Gaucher disease type II
MONDO:0009266Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
Also known as: Gaucher disease type II, Gaucher disease, acute neuronopathic type, Gaucher's disease type II, acute neuronopathic Gaucher disease, infantile cerebral Gaucher disease, Gaucher disease type 2, Gaucher disease, infantile cerebral, Gaucher disease, type 2
5 clinical trials for this condition and its sub-types, 5 tagged with Gaucher disease type II itself.
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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 1 • 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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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
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New registry aims to unlock secrets of rare childhood diseases
Knowledge-focused Recruiting nowThis study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC