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Trial Title:
National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
NCT ID:
NCT05563831
Condition:
PIK3CA-related Overgrowth Spectrum
CLOVES Syndrome
Klippel Trenaunay Syndrome
Megalencephaly
MCAP
Macrodactyly
Vascular Malformations
Lymphatic Malformation
Venous Malformation
Conditions: Official terms:
Lymphangioma
Megalencephaly
Vascular Malformations
Klippel-Trenaunay-Weber Syndrome
Lymphatic Abnormalities
Congenital Abnormalities
Syndrome
Conditions: Keywords:
PIK3CA
Related Overgrowth Syndrome
PIK3CA/AKT/mTOR pathway
clinical diagnosis
Biobank
Patient Stratification
Study type:
Observational
Overall status:
Recruiting
Study design:
Time perspective:
Other
Intervention:
Intervention type:
Other
Intervention name:
national registry
Description:
The investigators will collect demographic, clinical, biological and imaging
characteristics of patients with PROS.
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.
Criteria for eligibility:
Study pop:
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.
Sampling method:
Non-Probability Sample
Criteria:
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
Gender:
All
Minimum age:
N/A
Maximum age:
N/A
Healthy volunteers:
No
Locations:
Facility:
Name:
Translational medicine and Targeted therapies unit, Hôpital Necker Enfants Malades
Address:
City:
Paris
Zip:
75015
Country:
France
Status:
Recruiting
Contact:
Last name:
Guillaume Canaud, MD, PHD
Phone:
+33144494976
Email:
guillaume.canaud@inserm.fr
Investigator:
Last name:
Nadia Bahi-Buisson, MD, PHD
Email:
Sub-Investigator
Start date:
February 21, 2023
Completion date:
December 31, 2028
Lead sponsor:
Agency:
Institut National de la Santé Et de la Recherche Médicale, France
Agency class:
Other
Source:
Institut National de la Santé Et de la Recherche Médicale, France
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT05563831
