Pulmonary FibrosisNCT00016627
Linkage Study in Familial Pulmonary Fibrosis
An observational study of Pulmonary Fibrosis and Lung Diseases, run by National Heart, Lung, and Blood Institute (NHLBI).
Trial summary
To map the gene (or genes) for familial pulmonary fibrosis. Read more about this study
- Who is it for?
- Ages 20 to 90 years
- Conditions the study is for
- Pulmonary Fibrosis, Lung Diseases, Lung Diseases, Interstitial
- How many people
- Not given
- Where
- No sites listed yet
- Study dates
- Aug 2000to Jul 2005
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 20 to 90 years
- All sexes
- No healthy volunteers
- Adult, Older adult
No eligibility criteria
About this study
To map the gene (or genes) for familial pulmonary fibrosis.
Read the 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, Gaucher's 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.
- Medical subject headings
- Pulmonary Fibrosis, Lung Diseases, Lung Diseases, Interstitial
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 May 2001 (estimated)
- Study startAug 2000
- Study completionJul 2005
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Pulmonary FibrosisStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Investigators
- Mark Steele, Duke University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00016627
- Sponsor's protocol ID
- 969
- Other IDs
- U01HL067467
- Status last verified
- Nov 2005
- First submitted
- 19 May 2001
- Last updated
- 18 Feb 2016
- Results posted
- No
Publications
Wahidi MM, Speer MC, Steele MP, Brown KK, Schwarz MI, Schwartz DA. Familial pulmonary fibrosis in the United States. Chest. 2002 Mar;121(3 Suppl):30S. doi: 10.1378/chest.121.3_suppl.30s. No abstract available.
PubMed 11893669Savov JD, Brass DM, Berman KG, McElvania E, Schwartz DA. Fibrinolysis in LPS-induced chronic airway disease. Am J Physiol Lung Cell Mol Physiol. 2003 Oct;285(4):L940-8. doi: 10.1152/ajplung.00102.2003. Epub 2003 Jun 20.
PubMed 12818888Garantziotis S, Steele MP, Schwartz DA. Pulmonary fibrosis: thinking outside of the lung. J Clin Invest. 2004 Aug;114(3):319-21. doi: 10.1172/JCI22497.
PubMed 15286797Steele MP, Speer MC, Loyd JE, Brown KK, Herron A, Slifer SH, Burch LH, Wahidi MM, Phillips JA 3rd, Sporn TA, McAdams HP, Schwarz MI, Schwartz DA. Clinical and pathologic features of familial interstitial pneumonia. Am J Respir Crit Care Med. 2005 Nov 1;172(9):1146-52. doi: 10.1164/rccm.200408-1104OC. Epub 2005 Aug 18.
PubMed 16109978Garantziotis S, Zudaire E, Trempus CS, Hollingsworth JW, Jiang D, Lancaster LH, Richardson E, Zhuo L, Cuttitta F, Brown KK, Noble PW, Kimata K, Schwartz DA. Serum inter-alpha-trypsin inhibitor and matrix hyaluronan promote angiogenesis in fibrotic lung injury. Am J Respir Crit Care Med. 2008 Nov 1;178(9):939-47. doi: 10.1164/rccm.200803-386OC. Epub 2008 Aug 14.
PubMed 18703791
Study at a glance
From the registry record, last updated by the sponsor on 18 Feb 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Linkage Study in Familial Pulmonary Fibrosis
- ClinicalTrials.gov ID
- NCT00016627
- Acronym / sponsor ID
- 969
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- Aug 2000
- Study completion
- Jul 2005 (actual)
- First posted
- 21 May 2001 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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, Gaucher's 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 design
Who may qualify
- Ages
- 20 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Feb 2016.
- Background: PubMed 11893669Wahidi MM, Speer MC, Steele MP, Brown KK, Schwarz MI, Schwartz DA. Familial pulmonary fibrosis in the United States. Chest. 2002 Mar;121(3 Suppl):30S. doi: 10.1378/chest.121.3_suppl.30s. No abstract available.
- Background: PubMed 12818888Savov JD, Brass DM, Berman KG, McElvania E, Schwartz DA. Fibrinolysis in LPS-induced chronic airway disease. Am J Physiol Lung Cell Mol Physiol. 2003 Oct;285(4):L940-8. doi: 10.1152/ajplung.00102.2003. Epub 2003 Jun 20.
- Background: PubMed 15286797Garantziotis S, Steele MP, Schwartz DA. Pulmonary fibrosis: thinking outside of the lung. J Clin Invest. 2004 Aug;114(3):319-21. doi: 10.1172/JCI22497.
- Background: PubMed 16109978Steele MP, Speer MC, Loyd JE, Brown KK, Herron A, Slifer SH, Burch LH, Wahidi MM, Phillips JA 3rd, Sporn TA, McAdams HP, Schwarz MI, Schwartz DA. Clinical and pathologic features of familial interstitial pneumonia. Am J Respir Crit Care Med. 2005 Nov 1;172(9):1146-52. doi: 10.1164/rccm.200408-1104OC. Epub 2005 Aug 18.
- Derived from this study: PubMed 18703791Garantziotis S, Zudaire E, Trempus CS, Hollingsworth JW, Jiang D, Lancaster LH, Richardson E, Zhuo L, Cuttitta F, Brown KK, Noble PW, Kimata K, Schwartz DA. Serum inter-alpha-trypsin inhibitor and matrix hyaluronan promote angiogenesis in fibrotic lung injury. Am J Respir Crit Care Med. 2008 Nov 1;178(9):939-47. doi: 10.1164/rccm.200803-386OC. Epub 2008 Aug 14.
Related trials for Pulmonary Fibrosis
Active, not recruitingObservational study
CFTR Modulator Effects on Bone and Muscle in Adults With Cystic Fibrosis
Cystic Fibrosis, Bone Loss
RecruitingPhase 2
Study to Evaluate the Efficacy, Safety, and Tolerability of PIPE 791 in Subjects With Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
RecruitingObservational study
Natural History of Bronchiectasis
Bronchiectasis, Cystic Fibrosis
Active, not recruitingPhase 2
A Study Evaluating the Safety and Efficacy of Inhaled AP01 in Participants With Progressive Pulmonary Fibrosis
Pulmonary Fibrosis, Progressive Pulmonary Fibrosis
RecruitingObservational study
Role of Genetic Factors in the Development of Lung Disease
Cystic Fibrosis, Pulmonary Fibrosis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mark Steele
Duke University
Questions about this trial
What is this clinical trial studying?
An observational study of Pulmonary Fibrosis and Lung Diseases, run by National Heart, Lung, and Blood Institute (NHLBI).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Feb 2016. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00016627, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Feb 2016.