X-linked diffuse leiomyomatosis-Alport syndrome
MONDO:0010641A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Also known as: Xq22.3 microdeletion syndrome, ATS-DL, Alport syndrome and diffuse leiomyomatosis, Alport syndrome with diffuse leiomyomatosis, DL-ATS, chromosome Xq22.3 centromeric deletion syndrome, diffuse leiomyomatosis in Alport syndrome, leiomyomatosis, diffuse, with Alport syndrome
17 clinical trials for this condition and its sub-types.
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Broader categories
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Can a common supplement shield dialysis Kids' hearts?
Disease control ENROLLING_BY_INVITATIONThis study tests whether a daily dose of alpha lipoic acid, an antioxidant supplement, can lower the risk of heart problems in 50 children who are on regular hemodialysis. Participants will either take the supplement or a placebo pill for a period, and researchers will monitor fo…
Phase: PHASE3 • Sponsor: Ain Shams University • Aim: Disease control
Last updated Jun 27, 2026 09:09 UTC
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Could a diabetes drug shield Kids' kidneys?
Disease control OngoingThis study tests whether dapagliflozin, a drug used in adults for diabetes and kidney protection, can reduce protein leakage in the urine of children with chronic kidney disease. Ten children aged 4 to 18 with persistent proteinuria despite standard therapy will take the drug, an…
Phase: NA • Sponsor: Al-Quds University • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC
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New study aims to unlock mysteries of sex chromosome disorders in children
Knowledge-focused ENROLLING_BY_INVITATIONThis study follows 300 fetuses and children with sex chromosome disorders to track their growth, organ development, and overall health. Researchers will also look at genetic and gut microbiome factors. The goal is to better understand how these conditions affect children over tim…
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Scientists probe genetic secrets of lost fetuses to unravel sex chromosome mysteries
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at fetuses with sex chromosome disorders (like extra or missing X or Y chromosomes) that were either miscarried or electively aborted. Researchers will analyze the placenta and fetal tissues to see how the chromosome changes affect gene activity and development. …
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC
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10,000 genomes scoured for clues to rare brain diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.
Sponsor: Karolinska Institutet • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:56 UTC
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300 volunteers help create medical image bank for science
Knowledge-focused OngoingThis study gathers MRI, CT, and ultrasound images from 300 adults—some healthy, some with kidney or brain disease—to build a collection for future not-for-profit research. No new treatments are being tested; the goal is to make medical images available to scientists for advancing…
Sponsor: Mario Negri Institute for Pharmacological Research • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:28 UTC