Marinesco-Sjogren syndrome
MONDO:0009567Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
Also known as: MSS, Marinesco-Sjogren syndrome, Marshall Smith Syndrome, Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism, Marinesco-Sjogren syndrome-myopathy, Marinesco-Sjogren-Garland syndrome, Marinesco-Sjögren syndrome
27 clinical trials for this condition and its sub-types.
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New cocktail approach aims to wipe out High-Risk rectal cancer without surgery
Disease control CompletedThis phase 2 trial tests a powerful mix of short-course radiation, chemotherapy (mFOLFOX6), an immunotherapy (PD-1 antibody), and a targeted drug (cetuximab or bevacizumab, depending on genetic markers) in people with high-risk rectal cancer that is mismatch repair proficient (pM…
Phase: PHASE2 • Sponsor: Sixth Affiliated Hospital, Sun Yat-sen University • Aim: Disease control
Last updated Aug 06, 2026 00:00 UTC
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New combo therapy targets hard-to-treat liver metastases in colorectal cancer
Disease control CompletedThis trial tests a personalized treatment plan for people with advanced colorectal cancer that has spread to the liver and stopped responding to standard treatments. The approach combines a liver-directed chemotherapy (HAIC), a targeted therapy (fruquintinib or cetuximab), and an…
Phase: NA • Sponsor: Peking University • Aim: Disease control
Last updated Jul 30, 2026 00:00 UTC
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Brain study sheds light on Parkinson's and tics
Knowledge-focused CompletedThis completed study from the National Institute of Neurological Disorders and Stroke aimed to better understand how the brain controls movement and what goes wrong in movement disorders like Parkinson's disease, Tourette's syndrome, and dystonia. Over 1,200 adults—both patients …
Phase: NA • Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Wrist-Worn gadget could help doctors monitor Parkinson's at home
Knowledge-focused CompletedThis study tested a wrist-worn device called the Personal KinetiGraph (PKG) to see if it can accurately measure movement problems in people with Parkinson's disease. Nineteen participants wore the device while researchers compared its readings to standard clinical tests and video…
Sponsor: Global Kinetics Corporation • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC