Ignite Creation Date:
2024-05-05 @ 11:20 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00006312
Status:
COMPLETED
Last Update Posted:
2016-01-15
First Post:
2000-09-28
Brief Title:
Hemochromatosis--Genetic Prevalence and Penetrance
Sponsor:
University of Rochester
Organization:
University of Rochester
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2016-01
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:
To examine the cost effectiveness of hereditary hemochromatosis HH screening in primary care
Detailed Description:
BACKGROUND
Hereditary hemochromatosis HH is the most common inherited disorder among Caucasians with an estimated frequency as high as 8 per 1000 Affected individuals absorb excessive amounts of dietary iron and develop progressive accumulation of tissue iron stores with consequent organ dysfunction including hepatic cirrhosis diabetes mellitus congestive heart failure arthropathy and impotence Early diagnosis and institution of phlebotomy treatments will prevent disease manifestations and normalize life expectancy In 1996 HFE the gene for HHC was mapped on the short arm of chromosome 6 6p213 HH is therefore a natural target for the development of a routine screening strategy
DESIGN NARRATIVE
The investigators have demonstrated the favorable cost-effectiveness ratio of adopting a screening strategy for HH and have screened 16031 primary care patients using serum transferrin saturation TS levels to confirm the prevalence of undiagnosed HH in this setting and to demonstrate the feasibility of screening The recent description of HFE gene mutations in individuals with HH has made genetic testing for HH possible and may increase the attractiveness of general screening However several important questions about genetic prevalence and penetrance remain to be addressed before such a recommendation can be made The large screened sample provides a unique opportunity to address several of these important issues First they will obtain population-based estimates of the prevalence of HFE gene mutations Second they will determine the sensitivity of serum TS testing for detecting these mutations Third the comparison of genotype and phenotype will allow them to draw useful inferences about disease penetrance The results will enable them to propose an optimal screening strategy for HH and to determine the place of genetic testing in the diagnostic algorithm This strategy may vary depending on age sex and race The answers to these questions will enable them to determine with greater confidence the relative effectiveness of a screening strategy for HH and will clarify for primary care practitioners which of their patients should be screened for this disorder These questions have recently been identified as a priority by the Centers for Disease Control and Prevention and by the National Heart Lung and Blood Institute
Hereditary hemochromatosis HH is the most common inherited disorder among Caucasians with an estimated frequency as high as 8 per 1000 Affected individuals absorb excessive amounts of dietary iron and develop progressive accumulation of tissue iron stores with consequent organ dysfunction including hepatic cirrhosis diabetes mellitus congestive heart failure arthropathy and impotence Early diagnosis and institution of phlebotomy treatments will prevent disease manifestations and normalize life expectancy In 1996 HFE the gene for HHC was mapped on the short arm of chromosome 6 6p213 HH is therefore a natural target for the development of a routine screening strategy
DESIGN NARRATIVE
The investigators have demonstrated the favorable cost-effectiveness ratio of adopting a screening strategy for HH and have screened 16031 primary care patients using serum transferrin saturation TS levels to confirm the prevalence of undiagnosed HH in this setting and to demonstrate the feasibility of screening The recent description of HFE gene mutations in individuals with HH has made genetic testing for HH possible and may increase the attractiveness of general screening However several important questions about genetic prevalence and penetrance remain to be addressed before such a recommendation can be made The large screened sample provides a unique opportunity to address several of these important issues First they will obtain population-based estimates of the prevalence of HFE gene mutations Second they will determine the sensitivity of serum TS testing for detecting these mutations Third the comparison of genotype and phenotype will allow them to draw useful inferences about disease penetrance The results will enable them to propose an optimal screening strategy for HH and to determine the place of genetic testing in the diagnostic algorithm This strategy may vary depending on age sex and race The answers to these questions will enable them to determine with greater confidence the relative effectiveness of a screening strategy for HH and will clarify for primary care practitioners which of their patients should be screened for this disorder These questions have recently been identified as a priority by the Centers for Disease Control and Prevention and by the National Heart Lung and Blood Institute
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| R01HL061428 | NIH | None | httpsreporternihgovquickSearchR01HL061428 |