deltatrials
Recruiting OBSERVATIONAL NCT00001532

Role of Genetic Factors in the Development of Lung Disease

Role of Genetic Factors in the Pathogenesis of Lung Disease

Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

Conditions Asthma Cystic Fibrosis Pulmonary Fibrosis Pulmonary Sarcoidosis Tuberous Sclerosis
Updated 74 times since 2017 Last updated: Apr 23, 2026 Started: Sep 13, 1996
This information is for research purposes only and is not medical advice. Consult a healthcare provider before making any medical decision.

Listed as NCT00001532, this observational or N/A phase trial focuses on Asthma and Cystic Fibrosis and remains actively recruiting participants. Sponsored by National Heart, Lung, and Blood Institute (NHLBI), it has been updated 74 times since 1996, reflecting substantial change activity. This study adds to the evidence base for this therapeutic area through structured, versioned documentation.

Study Description(click to expand)

This study is designed to evaluate genetic mechanisms of lung disease by surveying polymorphic genes involved in respiratory function and examining gene expression in the lung cells of individuals with pulmonary disease (e.g., alpha 1-antitrypsin deficiency, asthma, chronic obstructive pulmonary disease, cystic fibrosis, sarcoidosis, history of infection, and genetic mutations consistent with lung pathology). Emphasis will be on defining the distribution of allelic variants of nitric oxide synthase, alpha 1-antitrypsin, and the cystic fibrosis transmembrane conductance regulator genes in patients and in age- and sex-matched healthy individuals in a control population.

This study is designed to evaluate genetic mechanisms of lung disease by surveying polymorphic genes involved in respiratory function and examining gene expression in the lung cells of individuals with pulmonary disease (e.g., alpha 1-antitrypsin deficiency, asthma, chronic obstructive pulmonary disease, cystic fibrosis, sarcoidosis, history of infection, and genetic mutations consistent with lung pathology). Emphasis will be on defining the distribution of allelic variants of nitric oxide synthase, alpha 1-antitrypsin, and the cystic fibrosis transmembrane conductance regulator genes in patients and in age- and sex-matched healthy individuals in a control population.

Status Flow

~Jan 2017 – ~Apr 2018 · 15 months · monthly snapshot~Apr 2018 – ~Jun 2018 · 2 months · monthly snapshot~Jun 2018 – ~Aug 2018 · 2 months · monthly snapshot~Aug 2018 – ~Sep 2018 · 31 days · monthly snapshot~Sep 2018 – ~Oct 2018 · 30 days · monthly snapshot~Oct 2018 – ~Nov 2018 · 31 days · monthly snapshot~Nov 2018 – ~Dec 2018 · 30 days · monthly snapshot~Dec 2018 – ~Jan 2019 · 31 days · monthly snapshot~Jan 2019 – ~Feb 2019 · 31 days · monthly snapshot~Feb 2019 – ~Mar 2019 · 28 days · monthly snapshot~Mar 2019 – ~Apr 2019 · 31 days · monthly snapshot~Apr 2019 – ~May 2019 · 30 days · monthly snapshot~May 2019 – ~Jun 2019 · 31 days · monthly snapshot~Jun 2019 – ~Jul 2019 · 30 days · monthly snapshot~Jul 2019 – ~Aug 2019 · 31 days · monthly snapshot~Aug 2019 – ~Sep 2019 · 31 days · monthly snapshot~Sep 2019 – ~Nov 2019 · 2 months · monthly snapshot~Nov 2019 – ~Dec 2019 · 30 days · monthly snapshot~Dec 2019 – ~Jan 2020 · 31 days · monthly snapshot~Jan 2020 – ~May 2020 · 4 months · monthly snapshot~May 2020 – ~Jun 2020 · 31 days · monthly snapshot~Jun 2020 – ~Jul 2020 · 30 days · monthly snapshot~Jul 2020 – ~Oct 2020 · 3 months · monthly snapshot~Oct 2020 – ~Nov 2020 · 31 days · monthly snapshot~Nov 2020 – ~Dec 2020 · 30 days · monthly snapshot~Dec 2020 – ~Jan 2021 · 31 days · monthly snapshot~Jan 2021 – ~Mar 2021 · 59 days · monthly snapshot~Mar 2021 – ~Apr 2021 · 31 days · monthly snapshot~Apr 2021 – ~Jun 2021 · 2 months · monthly snapshot~Jun 2021 – ~Sep 2021 · 3 months · monthly snapshot~Sep 2021 – ~Oct 2021 · 30 days · monthly snapshot~Oct 2021 – ~Jan 2022 · 3 months · monthly snapshot~Jan 2022 – ~Feb 2022 · 31 days · monthly snapshot~Feb 2022 – ~Mar 2022 · 28 days · monthly snapshot~Mar 2022 – ~Apr 2022 · 31 days · monthly snapshot~Apr 2022 – ~May 2022 · 30 days · monthly snapshot~May 2022 – ~Jun 2022 · 31 days · monthly snapshot~Jun 2022 – ~Jul 2022 · 30 days · monthly snapshot~Jul 2022 – ~Sep 2022 · 2 months · monthly snapshot~Sep 2022 – ~Nov 2022 · 2 months · monthly snapshot~Nov 2022 – ~Feb 2023 · 3 months · monthly snapshot~Feb 2023 – ~Mar 2023 · 28 days · monthly snapshot~Mar 2023 – ~Apr 2023 · 31 days · monthly snapshot~Apr 2023 – ~May 2023 · 30 days · monthly snapshot~May 2023 – ~Jun 2023 · 31 days · monthly snapshot~Jun 2023 – ~Jul 2023 · 30 days · monthly snapshot~Jul 2023 – ~Aug 2023 · 31 days · monthly snapshot~Aug 2023 – ~Sep 2023 · 31 days · monthly snapshot~Sep 2023 – ~Oct 2023 · 30 days · monthly snapshot~Oct 2023 – ~Dec 2023 · 2 months · monthly snapshot~Dec 2023 – ~Jan 2024 · 31 days · monthly snapshot~Jan 2024 – ~Feb 2024 · 31 days · monthly snapshot~Feb 2024 – ~Mar 2024 · 29 days · monthly snapshot~Mar 2024 – ~Apr 2024 · 31 days · monthly snapshot~Apr 2024 – ~May 2024 · 30 days · monthly snapshot~May 2024 – ~Jun 2024 · 31 days · monthly snapshot~Jun 2024 – ~Jul 2024 · 30 days · monthly snapshot~Jul 2024 – ~Sep 2024 · 2 months · monthly snapshot~Sep 2024 – ~Oct 2024 · 30 days · monthly snapshot~Oct 2024 – ~Dec 2024 · 2 months · monthly snapshot~Dec 2024 – ~Feb 2025 · 2 months · monthly snapshot~Feb 2025 – ~Mar 2025 · 28 days · monthly snapshot~Mar 2025 – ~Apr 2025 · 31 days · monthly snapshot~Apr 2025 – ~May 2025 · 30 days · monthly snapshot~May 2025 – ~Jun 2025 · 31 days · monthly snapshot~Jun 2025 – ~Jul 2025 · 30 days · monthly snapshot~Jul 2025 – ~Sep 2025 · 2 months · monthly snapshot~Sep 2025 – ~Nov 2025 · 2 months · monthly snapshot~Nov 2025 – ~Dec 2025 · 30 days · monthly snapshot~Dec 2025 – ~Jan 2026 · 31 days · monthly snapshot~Jan 2026 – ~Feb 2026 · 31 days · monthly snapshot~Feb 2026 – ~Apr 2026 · 2 months · monthly snapshotApr 16, 2026 – Apr 28, 2026 · 12 days · daily APIApr 28, 2026 – present · 44 days · daily API

