Arterial tortuosity-bone fragility syndrome
MONDO:0971179A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood.
Also known as: EMILIN1-related arterial tortuosity syndrome
192 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Heart drug tested to fight COVID-19 complications
Disease control TerminatedThis study tested a drug called CardiolRx in 90 hospitalized COVID-19 patients who also had heart disease or risk factors like diabetes or high blood pressure. The goal was to see if the drug could lower the chance of death, needing intensive care, or having heart problems. The t…
Phase: PHASE2, PHASE3 • Sponsor: Cardiol Therapeutics Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
-
Painkiller showdown: which is safer for the heart?
Knowledge-focused TerminatedThis study looked at how two common pain relievers—celecoxib (a Coxib) and naproxen (an NSAID)—affect blood clotting in people with rheumatoid arthritis who also have heart disease or are at high risk for it. All participants took low-dose aspirin daily. The goal was to see if on…
Phase: PHASE4 • Sponsor: Platelet and Thrombosis Research, LLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC
-
Scientists gather leftover surgical tissue to unlock secrets of bone disease
Knowledge-focused TerminatedThis study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …
Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC