Interstitial lung disease due to ABCA3 deficiency
MONDO:0012582Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.
Also known as: interstitial lung disease due to ABCA3 deficiency, interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency, surfactant metabolism dysfunction, pulmonary, type 3, SMDP3, pulmonary alveolar proteinosis, congenital, 3, surfactant metabolism dysfunction, pulmonary, 3
68 clinical trials for this condition and its sub-types.
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Can remote rehab help lung patients breathe easier?
Symptom relief OngoingThis pilot study tests whether home-based or video-supervised exercise programs are acceptable and helpful for people with chronic lung diseases like IPF, sarcoidosis, bronchiectasis, asthma, and other interstitial lung diseases. Fifty participants will be randomly assigned to on…
Phase: NA • Sponsor: Copenhagen University Hospital, Hvidovre • Aim: Symptom relief
Last updated Jun 27, 2026 11:00 UTC
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Scientists hunt for clues in the blood to predict lung fibrosis outcomes
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks for biological markers in blood and lung samples from people with idiopathic pulmonary fibrosis (IPF) and other interstitial lung diseases. The goal is to find markers that can predict how the disease will progress and to group patients into subtypes. Researchers…
Sponsor: University of Edinburgh • Aim: Knowledge-focused
Last updated Jul 01, 2026 00:00 UTC
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Lung disease study probes hidden environmental triggers
Knowledge-focused OngoingThis study looks at how things in the environment and at work might affect people with interstitial lung diseases (a group of lung conditions). Researchers will ask 1,000 adults with a new diagnosis about their exposures to things like pollution, chemicals, and dust. The goal is …
Sponsor: Istituto Clinico Humanitas • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC
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New breath test could replace painful lung scopes
Knowledge-focused ENROLLING_BY_INVITATIONThis study aims to see if a simple, non-invasive breathing test can accurately measure the acidity (pH) in the airways, which is often abnormal in lung diseases. Researchers will compare results from this breath test with standard methods in 150 healthy volunteers and people with…
Phase: PHASE2 • Sponsor: Indiana University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC
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Brain scans reveal hidden links between body diseases and metabolism
Knowledge-focused OngoingThis study watches 200 people with lung, gut, or hormone diseases over time using special brain scans (PET). It aims to see how these diseases change brain activity and whether those changes can predict tumor return, spread, or survival. No new treatment is tested—just observatio…
Sponsor: The First Affiliated Hospital of Zhengzhou University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC