Gaucher disease
MONDO:0018150Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
Also known as: Gaucher disease, Gaucher syndrome, acid beta-glucosidase deficiency, glucocerebrosidase deficiency, glucocerebrosidosis, glucosylceramidase deficiency, glucosylceramide beta-glucosidase deficiency, lipoid histiocytosis (kerasin type)
44 clinical trials for this condition and its sub-types.
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Broader categories
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New oral drug shows promise for kids with gaucher disease
Disease control CompletedThis study tested the safety and effectiveness of eliglustat, an oral medication, in 57 children aged 2 to 17 with Gaucher disease types 1 and 3. Some children also received the standard enzyme therapy imiglucerase. Researchers measured how the drug moves through the body, side e…
Phase: PHASE3 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Gene therapy trial aims to fix enzyme defect in gaucher disease
Disease control CompletedThis early-stage trial tested a new gene therapy called FLT201 in 10 adults with Gaucher disease type 1. The therapy uses a harmless virus to deliver a working copy of the gene that produces a missing enzyme. The main goal was to check safety and see if the treatment can boost en…
Phase: PHASE1 • Sponsor: Spur Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Japanese study checks safety of gaucher drug VPRIV in Real-World use
Disease control CompletedThis completed study in Japan looked at the safety and effectiveness of the drug VPRIV (velaglucerase alfa) in 63 people with Gaucher disease. Participants were either new to treatment or switching from another Gaucher therapy. The main goal was to track side effects and serious …
Sponsor: Takeda • Aim: Disease control
Last updated Jun 27, 2026 09:11 UTC
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Enzyme therapy shows promise for rare gaucher type 3 in small chinese study
Disease control CompletedThis study tested the enzyme replacement drug imiglucerase (Cerezyme) in 12 Chinese patients with Gaucher disease type 3, a rare genetic disorder that affects the brain and body. Participants received the highest approved dose (60 units per kilogram) every two weeks for one year.…
Phase: PHASE4 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 26, 2026 17:18 UTC
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Scanners peer into brains of gaucher and parkinson patients
Knowledge-focused CompletedThis completed study used PET and MRI scans to compare brain dopamine function in people with Gaucher disease or Parkinson disease, their family members, and healthy volunteers. Researchers aimed to see if certain genetic mutations cause early changes in dopamine storage. The stu…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 18, 2026 04:00 UTC
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Blood test uncovers rare diseases in patients with mysterious enlarged spleen
Knowledge-focused CompletedThis study looked for two rare genetic diseases, Gaucher disease and acid sphingomyelinase deficiency (ASMD), in 122 adults with an unexplained enlarged spleen or who had their spleen removed for unknown reasons. Researchers used a simple blood spot test to check enzyme activity …
Sponsor: Fundación Española de Hematología y Hemoterapía • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC
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Could an antioxidant help gaucher disease? new study investigates
Knowledge-focused CompletedThis study measured levels of brain chemicals related to oxidative stress and inflammation in people with type 1 Gaucher disease and healthy volunteers. Researchers gave 33 participants with Gaucher disease the antioxidant N-acetylcysteine (NAC) for about 90 days to see if it cha…
Phase: PHASE2 • Sponsor: University of Minnesota • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
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Why do some kids have an enlarged spleen? new study investigates
Knowledge-focused CompletedThis study examined 60 children under 18 with an unexplained enlarged spleen to see how often rare diseases like Gaucher disease were the cause. Researchers ruled out common reasons first, then tested for specific enzyme deficiencies. The goal was to better understand what hidden…
Sponsor: Sanofi • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC