Analysis of Specimens From Individuals With Pulmonary Fib... | NCT00084305

Studies
Analysis of Specimens From Individuals With Pulmonary Fibrosis

NCT00084305

Sponsor

National Human Genome Research Institute (NHGRI)

Status

Active, not recruiting

Last Update Posted

Jul 2, 2026Actual

Enrollment

315Actual

Phase

Not provided

Conditions

Pulmonary Fibrosis
Healthy Volunteers
Hermansky-Pudlak Syndrome (HPS)

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
04-HG-0211

Status Module

Record Verification Date

Nov 6, 2025

Overall Recruitment Status or Expanded Access Status

Active, not recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 9, 2004Actual

Primary Completion Date

Not provided

Completion Date

Not provided

First Submitted Date

Jun 9, 2004

First Submission Date that Met QC Criteria

Jun 9, 2004

First Posted Date

Jun 10, 2004Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jul 1, 2026

Last Update Posted Date

Jul 2, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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 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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

315Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Family		Family members of patients with pulmonary fibrosis
Healthy Volunteers		Healthy Volunteers
Pulmonary Fibrosis		Patients with pulmonary fibrosis

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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.	Ongoing

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

INCLUSION CRITERIA:

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).

EXCLUSION CRITERIA:

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).

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

115 Years

Standard Ages

AdultOlder Adult

Study Population

Patients with pulmonary fibrosis@@@@@@

Sampling Method

Non-Probability Sample

Name	Affiliation	Role
Wendy J Introne, M.D.	National Human Genome Research Institute (NHGRI)	Principal Investigator

Facility	Status	City	State	ZIP	Country	Contacts
National Institutes of Health Clinical Center		Bethesda	Maryland	20892	United States

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
30369044	Derived	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.
29445374

ID	Term
D011658	Pulmonary Fibrosis
D022861	Hermanski-Pudlak Syndrome

ID	Term
D017563	Lung Diseases, Interstitial
D008171	Lung Diseases
D012140	Respiratory Tract Diseases
D005355	Fibrosis