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NCT Number: NCT05563831

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.

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Key information

Conditions

PIK3CA-related Overgrowth Spectrum Angiomatosis CLOVES Syndrome Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Genetic Diseases, Inborn Hemic and Lymphatic Diseases Hereditary Sensory and Autonomic Neuropathies Heredodegenerative Disorders, Nervous System Klippel Trenaunay Syndrome Klippel-Trenaunay-Weber Syndrome Lymphatic Abnormalities Lymphatic Diseases Lymphatic Malformation MCAP Macrodactyly Malformations of Cortical Development Malformations of Cortical Development, Group I Megalencephaly Megalodactyly Musculoskeletal Abnormalities Musculoskeletal Diseases Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies Vascular Diseases Vascular Malformations Venous Malformation

Sex eligibility

All sexes

Study type

Observational

Primary location

Translational medicine and Targeted therapies unit, Hôpital Necker Enfants Malades

Paris, 75015, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • Person subject to a judicial safeguard measure
  • Inability to give informed consent

Treatment and study plan

national registry

Other

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

Primary outcomes

  1. Description of patients with overgrowth syndromes

    Time frame: 5 years

    Clinical and molecular characterization of patients with overgrowth syndromes will be performed.

Secondary outcomes

  1. Prevalence of overgrowth syndromes in France

    Time frame: 5 years

    An estimation of the prevalence of overgrowth syndromes in France will be done

  2. 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)

  3. 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.

  4. 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.

Sponsors and collaborators

Lead sponsor

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

Other Gov

Registry information

Official study title

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

Acronym: COSY

Important dates

Study start
2023
Primary completion
2023
Study completion
2023
First posted
Oct 3, 2022
Registry last updated
Feb 23, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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