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
60 clinical trials for this condition and its sub-types, 0 tagged with Interstitial lung disease due to ABCA3 deficiency itself.
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Can a smarter oxygen device help lung disease patients move more?
Symptom relief By invitation onlyThis study tests whether using a portable oxygen concentrator (a lightweight, battery-powered device) during walking or exercise helps people with interstitial lung disease (ILD) or COPD feel less breathless and be more active in their daily lives. Twenty-four participants will t…
Sponsor: State University of New York at Buffalo • Aim: Symptom relief
Last updated Sep 11, 2026 00:00 UTC
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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…
Sponsor: Copenhagen University Hospital, Hvidovre • Aim: Symptom relief
Last updated Jun 27, 2026 11:00 UTC
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Can a radioactive tracer reveal hidden lung scarring?
Knowledge-focused OngoingThis study tests whether a radioactive tracer called 68Ga-FAPi-46 can light up areas of scarring (fibrosis) in the lungs of people with interstitial lung disease. Participants receive the tracer and undergo a PET/CT scan to see where it collects. The goal is to understand how the…
Early phase 1 • Sponsor: University of California, Los Angeles • Aim: Knowledge-focused
Last updated Aug 22, 2026 00:00 UTC
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Could gentle exercise with blood flow restriction help lung disease patients?
Knowledge-focused OngoingThis study tests whether low-intensity aerobic exercise with blood flow restriction (BFR) is safe and effective for people with interstitial lung disease (ILD). BFR uses a cuff to partially block blood flow, which may help build muscle with less strain. Thirty participants will t…
Sponsor: Gazi University • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
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Scientists hunt for clues in the blood to predict lung fibrosis outcomes
Knowledge-focused By invitation onlyThis 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