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Last Updated: 09/18/2022

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21 Clinical Trials
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Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis

Summary: 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 study will investigate what causes skin tumors ...

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Summary: 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

The Phenotype and Etiology of Proteus Syndrome

Summary: This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, t...

Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM)

Summary: Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor.~This study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy.~Researchers intend to identify the proteins and ge...

Role of Genetic Factors in the Pathogenesis of Lung Disease

Summary: This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.~The study will focus on defining the distribution of abnormal genes responsible for processes directly involved in different diseases affecting the lungs of patients and healthy volun...

Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study

Summary: This trial is a Phase II randomized, double-blind, placebo controlled multi-site study to evaluate the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants.~This study is supported by research funding from the Office of Orphan Products Division (OOPD) of the US Food and Drug Administration (FDA).

A Multi-Cohort Phase 2 Dose-Escalation Study of MK-7075 (Miransertib) in Proteus Syndrome

Summary: Background:~Proteus syndrome is a rare overgrowth disorder. Most people begin to have symptoms between 6 months and 2 years of age. There are very few living adults with this disease. There is also no known treatment for it. Researchers want to see if a new drug can slow down or stop overgrowth in people with Proteus syndrome.~Objective:~The learn if miransertib is a safe and effective treatment f...

Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates

Summary: This is a physiopathological case-control, non-interventional, monocentric study of adult patients with lymphangioleiomyomatosis. The controls are patients followed in neurology at the CHU of Tours for a tuberous sclerosis complex without lymphangioleiomyomatosis, the healthy volunteers are women with neither pulmonary nor renal pathology and recruited at the clinical investigation centre of the C...

Familial Investigations of Childhood Cancer Predisposition

Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...

Liquid Biopsy Evaluation and Repository Development at Princess Margaret

Summary: The objective of this protocol is to develop an institution-wide liquid biopsy protocol that will establish a common process for collecting blood and corresponding archived tumor specimens for future research studies at the University Health Network's Princess Margaret Cancer Centre. Circulating cell-free nucleic acids (cfNA), including cell-free DNA (cfDNA) and cell-free RNA (cfRNA), are non-inva...

Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders

Summary: The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of neurogenetic disorders that leave individuals at risk for developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to imp...

Phase 2 Multi Center Prospective Rand. Double Blind Placebo Cont. Parallel Design Study to Evaluate Safety & Efficacy of Topical Sirolimus for Cutaneous Angiofibromas in Subjects W/ Tuberous Sclerosis Complex Followed by Opt. Open Label

Summary: The objective of this study is to evaluate the safety and efficacy of sirolimus (0.2% and 0.4% formulations) and its vehicle when applied topically once daily for 12 weeks for the treatment of cutaneous angiofibromas in pediatric subjects with tuberous sclerosis complex (TSC).
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Last Updated: 09/18/2022