Ignite Creation Date:
2024-05-05 @ 11:23 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00024505
Status:
COMPLETED
Last Update Posted:
2013-01-17
First Post:
2001-09-18
Brief Title:
Multidisciplinary Study of Right Ventricular Dysplasia
Sponsor:
University of Arizona
Organization:
University of Arizona
Study Overview
Official Title:
Multidisciplinary Study of Right Ventricular Dysplasia
Status:
COMPLETED
Status Verified Date:
2013-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
Detailed Description:
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 Danielis 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
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 Danielis 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| U01HL065594-05 | NIH | None | None |
| U01HL065594 | NIH | None | None |
| U01HL065652 | NIH | None | None |
| U01HL065691 | NIH | None | httpsreporternihgovquickSearchU01HL065691 |