Inherited lipid metabolism disorder

This study tested an experimental drug called ARO-ANG3 in 18 people with homozygous familial hypercholesterolemia (HoFH), a rare genetic condition causing extremely high cholesterol. Participants received injections of the drug and were monitored for safety and cholesterol change…

This early-stage trial tested a new drug called LY3885125 in people with high cholesterol (dyslipidemia) and non-alcoholic fatty liver disease (NAFLD). The main goal was to check safety and how the body processes the drug. The study was terminated, meaning it stopped early, so it…

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 study tested an experimental drug called tildacerfont in 67 children aged 2 to 17 with congenital adrenal hyperplasia (CAH), a genetic condition that disrupts hormone production. The goal was to see if adding this once-daily pill to standard steroid treatment could improve d…

This early-phase study tested a drug called abiraterone acetate (normally used for prostate cancer) in 4 children with congenital adrenal hyperplasia (CAH). The goal was to see if it could lower high male hormone levels and reduce the need for strong steroid medications that can …

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 study tested a daily tablet called Tildacerfont in 100 adults with classic congenital adrenal hyperplasia, a condition where the body can't make certain hormones properly. The goal was to see if the drug could safely reduce the high doses of steroids patients need to take. T…

This study tested whether pemafibrate, a drug that lowers triglycerides, could reduce heart attacks, strokes, and heart-related deaths in over 10,000 people with type 2 diabetes and high triglycerides. Participants took either pemafibrate or a placebo twice daily. The trial was t…

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 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 aimed to help children aged 6-8 from low-income families learn how to avoid foods they are allergic to. The program used fun, hands-on activities to teach safety skills. The study was stopped early, so we don't have clear results on whether it worked.

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.