6 Clinical Trials for Various Conditions
Genetically inherited heart diseases (familial cardiopathies) are conditions affecting the heart passed on to family members by abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses. Researchers are interested in learning more about the specific genetic abnormalities causing heart diseases. In addition, they would like to find out how these abnormal genes can contribute to the development of other medical problems. In order to do this, researchers plan to study patients and family members of patients diagnosed with genetically inherited heart disease. Those people participating in the study will undergo a variety of tests including blood tests, echocardiograms, and magnetic resonance imaging studies (MRI). These tests will be used to help researchers find the genetic problem causing the familial cardiopathy. Researchers hope that the information gathered from this study can be used to develop better medical care through early diagnosis, management, and treatment plans.
Genetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses. In this study researchers hope to determine the signs and symptoms (clinical correlation) associated with specific genetic abnormalities causing inherited heart diseases. In order to do this, researchers plan to evaluate patients and family members of patients diagnosed with inherited heart disease. Patients participating in the study will undergo several tests including blood tests, electrocardiograms (EKG), and echocardiograms. Patients may also be asked to undergo an MRI of the heart to provide a clearer picture of it. Patients participating in this study may not be directly benefited by it. However, information gathered from the study may contribute to the medical care, treatment, and prevention of problems for others in the future.
Genetically inherited heart diseases like hypertrophic cardiomyopathy (HCM) are conditions affecting the heart passed on to family members by abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses. Presently, there are several research studies being conducted in order to improve the understanding of disease processes and symptoms associated with genetically inherited heart diseases. This study is designed to determine the eligibility of patients diagnosed with or suspected to have inherited heart disease to participate in these research studies.
Hypertrophic cardiomyopathy (HCM) is a genetically inherited heart disease. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. Hypertrophic cardiomyopathy (HCM) is the most important cause of sudden death in apparently healthy young people. A genetic test called linkage analysis is used to locate genes causing inherited diseases like HCM. Linkage analysis requires large families to be evaluated clinically in order to identify the members with and without the disease. In this study researchers will collect samples of DNA from family members of patients with HCM. The diagnosis of the disease will be made by history and physical examination, electrocardiogram (12 lead ECG), and ultrasound of the heart (2-D echocardiogram). The ability of the researchers to locate the gene responsible for the disease improves with increases in the size of the family and members evaluated. In order to continue research on the genetic causes of heart disease, researchers intend on studying families with specific genetic mutations (beta-MHC) causing HCM. Researcher plan to also study families with HCM not linked to specific gene mutations (beta-MHC).
Although pre-test genetic counseling is widely recommended and has come to dominate genetic counseling practice, tailored results-focused genetic counseling could both increase genetic counseling efficiency and improve genetic counseling outcomes for the growing number of patients seeking genetic testing for recommended genome-guided medical management. This study will test that hypothesis in adults referred for cardiovascular genetic counseling and testing at the Johns Hopkins Center for Inherited Heart Diseases. This study is a three-arm randomized clinical trial to evaluate two complementary approaches to shifting the primary genetic counseling session to post-test for 510 adults with two broad cardiovascular genetic counseling indications: diagnostic panel testing and family-specific variant testing. The investigators will compare usual care (pre-test genetic counseling appointment, results returned by phone / electronic health record) with online video-based pre-test tailored genetic education with an optional (efficiency arm) or required (flipped arm) phone call with a genetic counselor followed by a post-test genetic counseling appointment. The investigators hypothesize that post-test genetic counseling will: 1) increase efficiency, 2) promote patient empowerment and adherence, and 3) have similar genetic test-associated psychosocial impact.
This study will examine how to communicate with an underserved population about inherited disease risks. It will present information about inherited risk to a Latino population through either a lay health advisor (LHA) or through printed information. The LHA is a member of the Latino community who has received training in public speaking, group facilitation, and managing group dynamics and in family health history and genetics. Previous studies have shown that an LHA can effectively communicate health information to diverse audiences, but such interventions have not been studied in the context of inherited risk. Spanish-speaking Latino men and women over the age of 18 in the Oakland, CA, and Washington, DC, areas who have basic Spanish reading and writing skills may be eligible for this study. Participants are recruited to one of two groups. One group participates in group educational sessions with an LHA about inherited disease risks and family health history, and the other receives this information from a brochure. Educational Sessions Groups of 5 to 8 individuals complete a questionnaire and then participate in a 45-minute educational session on concepts related to genetics, family health history, lifestyle and environment. Participants engage in role-playing to practice discussing family health history with family members. The LHA teaches participants the skills needed to fill in family health history tool called My Family Health Portrait and answers questions. After the question and answer session, participants complete a second questionnaire. Brochure-Only Participants complete a questionnaire and then read a Spanish-language brochure produced by the U.S. Surgeon General's Office about the importance of knowing one's family history. They then complete a second questionnaire.