SLC35A2-congenital disorder of glycosylation
MONDO:0010478SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
Also known as: CDG syndrome type IIm, CDG-IIm, CDG2M, SLC35A2-CDG, SLC35A2-congenital disorder of glycosylation, congenital disorder of glycosylation type 2m, congenital disorder of glycosylation type IIm, congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant
31 clinical trials for this condition and its sub-types.
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New hope for kids: drug may prevent transplant complications
Disease control Not yet recruitingThis study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…
Phase: PHASE2 • Sponsor: Sung Won Choi • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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Sugar supplement may calm seizures and stomach troubles in rare genetic disease
Disease control Not yet recruitingThis study tests whether a sugar called D-galactose (AVTX-801) can help people with SLC35A2-CDG, a rare inherited disorder that disrupts how the body adds sugar to proteins. The trial enrolls about 10 people of any age who have seizures or chronic digestive issues. Participants r…
Phase: PHASE2 • Sponsor: Eva Morava-Kozicz • Aim: Disease control
Last updated Jul 01, 2026 00:00 UTC
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AI could help spot rare metabolic diseases in newborns
Diagnosis Not yet recruitingThis trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…
Phase: NA • Sponsor: The Children's Hospital of Zhejiang University School of Medicine • Aim: Diagnosis
Last updated Jun 27, 2026 09:00 UTC
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Massive diabetes registry aims to unlock secrets of metabolic disease
Knowledge-focused Not yet recruitingThis 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC