Abstract

The purpose of this protocol is to comprehensively evaluate patients with homozygous FH to determine their potential suitability for the gene therapy protocol. Homozygous FH is a serious genetic disease caused by mutations in the LDL receptor gene and results in markedly elevated LDL levels and severe premature coronary heart and other atherosclerotic vascular disease. In addition, a second purpose of this protocol is to provide important information regarding the extent and progression of atherosclerosis in homozygous FH using quantitative coronary angiography and specific non-invasive tests as predictors of coronary artery disease (CAD) and clinical cardiac events in patients with homozygous FH. During the patient's annual evaluation in the GCRC the following tests, in addition to coronary angiography, will be performed: exercise thallium/echocardiography, cardiac echocardiography, carotid duplex ultrasound. We hope to evantually re-institute performing magnetic resonance imaging and angiography, and cardiac Ultrafast CT scanning as well. The usefulness of these non-invasive tests in predicting the occurrence of CAD based on clinical cardiac events and coronary angiography will be studied.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000040-40
Application #
6303370
Study Section
Project Start
1999-12-01
Project End
2000-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
40
Fiscal Year
2000
Total Cost
$25,114
Indirect Cost

  Institution

Name
University of Pennsylvania
Department
Type
DUNS #
042250712
City
Philadelphia
State
PA
Country
United States
Zip Code
19104

  Publications

Khalili, Mandana; Shuhart, Margaret C; Lombardero, Manuel et al. (2018) Relationship Between Metabolic Syndrome, Alanine Aminotransferase Levels, and Liver Disease Severity in a Multiethnic North American Cohort With Chronic Hepatitis B. Diabetes Care 41:1251-1259
Thomas, Bernadette; Matsushita, Kunihiro; Abate, Kalkidan Hassen et al. (2017) Global Cardiovascular and Renal Outcomes of Reduced GFR. J Am Soc Nephrol 28:2167-2179
Ojiro, Keisuke; Qu, Xiaowang; Cho, Hyosun et al. (2017) Modulation of Hepatitis C Virus-Specific CD8 Effector T-Cell Function with Antiviral Effect in Infectious Hepatitis C Virus Coculture Model. J Virol 91:
Di Bisceglie, A M; Lombardero, M; Teckman, J et al. (2017) Determination of hepatitis B phenotype using biochemical and serological markers. J Viral Hepat 24:320-329
Lok, A S; Ganova-Raeva, L; Cloonan, Y et al. (2017) Prevalence of hepatitis B antiviral drug resistance variants in North American patients with chronic hepatitis B not receiving antiviral treatment. J Viral Hepat 24:1032-1042
Leonard, Mary B; Shults, Justine; Long, Jin et al. (2016) Effect of Low-Magnitude Mechanical Stimuli on Bone Density and Structure in Pediatric Crohn's Disease: A Randomized Placebo-Controlled Trial. J Bone Miner Res 31:1177-88
Ricordi, Camillo; Goldstein, Julia S; Balamurugan, A N et al. (2016) National Institutes of Health-Sponsored Clinical Islet Transplantation Consortium Phase 3 Trial: Manufacture of a Complex Cellular Product at Eight Processing Facilities. Diabetes 65:3418-3428
Evon, Donna M; Wahed, Abdus S; Johnson, Geoffrey et al. (2016) Fatigue in Patients with Chronic Hepatitis B Living in North America: Results from the Hepatitis B Research Network (HBRN). Dig Dis Sci 61:1186-96
Park, Jang-June; Wong, David K; Wahed, Abdus S et al. (2016) Hepatitis B Virus--Specific and Global T-Cell Dysfunction in Chronic Hepatitis B. Gastroenterology 150:684-695.e5
Hering, Bernhard J; Clarke, William R; Bridges, Nancy D et al. (2016) Phase 3 Trial of Transplantation of Human Islets in Type 1 Diabetes Complicated by Severe Hypoglycemia. Diabetes Care 39:1230-40

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