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

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• Affiliated to the French healthcare insurance system.

• Pediatric and adult patients

• Clinical diagnosis of overgrowth syndrome

• Written informed consent from adult patients and from both parents of pediatric patients.

Locations
Other Locations
France
Translational medicine and Targeted therapies unit, Hôpital Necker Enfants Malades
RECRUITING
Paris
Contact Information
Primary
Guillaume GC Canaud, MD,PHD
guillaume.canaud@inserm.fr
0140615425
Backup
Nadia NB BAHI-BUISSON, MD,PHD
nadia.bahi-buisson@aphp.fr
Time Frame
Start Date: 2023-02-21
Estimated Completion Date: 2028-12-31
Participants
Target number of participants: 2500
Sponsors
Leads: Institut National de la Santé Et de la Recherche Médicale, France

This content was sourced from clinicaltrials.gov

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