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Scientists hunt for genetic clues in rare lung disease

NCT ID NCT02439528

First seen Jan 04, 2026 · Last updated May 22, 2026 · Updated 20 times

Summary

This study looked at the genetics of a rare lung condition called combined pulmonary fibrosis and emphysema (CPFE) syndrome, which causes both scarring and air sac damage. Researchers compared 250 participants, including patients with CPFE, those with only scarring or only emphysema, and healthy people. They measured telomere length (a marker of aging in cells) and searched for specific gene mutations to better understand what causes this disease.

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Contacts and locations

Locations

  • Hôpital Albert Michallon, CHU de Grenoble

    Grenoble, 38 043, France

  • Hôpital Nord, CHU de Saint-Etienne

    Saint-Etienne, 42055, France

  • Hôpital pneumologique et cardiovasculaire Louis Pradel, HCL

    Bron, 69677, France

Conditions

Explore the condition pages connected to this study.