Lysosomal storage disease with skeletal involvement

This study followed 21 boys with Hunter syndrome who started taking Elaprase before age 6. Researchers tracked their height and weight for at least 5 years to see if the drug helps them grow more like other children. The study also monitored safety and compared growth data to unt…

This study looked at the long-term safety and effectiveness of Hunterase (idursulfase beta) in 30 people with Hunter syndrome over about one year. Participants had either completed a previous phase 3 study or had used Hunterase for at least six months. The goal was to monitor sid…

This completed study looked at whether the sedative dexmedetomidine can protect blood vessel lining during rhinoplasty. 90 patients received either standard anesthesia or dexmedetomidine plus anesthesia. Researchers measured two blood markers of vessel damage to see if dexmedetom…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study followed 7 adults with a milder form of Morquio A disease for 5 years to learn how the condition changes over time. Researchers measured walking ability and other health factors to better understand the disease and improve future treatment evaluations. The goal was to …