Symptoms and General Pathology

All Conditions

Neoplasms

Diseases and Abnormalities at or Before Birth

Skin and Connective Tissue Diseases

Heart and Blood Diseases

Nervous System Diseases

Rare Diseases

Syndrome

Hemangioma, Capillary

Port-Wine Stain

Klippel-Trenaunay-Weber Syndrome

Sturge-Weber Syndrome

Hemangioma

Infarction

Brain Stem Infarctions

Congenital Abnormalities

Skin Abnormalities

Skin Diseases

Neoplasms, Vascular Tissue

Neoplasms by Histologic Type

Brain Infarction

Ischemia

Brain Ischemia

Cerebrovascular Disorders

Brain Diseases

Central Nervous System Diseases

Stroke

Vascular Diseases

Necrosis

Angiomatosis

Neurocutaneous Syndromes

Klippel-Trenaunay Syndrome

Parkes Weber Syndrome

Weber Syndrome

All Drugs and Chemicals

GTPase-Activating Proteins

Blood sample ( 5 mL) at tne inclusion of the child DNA extraction and genetic analysis of the 24 exons of RASA1 gene after specific consent

search for polymorphisms of RASA1 gene

Violaine MIZZI

Port Wine Stain on a limb can be either isolated or associated with complications (venous or orthopedic impairment, arteriovenous malformations), leading sometimes to complex syndromes (Klippel-Trenaunay syndrome,Parkes-Weber syndrome).

Little is known about epidemiology of port wine stains: their evolution during the growth of the child, the frequency of complications, genetic data, and prognostic factors.

This prospective french national cohort will help for : description of the evolution of port wine stain and possible complications; prognostic factors for complications ; association with mutations of RASA1 gene; quality of life of these children. It will also help for global appreciation of the management of this disease in France.

Prospective national study, including 16 Pediatric and Dermatologic Departments.

Methods : each children with a port wine stain on a lower limb will be followed up for 5 years.

Collected data : demographic data, clinical features, alterations of RASA1 gene, vascular evaluation by ultrasonographic and orthopedic evaluation by X rays, quality of life with a questionnaire.

Inclusion period = 3 years Follow up period = 5 years Population = 150 children

French National Cohort of Children With Port Wine Stain

French National Prospective Cohort of Children With Port Wine Stain on a Limb = "Cohorte Nationale d'Enfants Avec Angiome Plan de Membre inférieur"

Complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain)

University Hospital, Tours

Musculoskeletal Diseases

Hemangioendothelioma

Vascular Malformations

Nevus, Pigmented

Nevus

Osteolysis

Osteolysis, Essential

Cardiovascular Abnormalities

Bone Diseases

Bone Diseases, Developmental

Bone Resorption

CLOVES Syndrome

Kaposiform Hemangioendothelioma

Lymphangiomatosis

Kaposiform Lymphangiomatosis

Gorham's Disease

Endothelial Growth Factors

Mitogens

Timothy LeCras, PhD

Megan Metcalf

Adrienne Hammill, MD, PhD

The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study. The study will also use blood (serum and plasma) and tissue collected and stored in a tissue bank maintained by the Department of Hematology/Oncology.

While vascular anomalies are rare diseases, they can be life-threatening and devastating to affected children and their families. Advances in diagnosis, monitoring and therapies will be significantly improved if non-invasive biomarkers that are sensitive and specific can be identified. Obtaining a tissue biopsy to help in diagnosis can actually worsen the disease and so identification of specific blood biomarkers is highly desirable. Studies will measure angiogenic factors in serum and plasma samples at baseline and on therapy. Tissue removed during surgical resection or blood removed prior to sclerotherapy will be used to obtain cells and tissue for the assessment of where biomarkers are coming from and to identify disease-causing pathways for new therapeutic targeting.

Identification of Biomarkers for Patients With Vascular Anomalies

Lymphangiomatosis and Gorham's Disease Alliance (LGDA)

Klippel Trenaunay (KT) Support Group

CLOVES Syndrome Community Support Group

Children's Hospital Medical Center, Cincinnati

Blood and Lymph Conditions

Lymphangioma

Lymphatic Abnormalities

Megalencephaly

Lymphatic Diseases

Craniofacial Abnormalities

Musculoskeletal Abnormalities

Malformations of Cortical Development

Nervous System Malformations

Lymphatic Malformations

PIK3CA-related Overgrowth Spectrum

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

national registry

Guillaume GC Canaud, MD,PHD

Nadia NB BAHI-BUISSON, MD,PHD

Guillaume Canaud, MD, PHD

Nadia Bahi-Buisson, MD, PHD

Guillaume Canaud, MD,PHD

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.

Biopsies and tissues removed during surgical procedures will be stored in the Department of Pathology of Hôpital Necker-Enfants Malades (authorization CODECOH n° DC-2020-3940 de la Plateforme de Resource Biologique de l'Hôpital Necker-Enfants Malades).

DNA, PBMC and plasma from patients will be stored for further studies. Samples will be stored at the au Centre de Ressources Biologiques de la Structure Fédérative de Recherche Necker (autorisation CODECOH n° DC-2020-3940 du CRB Necker, supervised by Dr. Marie-Alexandra ALYANAKIAN).

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

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

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

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

A biobank will be created with biological samples (plasma) collected for research and residual biological samples from patient cares (treatment/diagnosis)

An analysis of care trajectories will be performed. These data will be collected from health insurance databases for patients with overgrowth syndromes.

SDNS data will be used to estimate care costs per year for patients with overgrowth syndrome.

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

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
French National Cohort of Children With Port Wine Stain	NCT01364857	Port Wine Stain Klippel Trenaun... Parkes Weber Sy...	search for poly...	2 Years - 12 Years	University Hospital, Tours
Identification of Biomarkers for Patients With Vascular Anomalies	NCT03001180	Vascular Anomal... Generalized Lym... Kaposiform Hema... Kaposiform Lymp... Gorham-Stout Di... Klippel Trenaun... Congenital Lipo...		1 Day -	Children's Hospital Medical Center, Cincinnati
National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)	NCT05563831	PIK3CA-related ... CLOVES Syndrome Klippel Trenaun... Megalencephaly MCAP Macrodactyly Vascular Malfor... Lymphatic Malfo... Venous Malforma...	national regist...	-	Institut National de la Santé Et de la Recherche Médicale, France
Identification of Biomarkers for Patients With Vascular Anomalies	NCT03001180	Vascular Anomal... Generalized Lym... Kaposiform Hema... Kaposiform Lymp... Gorham-Stout Di... Klippel Trenaun... Congenital Lipo...		1 Day -	Children's Hospital Medical Center, Cincinnati

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