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

NCT05563831 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 28

Last updated 2026-02-23

No results posted yet for this study

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.

Conditions

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

Interventions

OTHER

national registry

The investigators will collect demographic, clinical, biological and imaging characteristics of patients with PROS.

Sponsors & Collaborators

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

    lead OTHER_GOV

Principal Investigators

  • Guillaume Canaud, MD,PHD · Institut National de la Santé Et de la Recherche Médicale, France

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-02-21
Primary Completion
2023-06-07
Completion
2023-06-07

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05563831 on ClinicalTrials.gov