Dyneinopathy
MONDO:1040031A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes.
200 clinical trials for this condition and its sub-types.
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Broader categories
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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
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VR headsets tested as a possible treatment for blindness
Disease control TerminatedThis study tested whether using a virtual reality headset for one-hour sessions could help regenerate damaged optic nerves and improve vision in people with glaucoma or other retinal diseases. The idea came from promising results in rodents. However, the trial was terminated earl…
Phase: NA • Sponsor: Stanford University • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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New eye scanner software could sharpen diagnosis of macular degeneration
Diagnosis TerminatedThis study tested a new software called AngioScan, used with an already-approved eye camera, to see if it can take better pictures of the back of the eye. Researchers looked at 150 patients with retinal problems like macular degeneration. The goal was to find out if the software …
Sponsor: University of California, Los Angeles • Aim: Diagnosis
Last updated Jun 27, 2026 12:10 UTC
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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