Identifying genetic factors in early-onset COPD

Genetic Epidemiology of Severe, Early-Onset Chronic Obstructive Pulmonary Disease

Observational Brigham and Women's Hospital · NCT01177618

This study is trying to find out if certain genes make younger people with severe COPD more likely to develop the condition, even if they don't smoke.

Quick facts

Study typeObservational
Enrollment2000 (estimated)
SexAll
SponsorBrigham and Women's Hospital Academic / other
Locations1 site (Boston, Massachusetts)
Trial IDNCT01177618 on ClinicalTrials.gov

What this trial studies

This observational study focuses on individuals with severe chronic obstructive pulmonary disease (COPD) who are 52 years old or younger. The aim is to identify genetic factors that may predispose certain individuals to develop COPD, despite the common risk factor of cigarette smoking. Participants will undergo a respiratory questionnaire, breathing tests, and blood draws, which can be conducted at home or through remote data collection. The findings could lead to new treatment methods for those affected by COPD.

Who should consider this trial

Good fit: Ideal candidates are individuals diagnosed with severe COPD at an early age (52 years or younger) with specific spirometry results.

Not a fit: Patients with severe alpha-1 antitrypsin deficiency or other chronic lung diseases may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and treatment options for individuals at risk of developing COPD.

How similar studies have performed: Previous studies have shown success in identifying genetic factors related to COPD, making this approach promising.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria for Early-Onset COPD Probands:

* Early onset of COPD in individuals younger than 53 years old
* Spirometry results that are indicative of severe COPD (FEV1 \< 40% predicted)
* Physician-diagnosed COPD

Exclusion Criteria for Early-Onset COPD Probands:

* Severe alpha-1 antitrypsin deficiency
* Other chronic lung diseases in participants with COPD (except asthma)
* Pregnant
* Any previous lung surgery including lung transplant or lung reduction volume surgery (LVRS); unless prior Pulmonary Function Tests are available

Where this trial is running

Boston, Massachusetts

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Chronic Obstructive Pulmonary DiseaseCOPDEmphysemaChronic BronchitisGeneticsAssociation Studies
Last reviewed 2026-06-09 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.