Pulmonary FibrosisNCT00084305
Analysis of Specimens From Individuals With Pulmonary Fibrosis
An observational study of Pulmonary Fibrosis and Healthy Volunteers, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination from individuals with this disorder may contribute to our understanding of the pathogenic… Read more about this study
- Who is it for?
- Ages 18 to 115 years
- Conditions the study is for
- Pulmonary Fibrosis, Healthy Volunteers, Hermansky-Pudlak Syndrome (HPS)
- How many people
- 315 participants
- Where
- 1 siteUnited States
- Study dates
- 9 Jun 2004to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 18 to 115 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with pulmonary fibrosis@@@@@@
Who may be able to join
- Individuals who are 18 years of age or older with any of the following:
- Idiopathic pulmonary fibrosis [defined by the American Thoracic Society/European Respiratory Society guidelines],
- Familial pulmonary fibrosis [defined as idiopathic pulmonary fibrosis in two or more first-degree relatives],
- Relatives of patients with hereditary pulmonary fibrosis,
- Hermansky-Pudlak syndrome (diagnosed by paucity or deficiency of platelet dense bodies on whole mount electron microscopy or by genetic testing),
- Pulmonary fibrosis associated with collagen vascular diseases or autoinflammatory disorders,
- Pulmonary fibrosis post-COVID-19 [i.e., pulmonary fibrosis in an individual recovering from SARS-CoV-2 infection], or
- Healthy research volunteers by history and indicated tests (individuals without history of chronic pulmonary disorder, collagen vascular disease, or bleeding disorder).
Who cannot join
- Individuals with any of the following:
- Significant inhalational exposure to fibrogenic fibers or dusts or exposure to drugs associated with pulmonary fibrosis,
- Uncontrolled ischemic heart disease,
- Uncorrectable bleeding diathesis,
- Pregnancy or lactation (excluded due to exposure of unnecessary risks), or
- Inability to give informed consent (excluded due to exposure of unnecessary risks).
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination from individuals with this disorder may contribute to our understanding of the pathogenic mechanisms of pulmonary fibrosis. The purpose of this protocol is to procure and analyze blood, genomic DNA, and specimens by bronchoscopy, lung biopsy, lung transplantation, extra-pulmonary biopsies, or post-mortem examination from subjects with pulmonary fibrosis. In addition, blood, genomic DNA, clinically-indicated extra-pulmonary biopsies, as well as bronchoscopy and post-mortem examination specimens may be procured and analyzed from relatives of subjects with hereditary forms of pulmonary fibrosis; blood, genomic DNA, and bronchoscopy specimens may be procured from healthy research volunteers.
Read the detailed description
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination from individuals with this disorder may contribute to our understanding of the pathogenic mechanisms of pulmonary fibrosis. The purpose of this protocol is to procure and analyze blood, genomic DNA, and specimens by bronchoscopy, lung biopsy, lung transplantation, extra-pulmonary biopsies, or post-mortem examination from subjects with pulmonary fibrosis. In addition, blood, genomic DNA, clinically-indicated extra-pulmonary biopsies, as well as bronchoscopy and post-mortem examination specimens may be procured and analyzed from relatives of subjects with hereditary forms of pulmonary fibrosis; blood, genomic DNA, and bronchoscopy specimens may be procured from healthy research volunteers.
- Keywords
- Bronchoscopy, Pulmonary Fibrosis, Lung Biopsy (Clinically-Indicated), Natural History
- Medical subject headings
- Pulmonary Fibrosis, Hermanski-Pudlak Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Family | Family members of patients with pulmonary fibrosis | |
| Healthy Volunteers | Healthy Volunteers | |
| Pulmonary Fibrosis | Patients with pulmonary fibrosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Procure and analyze
The objectives and specific aims of this protocol are to procure and analyze blood and cell/tissue specimens from individuals with pulmonary fibrosis, relatives of subjects with familial pulmonary fibrosis, and healthy research volunteers.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2004 (estimated)
- Study start9 Jun 2004
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Pulmonary FibrosisStudies of the same condition, open and under way.
- 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
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 315 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Wendy J Introne, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00084305
- Sponsor's protocol ID
- 040211
- Other IDs
- 04-HG-0211
- Status last verified
- 16 Oct 2026
- First submitted
- 9 Jun 2004
- Last updated
- 21 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. Am J Med Genet A. 2018 Dec;176(12):2819-2823. doi: 10.1002/ajmg.a.40514. Epub 2018 Oct 4.
