View clinical trials related to Klippel Trenaunay Syndrome.
Filter by: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.
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.
Lymphatic anomalies are a rare subset of vascular anomalies that are poorly understood. the understanding of the natural history, long-term outcomes, risk factors for morbidity and mortality, and the relative benefit of medical therapies and procedures is limited.The goal of this project is to better understand these diseases and improve the care of theses rare patients. To do this, the investigators are conducting an observational study of patients with lymphatic anomalies, including an annual follow-up questionnaire to gather prospective data on mortality, morbidity, treatments, and functionality as well as quality of life.