowth syndromes	5 years	Clinical and molecular characterization of patients with overgrowth syndromes will be performed.

Secondary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Translational medicine and Targeted therapies unit, Hôpital Necker Enfants Malades; 🇫🇷 Paris, France