Found 22 Genetics trials
A listing of Genetics medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.
The Gen-Y Study: Randomized trial of universal vs. guideline-directed germline testing among young adults with cancer
Our study aims to determine whether genetic testing should be recommended for young adults with cancer. This type of testing can show if your cancer may be caused by inherited risk. This information can help guide effective screening and treatment for cancer in young adults and their families. This is …
LCAT Deficiency Disorders: natural history and identification of biomarkers
Familial lecithin:cholesterol acyl transferase (LCAT) deficiency (FLD) is a rare, hereditary disease with no treatment. It is caused by mutations in the gene for LCAT, an enzyme that is made in the liver and plays a role in the body’s ability to process (“metabolize”) cholesterol. People with FLD have very …
Assessing the Impact of Lipoprotein (a) Lowering With TQJ230 on Major Cardiovascular Events in Patients With CVD (Lp(a)HORIZON)
Phase 3
This is a pivotal phase 3 study designed to support an indication for the reduction of cardiovascular risk in patients with established CVD and elevated Lp(a)
DCPMS: Dialated Cardiomyopathy Precision Medicine Study
This study aims to understand the effects of potential familial/genetic links in an otherwise unclear origin of a patient's heart disease.
Parkinsons Foundation PD GENEration Genetic Registry
This study aims to collect and share Parkinson’s disease genetic testing data from up to 500,000 study participants for research use. Participants will include people with Parkinson's disease (PD) and people at-risk for developing PD, and members of the general community that do not have PD. To investigate the genetic …
Understanding the Genetics of Central Centrifugal Cicatricial Alopecia
The purpose of this study is to characterize gene mutations associated Central Centrifugal Cicatricial Alopecia (CCCA). The Penn Medicine BioBank (PMBB) supports researchers by providing centralized access to a large number of annotated blood and tissue samples. Clinician identified patients with CCCA and appropriate controls will be recruited from the …
Deep Phenotyping of ANGPTL3 4 and 8 Human Knockouts
Subjects with unusual lipids in subjects with known or suspected genetic variants that may be associated with change in lipoprotein kinetics will have two-night, one-day inpatient stay in CHPS, during which they will undergo extensive evaluation of lipoprotein kinetics using stable isotope techniques, OFTT, and OGTT. Subjects will complete a …
NONCOMPACT- International Consortium for Multimodality Phenotyping in Adults with Non-compaction
This is a prospective, multicenter observational study to identify clinical, genetic and imaging predictors of clinical outcome in patients with suspected non-compaction cardiomyopathy Many healthy people have increased trabeculations without consequences, however, some may develop blood clots, heart rhythm disorders or heart failure later in life. Currently we cannot predict …
Study to determine safety and tolerability of oral lucerastat in adult subjects with Fabry disease
Phase 3
The purpose of this study is to study how a new investigational drug called lucerastat works in research subjects. Taking part in a research study is different from getting regular medical care. The aim of regular care is to improve your health. The aim of a research study is to …
An Open-Label Extension Study of AKCEA-APOCIII-LRX Administered Subcutaneously to Patients with Familial Chylomicronemia Syndrome (FCS)
Phase 3
This study seeks to roll over subjects from ISIS 678354-CS3 (the index study; Penn IRB#850921). Patients will receive drug at the dose of 80 mg every 4 weeks (or 50 mg every-4-weeks if their dose was permanently reduced from 80 mg to 50 mg (ISIS 678354 or placebo) in the …
