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CompletedNCT00106470Updated Dec 17, 2012

Genetic Factors That Influence Chronic Obstructive Pulmonary Disease in Hispanics

An observational study in Pulmonary Disease, Chronic Obstructive and Lung Diseases, Obstructive, sponsored by University of Pittsburgh. Completed at 1 site in Costa Rica. Open to participants aged 21 Years to 65 Years. Per ClinicalTrials.gov, last updated 2012-12-17.

Sponsored by University of Pittsburgh · Observational

Study type
Observational
Model
Family-based
Time perspective
Cross-sectional
Enrollment
679
Ages
21 Years to 65 Years
Sex
All
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Study summary

The purpose of this study is to examine genetic factors that influence the development of chronic obstructive pulmonary disease (COPD) in Hispanics, a minority group at high risk for the disease.

Read the detailed description

DESIGN NARRATIVE:

This study will concentrate on a genetically isolated Hispanic population with a high prevalence of COPD living in the Central Valley of Costa Rica. Nine hundred individuals from descendants of the Costa Rican Central Valley founder population will be enrolled. To identify regions of the genome that are likely to contain genetic determinants of COPD-related phenotypes in this population, the study will collect phenotypic and genotypic data on 30 large families with a history of moderate to severe COPD that have multiple individuals affected with smoking-related airflow obstruction. A genome scan will be conducted on these individuals using short-tandem repeat (STR) markers. Linkage analysis will be performed on 6 COPD-related phenotypes, which will include the following: 1) chronic bronchitis; 2) airflow obstruction; 3) forced expiratory volume in one second (FEV1); 4) FEV1/FVC[forced vital capacity];5) bronchodilator responsiveness; and 6) total serum immunoglobulin E. Within genomic regions demonstrating linkage to COPD-related phenotypes in the genome scan, narrowly spaced STR markers will be genotyped and tested for linkage between these markers and COPD-related phenotypes. Within selected genomic regions, the association will be tested between single nucleotide polymorphisms (SNPs) in candidate genes and COPD-related phenotypes. By enrolling a large number of participants of a genetically isolated population and utilizing a family-based study design, this study should be able to address an important yet unstudied issue: the genetic influences on the expression of the COPD phenotype in Hispanics.

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Conditions studied

  • Pulmonary Disease, Chronic Obstructive
  • Lung Diseases, Obstructive

Keywords

  • Chronic Obstructive Pulmonary Disease
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In context

Lung Diseases

3,303 studies on the registry are indexed under Lung Diseases; 355 are open to participants now.

This study's enrollment of 679 is above the median of 157 across 929 observational studies indexed under Lung Diseases.

Browse Lung Diseases studies →

Lead sponsor

University of Pittsburgh is the lead sponsor of 1,384 studies on the registry; 166 are open to participants now.

Of its 8 completed or terminated interventional studies of FDA-regulated products, 4 (50%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
21 Years to 65 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Families of individuals with physician-diagnosed COPD and smoking-related airflow obstruction who are younger than 71 years.

Inclusion criteria

  • COPD
  • Reduced FEV1 after administration of bronchodilator (less than or equal to 60% of predicted value)
  • At least six great-grandparents born in the Central Valley of Costa Rica
  • At least one sibling with a history of smoking (10 or more packs per year)

Exclusion criteria

Exclusion Criteria:

  • Chronic respiratory disorder other than COPD (as determined by a questionnaire and high-resolution CT chest scan)
  • Severe alpha 1-antitrypsin deficiency
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Study design

Observational model
Family-based
Time perspective
Cross-sectional
Enrollment
679 participants (actual)
Biospecimen retention
Samples with dna
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What researchers measure

Primary outcomes

  1. Genetic factors that influence the development of COPD in Hispanics.

    Time frame: Measured through the use of genetic samples

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Study locations

1 site
  • Hospital Nacional de Niños
    San José, Costa Rica
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References and documents

Publications

  • Hunninghake GM, Weiss ST, Celedon JC. Asthma in Hispanics. Am J Respir Crit Care Med. 2006 Jan 15;173(2):143-63. doi: 10.1164/rccm.200508-1232SO. Epub 2005 Oct 6. PubMed 16210666 ↗
  • Brehm JM, Celedon JC. Chronic obstructive pulmonary disease in Hispanics. Am J Respir Crit Care Med. 2008 Mar 1;177(5):473-8. doi: 10.1164/rccm.200708-1274PP. Epub 2007 Nov 20. PubMed 18029789 ↗
  • Brehm JM, Hagiwara K, Tesfaigzi Y, Bruse S, Mariani TJ, Bhattacharya S, Boutaoui N, Ziniti JP, Soto-Quiros ME, Avila L, Cho MH, Himes B, Litonjua AA, Jacobson F, Bakke P, Gulsvik A, Anderson WH, Lomas DA, Forno E, Datta S, Silverman EK, Celedon JC. Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease. Thorax. 2011 Dec;66(12):1085-90. doi: 10.1136/thoraxjnl-2011-200017. Epub 2011 Sep 15. PubMed 21921092 ↗
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Dec 17, 2012, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00106470
Lead sponsor
University of Pittsburgh
Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Responsible party
Sponsor
First posted
Mar 25, 2005
Start date
Feb 2005
Primary completion
Jan 2010
Completion
Jan 2010
Last update
Dec 17, 2012

Study contacts

Juan C. Celedon, MD, DrPH
study chair · University of Pittsburgh

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Dec 2012. You cannot join it, but the record below documents what was studied.

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