Multidisciplinary Study of Right Ventricular Dysplasia
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|ClinicalTrials.gov Identifier: NCT00024505|
Recruitment Status : Completed
First Posted : September 18, 2001
Last Update Posted : January 17, 2013
|Condition or disease|
|Heart Diseases Arrhythmogenic Right Ventricular Dysplasia|
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.
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.
|Study Type :||Observational|
|Actual Enrollment :||320 participants|
|Official Title:||Multidisciplinary Study of Right Ventricular Dysplasia|
|Study Start Date :||September 2001|
|Primary Completion Date :||July 2010|
|Study Completion Date :||July 2010|
- Identifying the cardiac, clinical, and genetic aspects of ARVD [ Time Frame: Measured during the course of the study ]
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00024505
|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|