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

April 6, 2023 updated by: Institut National de la Santé Et de la Recherche Médicale, France

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

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 Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Anticipated)

2500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
      • Paris, France, 75015
        • Recruiting
        • Translational medicine and Targeted therapies unit, Hôpital Necker Enfants Malades
        • Contact:
        • Sub-Investigator:
          • Nadia Bahi-Buisson, MD, PHD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

All patients with overgrowth syndrome referred by their doctors or patients who have sent a consultation request to the Reference Center (https://hopital-necker.aphp.fr/contacts-cloves) will be enrolled.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Description of patients with overgrowth syndromes
Time Frame: 5 years
Clinical and molecular characterization of patients with overgrowth syndromes will be performed.
5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Prevalence of overgrowth syndromes in France
Time Frame: 5 years
An estimation of the prevalence of overgrowth syndromes in France will be done
5 years
Biobanking of samples derived from patients with overgrowth syndromes
Time Frame: 5 years
A biobank will be created with biological samples (plasma) collected for research and residual biological samples from patient cares (treatment/diagnosis)
5 years
Description of patient cares: mumber of consultations and hospitalizations, number of treatment lines, grouping of patients by type of course (clusters)
Time Frame: 5 years
An analysis of care trajectories will be performed. These data will be collected from health insurance databases for patients with overgrowth syndromes.
5 years
Economic evaluation of cares for patients with overgrowth syndromes: cost of care, per period and cumulative.
Time Frame: 5 years
SDNS data will be used to estimate care costs per year for patients with overgrowth syndrome.
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Investigators

  • Principal Investigator: Guillaume Canaud, MD,PHD, Institut National de la Santé Et de la Recherche Médicale, France

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 21, 2023

Primary Completion (Anticipated)

December 31, 2027

Study Completion (Anticipated)

December 31, 2028

Study Registration Dates

First Submitted

July 28, 2022

First Submitted That Met QC Criteria

September 28, 2022

First Posted (Actual)

October 3, 2022

Study Record Updates

Last Update Posted (Actual)

April 7, 2023

Last Update Submitted That Met QC Criteria

April 6, 2023

Last Verified

April 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • C20-09

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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