Ignite Creation Date:
2024-05-05 @ 11:23 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00016627
Status:
COMPLETED
Last Update Posted:
2016-02-18
First Post:
2001-05-19
Brief Title:
Linkage Study in Familial Pulmonary Fibrosis
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Heart Lung and Blood Institute NHLBI
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2005-11
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 map the gene or genes for familial pulmonary fibrosis
Detailed Description:
BACKGROUND
Familial pulmonary fibrosis FPF is a rare progressive life-threatening disease Although far from definitive several lines of evidence suggest that it could involve genetic susceptibility and that its expression may be modified gene-environment interactions involving exposure to fibrogenic dusts If the specific gene loci involved can be identified and their functions characterized these studies could lead to a better understanding of the etiology of the disease and effective intervention strategies among families at increased risk It is conceivable that the genetically influenced pathologic mechanisms involved may be shared with other more common forms of pulmonary fibrosis such as idiopathic pulmonary fibrosis IPF or asbestosis Thus these studies could lead to the early identification of individuals susceptible to reversible interstitial lung disease and to the development of novel therapeutic approaches
Familial pulmonary fibrosis is indistinguishable pathologically from idiopathic pulmonary fibrosis and appears to be inherited as an autosomal dominant trait with variable penetrance pulmonary fibrosis is associated with pleiotropic genetic disorders such as Hermansky-Pudlak syndrome neurofibromatosis tuberous sclerosis Neimann-Pick disease Gauchers disease and familial hypocalciuric hypercalcemia pulmonary fibrosis is frequently observed in autoimmune disease including rheumatoid arthritis and systemic sclerosis variable susceptibility is evident among workers who are reported to be exposed occupationally to similar concentrations of fibrogenic dusts and inbred strains of mice differ in their susceptibility to fibrogenic dust
DESIGN NARRATIVE
The study uses standard genetic methodology linkage analysis to investigate the distribution of polymorphisms for anonymous genetic markers in families with familial pulmonary fibrosis The comprehensive genome-wide study using standard genetic markers will allow identification of loci which subsequently may prove to contain novel genes that play a role in the pathogenesis of pulmonary fibrosis Once genetic loci are defined in familial pulmonary fibrosis candidate genes can be identified on the basis of both positional and functional criteria Moreover this approach will provide basic information on high priority loci that will be applicable to the rapidly evolving dense human transcript map for pulmonary fibrosis in families with two or more cases of pulmonary fibrosis
The study completion date listed in this record was obtained from the End Date entered in the Protocol Registration and Results System PRS record
Familial pulmonary fibrosis FPF is a rare progressive life-threatening disease Although far from definitive several lines of evidence suggest that it could involve genetic susceptibility and that its expression may be modified gene-environment interactions involving exposure to fibrogenic dusts If the specific gene loci involved can be identified and their functions characterized these studies could lead to a better understanding of the etiology of the disease and effective intervention strategies among families at increased risk It is conceivable that the genetically influenced pathologic mechanisms involved may be shared with other more common forms of pulmonary fibrosis such as idiopathic pulmonary fibrosis IPF or asbestosis Thus these studies could lead to the early identification of individuals susceptible to reversible interstitial lung disease and to the development of novel therapeutic approaches
Familial pulmonary fibrosis is indistinguishable pathologically from idiopathic pulmonary fibrosis and appears to be inherited as an autosomal dominant trait with variable penetrance pulmonary fibrosis is associated with pleiotropic genetic disorders such as Hermansky-Pudlak syndrome neurofibromatosis tuberous sclerosis Neimann-Pick disease Gauchers disease and familial hypocalciuric hypercalcemia pulmonary fibrosis is frequently observed in autoimmune disease including rheumatoid arthritis and systemic sclerosis variable susceptibility is evident among workers who are reported to be exposed occupationally to similar concentrations of fibrogenic dusts and inbred strains of mice differ in their susceptibility to fibrogenic dust
DESIGN NARRATIVE
The study uses standard genetic methodology linkage analysis to investigate the distribution of polymorphisms for anonymous genetic markers in families with familial pulmonary fibrosis The comprehensive genome-wide study using standard genetic markers will allow identification of loci which subsequently may prove to contain novel genes that play a role in the pathogenesis of pulmonary fibrosis Once genetic loci are defined in familial pulmonary fibrosis candidate genes can be identified on the basis of both positional and functional criteria Moreover this approach will provide basic information on high priority loci that will be applicable to the rapidly evolving dense human transcript map for pulmonary fibrosis in families with two or more cases of pulmonary fibrosis
The study completion date listed in this record was obtained from the End Date entered in the Protocol Registration and Results System PRS record
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 |
|---|---|---|---|
| U01HL067467 | NIH | None | httpsreporternihgovquickSearchU01HL067467 |