Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
MONDO:0012465The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
Also known as: PIGM-CDG, GPI deficiency, GPID, congenital disorder of glycosylation due to PIGM deficiency, glycosylphosphatidylinositol biosynthesis defect 1, glycosylphosphatidylinositol deficiency
75 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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Can a supplement tame your cholesterol? new study seeks answers
Disease control Not yet recruitingThis study tests a dietary supplement called Cardiol Forte in 50 adults with mildly high cholesterol but low overall heart risk. Participants will take either the supplement or a placebo for 8 weeks, then everyone gets the supplement for another 8 weeks. The goal is to see if it …
Phase: NA • Sponsor: U.G.A. Nutraceuticals • Aim: Disease control
Last updated Jun 27, 2026 12:09 UTC
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New CAR-T therapy targets antibodies blocking Life-Saving transplants
Disease control Not yet recruitingThis early-stage study tests a new treatment using special immune cells (CAR-T cells) designed to reduce harmful antibodies that can prevent or damage bone marrow transplants. About 18 people with blood diseases who have these antibodies will receive the cells in increasing doses…
Phase: PHASE1, PHASE2 • Sponsor: Chang Yingjun • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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Could a feeding tube after transplant save the gut?
Disease control Not yet recruitingThis study tests whether starting tube feeding right after a stem cell transplant can reduce severe gut graft-versus-host disease (GVHD) in people with blood cancers or disorders. About 112 participants will be randomly assigned to either standard care or early tube feeding. The …
Phase: PHASE2 • Sponsor: University of Nebraska • Aim: Disease control
Last updated Jun 27, 2026 08:09 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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Ginger vs. heavy periods: a natural approach for women with bleeding disorders
Symptom relief Not yet recruitingThis study tests whether taking ginger powder for the first three days of each period can reduce heavy menstrual bleeding in women with coagulation disorders (bleeding problems). 74 women will be randomly assigned to receive either ginger or a placebo for six cycles. The goal is …
Phase: EARLY_PHASE1 • Sponsor: University of Valladolid • Aim: Symptom relief
Last updated Jun 27, 2026 12:35 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