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Familial hypocalciuric hypercalcemia 3
MONDO:0010926Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.
Also known as: AP2S1 familial hypocalciuric hypercalcemia, FHH type 3, HHC3, familial hypocalciuric hypercalcemia caused by mutation in AP2S1, familial hypocalciuric hypercalcemia type 3, hpocalciuric hypercalcemia, type III, FBH3, FBHOk
96 clinical trials for this condition and its sub-types.
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 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…
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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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 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