Analysis of Specimens From Individuals With Pulmonary Fibrosis

• ClinicalTrials.gov Identifier: NCT00084305
• Recruitment Status: Recruiting
• First Posted: June 10, 2004
• Last Update Posted: March 29, 2024
• Sponsor: National Human Genome Research Institute (NHGRI)
• Information provided by (Responsible Party): National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Tracking Information

• First Submitted Date: June 9, 2004
• First Posted Date: June 10, 2004
• Last Update Posted Date: March 29, 2024
• Actual Study Start Date: June 9, 2004
• Primary Completion Date: Not Provided

Current Primary Outcome Measures (submitted: April 12, 2019)

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.

• Original Primary Outcome Measures: Not Provided
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Analysis of Specimens From Individuals With Pulmonary Fibrosis
• Official Title: Analysis of Specimens From Individuals With Pulmonary Fibrosis
• 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: 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 Type: Observational
• Study Design: Observational Model: Cohort; Time Perspective: Cross-Sectional
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• Sampling Method: Non-Probability Sample
• Study Population: Patients with pulmonary fibrosis@@@@@@

Condition

• Pulmonary Fibrosis
• Healthy Volunteers
• Hermansky-Pudlak Syndrome (HPS)

• Intervention: Not Provided

Study Groups/Cohorts

• Family
  Family members of patients with pulmonary fibrosis
• Healthy Volunteers
  Healthy Volunteers
• Pulmonary Fibrosis
  Patients with pulmonary fibrosis

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.
• El-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.

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: December 6, 2008): 500
• Original Enrollment (submitted: June 23, 2005): 99999
• Study Completion Date: Not Provided
• Primary Completion Date: Not Provided

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).

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years to 115 Years (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Contacts

Contact: Wendy J Introne, M.D.; (301) 451-8879; wi2p@nih.gov

• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT00084305
• Other Study ID Numbers: 040211; 04-HG-0211
• Has Data Monitoring Committee: Not Provided

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Current Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
• Original Responsible Party: Not Provided
• Current Study Sponsor: National Human Genome Research Institute (NHGRI)
• Original Study Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
• Collaborators: Not Provided

Investigators

• Principal Investigator: Wendy J Introne, M.D.; National Human Genome Research Institute (NHGRI)

• PRS Account: National Institutes of Health Clinical Center (CC)
• Verification Date: January 9, 2024