PubMed 30369044El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR. The Immunome in Two Inherited Forms of Pulmonary Fibrosis. Front Immunol. 2018 Jan 31;9:76. doi: 10.3389/fimmu.2018.00076. eCollection 2018.
PubMed 29445374
Study at a glance
From the registry record, last updated by the sponsor on 21 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Analysis of Specimens From Individuals With Pulmonary Fibrosis
- ClinicalTrials.gov ID
- NCT00084305
- Acronym / sponsor ID
- 040211
- Keywords
- Bronchoscopy, Pulmonary Fibrosis, Lung Biopsy (Clinically-Indicated), Natural History
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 315 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 9 Jun 2004 (actual)
- First posted
- 10 Jun 2004 (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.
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination from individuals with this disorder may contribute to our understanding of the pathogenic mechanisms of pulmonary fibrosis. The purpose of this protocol is to procure and analyze blood, genomic DNA, and specimens by bronchoscopy, lung biopsy, lung transplantation, extra-pulmonary biopsies, or post-mortem examination from subjects with pulmonary fibrosis. In addition, blood, genomic DNA, clinically-indicated extra-pulmonary biopsies, as well as bronchoscopy and post-mortem examination specimens may be procured and analyzed from relatives of subjects with hereditary forms of pulmonary fibrosis; blood, genomic DNA, and bronchoscopy specimens may be procured from healthy research volunteers.
Detailed description
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination from individuals with this disorder may contribute to our understanding of the pathogenic mechanisms of pulmonary fibrosis. The purpose of this protocol is to procure and analyze blood, genomic DNA, and specimens by bronchoscopy, lung biopsy, lung transplantation, extra-pulmonary biopsies, or post-mortem examination from subjects with pulmonary fibrosis. In addition, blood, genomic DNA, clinically-indicated extra-pulmonary biopsies, as well as bronchoscopy and post-mortem examination specimens may be procured and analyzed from relatives of subjects with hereditary forms of pulmonary fibrosis; blood, genomic DNA, and bronchoscopy specimens may be procured from healthy research volunteers.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Family | – | –Family members of patients with pulmonary fibrosis |
| Healthy Volunteers | – | –Healthy Volunteers |
| Pulmonary Fibrosis | – | –Patients with pulmonary fibrosis |
Who may qualify
- Ages
- 18 to 115 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with pulmonary fibrosis@@@@@@
Key inclusion criteria (8 listed)
- Idiopathic pulmonary fibrosis [defined by the American Thoracic Society/European Respiratory Society guidelines],
- Familial pulmonary fibrosis [defined as idiopathic pulmonary fibrosis in two or more first-degree relatives],
- Relatives of patients with hereditary pulmonary fibrosis,
- Hermansky-Pudlak syndrome (diagnosed by paucity or deficiency of platelet dense bodies on whole mount electron microscopy or by genetic testing),
- Pulmonary fibrosis associated with collagen vascular diseases or autoinflammatory disorders,
Key exclusion criteria (6 listed)
- Significant inhalational exposure to fibrogenic fibers or dusts or exposure to drugs associated with pulmonary fibrosis,
- Uncontrolled ischemic heart disease,
- Uncorrectable bleeding diathesis,
- Pregnancy or lactation (excluded due to exposure of unnecessary risks), or
- Inability to give informed consent (excluded due to exposure of unnecessary risks).
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
Procure and analyze
Time frame: Ongoing
The objectives and specific aims of this protocol are to procure and analyze blood and cell/tissue specimens from individuals with pulmonary fibrosis, relatives of subjects with familial pulmonary fibrosis, and healthy research volunteers.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Oct 2026.
- Derived from this study: PubMed 30369044Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. Am J Med Genet A. 2018 Dec;176(12):2819-2823. doi: 10.1002/ajmg.a.40514. Epub 2018 Oct 4.
- Derived from this study: PubMed 29445374El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR. The Immunome in Two Inherited Forms of Pulmonary Fibrosis. Front Immunol. 2018 Jan 31;9:76. doi: 10.3389/fimmu.2018.00076. eCollection 2018.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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.
Wendy J Introne, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pulmonary Fibrosis and Healthy Volunteers, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 6 exclusion criteria. 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: under way, not looking for participants, as of the sponsor's last update on 21 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
This study is still under way. Results are not available in the source record yet.
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.
What does the primary outcome measure?
Procure and analyze (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00084305, which also lists 2 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 21 Oct 2026.