Histiocytosis

This study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…

This study tested an oral drug called AZ-3102 in 13 people with GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) or Niemann-Pick type C disease. The main goal was to check safety and how the drug moves through the body over 12 weeks. It was a randomized, double-blind, placebo-c…

This phase 2 trial tested the drug samotolisib in 18 children and young adults with advanced solid tumors, non-Hodgkin lymphoma, or histiocytic disorders that had spread, returned, or stopped responding to treatment. Only patients whose tumors had specific mutations in the TSC or…

This study tested a drug called tazemetostat in 20 children whose cancers had come back or weren't responding to treatment. The children had specific gene changes (EZH2, SMARCB1, or SMARCA4) in their tumors. The goal was to see if the drug could shrink or slow the growth of these…

This study followed 3 people with acid sphingomyelinase deficiency (ASMD) who had already completed earlier trials of olipudase alfa. The goal was to monitor safety and side effects while they continued receiving the enzyme replacement therapy every two weeks until the drug was o…

This study tested a drug called palbociclib in 23 children and young adults (ages 1–21) whose cancers had come back or didn't respond to treatment. The drug works by blocking proteins that help cancer cells grow. The goal was to see if it could shrink tumors or slow the disease i…

This early-phase study tested a drug called adrabetadex (VTS-270) given through a vein to treat liver disease in infants with Niemann-Pick disease type C, a rare and fatal genetic disorder. Four babies up to 6 months old received multiple doses to see if the drug could lower abno…

This study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …

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 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…