Chromosome 17 disorder

This study tested a combination of pomalidomide and dexamethasone in 63 patients with multiple myeloma that had returned or stopped responding to treatment, and who had specific high-risk genetic changes. The goal was to see how well the drugs controlled the disease and what side…

This phase II study tested a combination of three drugs—ibrutinib, fludarabine, and pembrolizumab—in 15 people with high-risk or relapsed/refractory chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). The goal was to see if the combo could produce a complete r…

This study tested a drug called acalabrutinib in 48 adults with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) who had a specific high-risk genetic change (deletion 17p). Some participants had already tried other treatments, while others were newly diagnos…

This early-phase trial tested the safety of a gene therapy called Engensis (VM202) in 12 adults with Charcot-Marie-Tooth disease type 1A (CMT1A), a genetic nerve disorder that causes muscle weakness. Participants received multiple injections into their leg muscles and were monito…

This study involved 156 people with Charcot-Marie-Tooth disease type 1A (CMT1A), a rare nerve condition that slowly gets worse. Researchers took blood and skin samples over two years to find biological markers that could show how the disease progresses. The goal was to develop mo…

This study tested a new parent questionnaire called ORALQUEST to assess feeding and eating disorders in children aged 9 months to 6 years. Researchers included 338 children with chronic conditions like heart defects or autism, as well as those with picky eating. The goal was to s…

This study looked at how two types of nerve diseases—inherited and acquired—affect walking and balance. Researchers used motion analysis and simple tests like the Timed Up and Go test in 67 participants. The goal was to find clear differences that could help doctors tell the two …