Gaucher disease

This study tested high doses of Ambroxol, a common cough medicine, in 12 children aged 3 to 18 with Type 3 Gaucher disease, a rare genetic disorder affecting the brain and body. The goal was to see if it is safe and can improve movement problems like ataxia. The trial took place …

This 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…

This 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…

This 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 …

This 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.…

Researchers at Nantes University Hospital are studying how the immune system behaves in adults with Gaucher disease. The study collects one blood sample from each participant to measure macrophage activity and immune cell profiles. The goal is to understand how different parts of…

This 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…

This study uses advanced PET brain scans to measure dopamine, acetylcholine, and tau protein levels in people with GBA gene mutations, both with and without Parkinson's disease. Researchers also analyze typing patterns on a computer or touchscreen to detect subtle motor changes. …

This 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 …

This 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…

This 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…