Active clinical trials for "Genetic Diseases, Inborn"

The goal of this research study is to create an internet-based program designed to improve the communication of health and health history information among family members affected by Lynch syndrome.

Community-acquired pneumonia (CAP) is a heterogeneous disease causing great morbidity, mortality and health care burden globally. Typing methods for discriminating different clinical conditions of the same disease are essential to a better management of CAP. Traditional typing systems based separately on clinical manifestations (such as PSI and CURB-65), pathogens(bacterial types, virulence, drug resistance, etc) or host immune state (immunocompetent, immunocompromised or immunodeficiency). Thus, they are barely able to represent the real disease status nor to precisely predict the mortality. As the development of multi-omic technologies, the relatedness of different phenotypes at a molecular level have revolutionized our ability to differentiate among patients. Our study is aimed at establishing a novel molecular typing method of CAP. Multi-omic (including genomics, transcriptomes, and metabolisms) data obtained from enrolled CAP patients and isolated pathogens would be integrated analyzed and interpreted. Tthe investigators believe that an appropriate molecular typing method would lead to revolutionary changes in current arrangements of CAP.

The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols. The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.

According to french recommandations for IUGR management we have to propose a CGH-array analysis if the IUGR is severe (bellow the 3rd percentile) and early (in the second trimester). However there is no data to support this point of view.

The objective of this protocol is to enable collection of biospecimens to facilitate current and future multidisciplinary research in rare genetic disorders and medical conditions.

To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases