Inborn disorder of amino acid and other organic acid metabolism

This study looked at the long-term safety of the drug NBI-921352 for people with a rare genetic seizure disorder called SCN8A-DEE. It was an extension of an earlier study, and participants took the drug alongside their usual seizure medications. The study was stopped early and on…

This study tested an mRNA therapy called mRNA-3705 in 18 people with a rare genetic condition called methylmalonic acidemia, which causes harmful acid buildup. The therapy aimed to help the body produce a missing enzyme to lower acid levels. The trial was terminated early, so fin…

This study tested a new amino acid formula called PKU GOLIKE in people aged 16 and older with phenylketonuria (PKU). The goal was to see if it could better control daily swings in blood phenylalanine levels compared to standard treatment. The study was stopped early, so results a…

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 an experimental drug called NBI-921352 in people aged 2 to 21 with a rare, severe form of epilepsy caused by a change in the SCN8A gene. The goal was to see if adding this drug to their current seizure medicines could reduce how often they had seizures. The tria…

This study tested a new medicine called ARCT-810 in 8 people aged 12 to 65 with ornithine transcarbamylase (OTC) deficiency, a rare genetic disorder that causes dangerous ammonia buildup. The main goal was to check the drug's safety and how the body processes it. The trial was st…

This study looks at adults with phenylketonuria (PKU) who were diagnosed as newborns and treated with a special diet. Researchers want to see if how long and how strictly they followed the diet as children affects their intelligence (IQ) as adults. The goal is to use this informa…