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Sponsored by: |
National Heart, Lung, and Blood Institute (NHLBI) |
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Information provided by: | National Heart, Lung, and Blood Institute (NHLBI) |
ClinicalTrials.gov Identifier: | NCT00024505 |
The purpose of this study is to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ventricular arrhythmias.
Condition |
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Heart Diseases Arrhythmogenic Right Ventricular Dysplasia |
Study Type: | Observational |
Study Design: | Cohort, Prospective |
Official Title: | Multidisciplinary Study of Right Ventricular Dysplasia |
Blood
Estimated Enrollment: | 300 |
Study Start Date: | September 2001 |
Estimated Study Completion Date: | July 2010 |
Estimated Primary Completion Date: | July 2008 (Final data collection date for primary outcome measure) |
BACKGROUND:
ARVD is an uncommon disorder but is considered a major cause of sudden death and life-threatening arrhythmia, in particular in the young population. The prevalence of ARVD is unknown but is certainly underestimated because of the difficulties in obtaining a correct diagnosis. It appears to be particularly frequent in certain geographical areas, probably for a founder effect, such as in northeast Italy, where a large number of ARVD cases and families have been described. A noncontrolled study of the University of Padua reported a frequency of familial forms of about 30 percent, indicating the existence of a defective gene in a large proportion of cases. In the United States the frequency of the disease is unknown, but the number of cases seems to be increasing.
The etiology of ARVD was unknown until very recently. The main hypothesis involved apoptotic mechanisms and, in some cases, a viral infection. However, in the last couple of years, two genes causing ARVD have been identified.
The first one encodes plakoglobin, a protein of the cardiac junctions with adhesive and signaling functions. The second ARVD gene is the cardiac ryanodine receptor (RYR2), which has been characterized only very recently by Dr.
Danieli's group. In fact, this discovery is so recent that in this study, RYR2 is still considered a potential candidate. The discovery of the first disease genes provides the basis for a candidate gene approach following the hypothesis of a "final common pathway." Thus, major candidates become genes involved in cell-cell adhesion and encoding ion channels.
DESIGN NARRATIVE:
This is a multidisciplinary, multicenter, collaborative study investigating the cardiac, clinical, and genetic aspects of ARVD. The specific aims are (1) to establish a North American ARVD Registry enrolling ARVD patients and their family members, based on standardized diagnostic test criteria, in a prospective longitudinal follow-up study; (2) to determine the genetic background of ARVD by identifying chromosomal loci and specific gene mutations associated with this disorder; (3) to determine the influence of the genotype on the clinical course of patients with ARVD and explore phenotype-genotype associations that will contribute to improved diagnosis, risk stratification, and therapy; and (4) to develop quantitative methods to assess right ventricular function in order to enhance the specificity and sensitivity of ARVD diagnosis.
Ages Eligible for Study: | 12 Years to 90 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Referals to enrolling centers from communities
Inclusion Criteria:
Exclusion Criteria:
United States, Arizona | |
University of Arizona | |
Tucson, Arizona, United States, 85724 |
Principal Investigator: | Frank I. Marcus, MD | University of Arizona |
Principal Investigator: | Jeffrey Towbin | Baylor College of Medicine |
Principal Investigator: | Wojciech Zareba | University of Rochester |
Responsible Party: | University of Arizona ( Frank I. Marcus, MD ) |
Study ID Numbers: | 983, U01 HL65594, U01 HL65652, U01 HL65691 |
Study First Received: | September 18, 2001 |
Last Updated: | February 18, 2009 |
ClinicalTrials.gov Identifier: | NCT00024505 History of Changes |
Health Authority: | United States: Federal Government |
Heart Diseases Cardiovascular Abnormalities Congenital Abnormalities |
Cardiomyopathies Heart Defects, Congenital Arrhythmogenic Right Ventricular Dysplasia |
Heart Diseases Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities |
Cardiomyopathies Heart Defects, Congenital Arrhythmogenic Right Ventricular Dysplasia |