hereditary-cancer-syndromes Clinical Trials
A listing of hereditary-cancer-syndromes medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.
Found 98 clinical trials
Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France
This study aims to investigate the factors (clinical, care-related and genetic) affecting renal outcome in patients with TSC (Tuberous sclerosis complex)
Study of Skin Tumors in Tuberous Sclerosis
Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This …
Observational, Retrospective, Multicenter, Nonprofit Study on the Prevalence of Renal Involvement in Pediatric Patients With Tuberous Sclerosis
Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis.
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD. In addition, this study will be creating and maintaining a biorepository and linked …
Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)
This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Brain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations, including focal cortical dysplasia or hemimegalencephaly. The present study aims to search for brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
Cold Snare Polypectomy for Duodenal Adenomas in Familial Adenomatous Polyposis
The purpose of this study is to collect prospective observational data regarding patients with diagnosed Familial Adenomatous Polyposis (FAP) undergoing cold snare polypectomy for duodenal adenomas
Microbial and Environmental Factors Associated with Polyps Development in Familial Adenomatous Polyposis (MicrobEnvironment in FAP)
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder linked to a mutation in the APC gene, associated with the development of multiple colonic and duodenal adenomas, which in 100% of cases progress to colorectal cancer (CRC) if left untreated. Management of affected patients is usually based on prophylactic …
Epidyolex® in Lennox Gastaut, Dravet Syndrome and Tuberous Sclerosis Complex: an Observational Study in ITALY
This is a prospective, observational study on approximately 70-100 Real World participants affected by LGS, DS, or TSC treated with Epidyolex® as prescribed in the summary of product characteristics. The eligible participants are expected to participate in the study for a duration of 52 weeks of treatment.
