Gaucher disease type III
MONDO:0009267Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
Also known as: Gaucher disease type III, Gaucher disease, Subacute neuronopathic type, Gaucher disease, chronic neuronopathic type, Gaucher disease, juvenile and adult, cerebral, Gaucher disease, subacute neuronopathic type, Gaucher's disease type III, cerebral juvenile and adult form of Gaucher disease, chronic neuronopathic Gaucher disease
12 clinical trials for this condition and its sub-types.
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New drug offers hope for brain symptoms in rare gaucher disease
Disease control AVAILABLEThis program provides early access to the experimental drug venglustat for children and adults with Type 3 Gaucher disease who have brain-related symptoms. Participants must be at least 12 years old, weigh at least 15 kg, and be stable on standard enzyme replacement therapy. The …
Sponsor: Sanofi • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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Groundbreaking trial aims to treat rare diseases in the womb
Disease control Recruiting nowThis study tests whether giving enzyme replacement therapy to fetuses with certain rare genetic diseases (like MPS I, Gaucher, or Pompe) before birth is safe and feasible. About 10 pregnant participants will receive the treatment through the umbilical vein. The goal is to see if …
Phase: PHASE1 • Sponsor: University of California, San Francisco • Aim: Disease control
Last updated Jun 27, 2026 11:02 UTC
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Can we outsmart Gaucher's hidden toll on lungs, bones, and brain?
Knowledge-focused Recruiting nowThis study follows 30 people with Gaucher disease who are receiving standard medical care to better understand how the condition affects the lungs, bones, and nervous system over time. Researchers will track changes in breathing, bone density, and neurological signs, along with b…
Sponsor: Yale University • Aim: Knowledge-focused
Last updated Aug 13, 2026 00:00 UTC
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New brain scan study seeks clues to rare gaucher disease
Knowledge-focused Recruiting nowThis study uses a special MRI technique called magnetic resonance spectroscopy to measure brain chemicals in adults with Type 3 Gaucher disease. The goal is to find markers that show how the disease affects the brain and how it responds to treatment. About 5 participants aged 18 …
Sponsor: University of Minnesota • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
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Cough medicine repurposed: ambroxol registry launches for rare brain diseases
Knowledge-focused Recruiting nowThis study creates a registry to collect real-world information on the safety and effectiveness of ambroxol, a common cough medicine, when used at higher doses for Gaucher disease or GBA-related Parkinson disease. Researchers aim to gather data from 300 patients worldwide who are…
Sponsor: Shaare Zedek Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:24 UTC