Lysosomal storage 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 Phase 3 trial tested an oral drug called venglustat in 75 adults and children with late-onset Tay-Sachs or Sandhoff disease, rare genetic disorders that cause progressive nerve damage. The drug aimed to lower toxic fat buildup in the brain and slow disease worsening. However…

This early-phase trial tested a new immunotherapy approach for children with DIPG, a rare and aggressive brain stem tumor. After standard radiation and chemotherapy, patients received special vaccines and immune cells designed to attack the tumor. The study was small (11 particip…

This phase 3 trial tested the drug miglustat (Zavesca) in 30 infants with Sandhoff or Tay-Sachs diseases, rare genetic disorders that destroy nerve cells. The goal was to see if the drug could reduce hospitalizations, seizures, and feeding problems while improving motor function.…

This study tested an oral drug called duvoglustat in adults with Pompe disease, a rare genetic disorder that causes muscle weakness. Only 3 people took part, and the study was stopped early. Researchers looked at safety and whether the drug could improve walking distance and othe…

This early-stage trial tested a gene therapy called AXO-AAV-GM2 in children with Tay-Sachs or Sandhoff disease, rare and fatal genetic brain disorders. The therapy delivers healthy genes directly into the brain and spinal fluid to try to restore a missing enzyme. The study was te…

This study aimed to find out how common sperm problems are in men with Fabry disease. Researchers planned to check sperm samples from 22 men aged 18 to 65. The study was stopped early, so results are limited.

This study followed 7 people with Mucolipidosis Type IV (MLIV) to learn how the disease naturally progresses. Researchers used tests like neuropsychological exams, blood and urine tests, and brain MRIs to find better ways to measure the disease. The goal was to improve future cli…

This study follows up on children with Krabbe disease who received a one-time gene therapy infusion (FBX-101) in earlier trials. Researchers will monitor safety and measure motor skills over time. Only 2 participants are enrolled, so results are very limited.