Change History

74 versions recorded

  1. Apr 28, 2026 — Present [daily]

    Recruiting

  2. Apr 16, 2026 — Apr 28, 2026 [daily]

    Recruiting

  3. Feb 2026 — Apr 2026 [monthly]

    Recruiting

  4. Jan 2026 — Feb 2026 [monthly]

    Recruiting

  5. Dec 2025 — Jan 2026 [monthly]

    Recruiting

▶ Show 69 earlier versions

  1. Nov 2025 — Dec 2025 [monthly]

    Recruiting

  2. Sep 2025 — Nov 2025 [monthly]

    Recruiting

  3. Jul 2025 — Sep 2025 [monthly]

    Recruiting

  4. Jun 2025 — Jul 2025 [monthly]

    Recruiting

  5. May 2025 — Jun 2025 [monthly]

    Recruiting

  6. Apr 2025 — May 2025 [monthly]

    Recruiting

  7. Mar 2025 — Apr 2025 [monthly]

    Recruiting

  8. Feb 2025 — Mar 2025 [monthly]

    Recruiting

  9. Dec 2024 — Feb 2025 [monthly]

    Recruiting

  10. Oct 2024 — Dec 2024 [monthly]

    Recruiting

  11. Sep 2024 — Oct 2024 [monthly]

    Recruiting

  12. Jul 2024 — Sep 2024 [monthly]

    Recruiting

  13. Jun 2024 — Jul 2024 [monthly]

    Recruiting

  14. May 2024 — Jun 2024 [monthly]

    Recruiting

  15. Apr 2024 — May 2024 [monthly]

    Recruiting

  16. Mar 2024 — Apr 2024 [monthly]

    Recruiting

  17. Feb 2024 — Mar 2024 [monthly]

    Recruiting

  18. Jan 2024 — Feb 2024 [monthly]

    Recruiting

  19. Dec 2023 — Jan 2024 [monthly]

    Recruiting

  20. Oct 2023 — Dec 2023 [monthly]

    Recruiting

  21. Sep 2023 — Oct 2023 [monthly]

    Recruiting

  22. Aug 2023 — Sep 2023 [monthly]

    Recruiting

  23. Jul 2023 — Aug 2023 [monthly]

    Recruiting

  24. Jun 2023 — Jul 2023 [monthly]

    Recruiting

  25. May 2023 — Jun 2023 [monthly]

    Recruiting

  26. Apr 2023 — May 2023 [monthly]

    Recruiting

  27. Mar 2023 — Apr 2023 [monthly]

    Recruiting

  28. Feb 2023 — Mar 2023 [monthly]

    Recruiting

  29. Nov 2022 — Feb 2023 [monthly]

    Recruiting

  30. Sep 2022 — Nov 2022 [monthly]

    Recruiting

  31. Jul 2022 — Sep 2022 [monthly]

    Recruiting

  32. Jun 2022 — Jul 2022 [monthly]

    Recruiting

  33. May 2022 — Jun 2022 [monthly]

    Recruiting

  34. Apr 2022 — May 2022 [monthly]

    Recruiting

  35. Mar 2022 — Apr 2022 [monthly]

    Recruiting

  36. Feb 2022 — Mar 2022 [monthly]

    Recruiting

  37. Jan 2022 — Feb 2022 [monthly]

    Recruiting

  38. Oct 2021 — Jan 2022 [monthly]

    Recruiting

  39. Sep 2021 — Oct 2021 [monthly]

    Recruiting

    Phase: NA → None

  40. Jun 2021 — Sep 2021 [monthly]

    Recruiting NA

  41. Apr 2021 — Jun 2021 [monthly]

    Recruiting NA

  42. Mar 2021 — Apr 2021 [monthly]

    Recruiting NA

  43. Jan 2021 — Mar 2021 [monthly]

    Recruiting NA

  44. Dec 2020 — Jan 2021 [monthly]

    Recruiting NA

  45. Nov 2020 — Dec 2020 [monthly]

    Recruiting NA

  46. Oct 2020 — Nov 2020 [monthly]

    Recruiting NA

  47. Jul 2020 — Oct 2020 [monthly]

    Recruiting NA

  48. Jun 2020 — Jul 2020 [monthly]

    Recruiting NA

  49. May 2020 — Jun 2020 [monthly]

    Recruiting NA

  50. Jan 2020 — May 2020 [monthly]

    Recruiting NA

  51. Dec 2019 — Jan 2020 [monthly]

    Recruiting NA

  52. Nov 2019 — Dec 2019 [monthly]

    Recruiting NA

    Phase: None → NA

  53. Sep 2019 — Nov 2019 [monthly]

    Recruiting

  54. Aug 2019 — Sep 2019 [monthly]

    Recruiting

  55. Jul 2019 — Aug 2019 [monthly]

    Recruiting

  56. Jun 2019 — Jul 2019 [monthly]

    Recruiting

  57. May 2019 — Jun 2019 [monthly]

    Recruiting

  58. Apr 2019 — May 2019 [monthly]

    Recruiting

  59. Mar 2019 — Apr 2019 [monthly]

    Recruiting

  60. Feb 2019 — Mar 2019 [monthly]

    Recruiting

  61. Jan 2019 — Feb 2019 [monthly]

    Recruiting

  62. Dec 2018 — Jan 2019 [monthly]

    Recruiting

  63. Nov 2018 — Dec 2018 [monthly]

    Recruiting

  64. Oct 2018 — Nov 2018 [monthly]

    Recruiting

  65. Sep 2018 — Oct 2018 [monthly]

    Recruiting

  66. Aug 2018 — Sep 2018 [monthly]

    Recruiting

  67. Jun 2018 — Aug 2018 [monthly]

    Recruiting

  68. Apr 2018 — Jun 2018 [monthly]

    Recruiting

    Phase: NA → None

  69. Jan 2017 — Apr 2018 [monthly]

    Recruiting NA

    First recorded

Sep 1996

Trial started

Per CT.gov start date — pre-dates our first snapshot

Eligibility Summary

This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease. The study will focus on defining the distribution of abnormal genes responsible for processes directly involved in different diseases affecting the lungs of patients and healthy volunteers. Optional CT Sub-study The standard CT scan will be compared to the low dose radiation CT scan for the 150 subjects enrolled in the sub-study to assess the variation between the two techniques. Specifically, the quantitative computer aided detection of lung CT abnormalities from LAM can be compared to assess whether low radiation dose CT exams is an alternative to conventional CT to monitor disease status. This optional sub-study will be offered to up to 100 adult subjects with lung disease and up to 50 children age 9 and older with CF. Children will not be enrolled in the optional CT sub-study unless they have had a standard CT scan for medical purposes to use in comparison. One additional low dose radiation CT scan of the chest may be done as part of this sub-study when these subjects have their next annual CT scan.

Contact Information

Sponsor contact:
  • National Heart, Lung, and Blood Institute (NHLBI)
  • Suburban Hospital
Data source: ClinicalTrials.gov

For direct contact, visit the study record on ClinicalTrials.gov .

Study Locations