Tuberous sclerosis 1

This study tests whether the drug SENS-401 can prevent hearing loss caused by cisplatin, a common chemotherapy. Adults with cancer who are scheduled to receive cisplatin take SENS-401 before, during, and after treatment. Hearing is measured with a standard test to see if the drug…

This study looked at whether adding Epidiolex (a CBD-based medicine) to usual treatment can improve seizures, behavior, sleep, and quality of life in people aged 1 to 65 with tuberous sclerosis complex (TSC). 79 participants took the drug and were monitored for changes in symptom…

This study looked at behavior problems in 101 children aged 3 to 6 with tuberous sclerosis complex (TSC). Families completed assessments online, and those with elevated behavior issues were offered a parent-training therapy (PCIT) over the internet. The goal was to help parents m…

This study looked at 545 people with hereditary cancer syndromes and their relatives. It compared the usual method of asking patients to share testing information with family members to a new method where a registry also sends reminders. The goal was to see if the registry-aided …

This study tested whether digital care plans and text message reminders help families of children with cancer predisposition syndromes better understand their child's condition. Researchers enrolled 177 parents and measured changes in knowledge and how acceptable the digital tool…

This study looked at whether a special walking test (3D gait analysis) can help identify movement problems in people with rare genetic diseases like Tuberous Sclerosis and STXBP1. About 40 participants aged 6 and older who could walk without help took part. The goal was to see if…

This completed study looked at 1,200 people with neurocutaneous syndromes (NF1, TSC, SWS, VHL) in Western China. Researchers compared those who received genetic testing, targeted drugs, and coordinated specialist care against those who got standard care. The goal was to see if pr…

This completed study followed 183 cancer patients starting checkpoint inhibitor therapy to see how often they develop autoantibodies—proteins that can mistakenly attack the body's own tissues. Researchers collected blood samples to track changes in several types of autoantibodies…

This study tested how the experimental drug radiprodil interacts with five common medications (warfarin, midazolam, digoxin, rosuvastatin, and omeprazole) in 18 healthy adults. Participants took radiprodil alone and then with each of these drugs to measure changes in drug levels …

This study looked at whether mailing at-home genetic testing kits to relatives of people with hereditary cancer gene variants could increase the number of relatives who get tested. Researchers compared this approach to usual care in 108 participants. The goal was to see if making…