Found 21 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 overarching goal of our research is to define an evidence-based, sustainable approach to identifying and managing genetic risk among young adults with cancer and their relatives. Conventional practice leaves referral and testing decisions to mostly non-expert clinicians implementing complex guidelines at the point of care, leading to substantial under-utilization. …
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 …
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). To investigate the genetic link to PD, we will ask participants to contribute their genetic test results and associated raw data …
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 …
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 …
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 who …
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 …
This study seeks enroll 390 adult males and females with Severe Hypertriglyceridemia and with fasting TG 500 mg/dL (5.65 mmol/L) that are over the age of 18. The primary objective is to evaluate the efficacy of olezarsen as compared to placebo on the percent change in fasting TG from Baseline.
This study aims to identify how useful polygenic and integrated risk is in both helping doctors to treat and manage their patients, and identifying people at risk of developing coronary artery disease. Targeted population is previously genotyped individuals in the PMBB. We will calculate an integrated risk score for coronary …
The research study is being conducted to better understand factors that lead to gastric (stomach) cancer, including differences in our genes that may put some people at increased risk of developing gastric cancer compared to other people. Both people with increased risk as well as people with average risk of …
