Tuberous sclerosis

This study looks at how safe and effective the drug everolimus is for Taiwanese adults with tuberous sclerosis complex (TSC) who have kidney tumors called angiomyolipomas. Four participants will take the drug and be monitored for side effects and tumor shrinkage. The goal is to c…

This study follows about 111 people with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex who are taking Epidyolex (a CBD oral solution) for seizures. Researchers track how many stay on the drug for a year and how many seizure-free days they have. It's an o…

This study looks at the long-term safety of everolimus in people with tuberous sclerosis complex (TSC) who have seizures that are hard to control. Participants are already taking everolimus and benefiting from it in an earlier study. The goal is to see if the drug remains safe an…

This early-phase trial tests an experimental drug called radiprodil in 30 people with tuberous sclerosis complex or focal cortical dysplasia type II whose seizures have not responded to at least two other medications. The study is open-label, meaning everyone gets the drug, and w…

This study tests a two-year follow-up program for 200 adults with hereditary cancer syndromes like BRCA or Lynch syndrome. Participants get personalized care plans and regular check-ins with a genetics doctor to help them follow cancer prevention and screening guidelines. The goa…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests whether a special PET scan using [11C]acetate can detect early signs that the drug rapamycin is working in people with lymphangioleiomyomatosis (LAM), a rare lung disease. Seven adults with LAM and kidney tumors will get one or two scans over 3–6 months. The goal…

This study is developing a blood test to find early-stage tumors in people with hereditary cancer syndromes (high genetic risk for cancer). Researchers will collect blood samples and medical data from about 1,400 participants across Canada. They will also interview patients and d…

This study tests whether using a virtual reality headset during PICC line placement can reduce anxiety and pain in cancer patients. About 120 adults will be randomly assigned to either receive VR plus standard care or standard care alone. The goal is to see if this non-drug appro…

This pilot study tests a short online program called 'Well-Beans for Caregivers' for adults caring for someone with tuberous sclerosis complex (TSC). The program consists of three weekly 2-hour sessions based on Acceptance and Commitment Therapy to help caregivers cope with diffi…

This study follows 154 people taking Epidiolex (cannabidiol) for seizures caused by Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex. Researchers will monitor for signs of chronic liver injury and fibrosis over time using blood tests and liver scans. The go…

This study is creating a web-based program to help people with hereditary cancer mutations share their genetic test results with family members. The goal is to increase awareness among at-risk relatives so they can take steps to prevent cancer. The program is designed for patient…

This study looks at whether short educational videos can help people with inherited cancer gene mutations learn more about their condition. About 43 adults who carry mutations in genes like BRCA1 or BRCA2 will watch the videos and then take a quiz. The goal is to see if this simp…

This study tests two simple, scalable methods to help people with inherited cancer risk follow through on recommended screenings. Researchers will provide online educational resources and personalized phone outreach to 900 participants. The goal is to see if these approaches impr…

This study is testing a chatbot and online portal called AYA-RISE to help adolescents and young adults (ages 12-24) who have genetic conditions that raise their cancer risk. The goal is to see if the tool helps them communicate with family and doctors and make informed decisions …

This study looks at the complete DNA and RNA of 10 people and their families who are at high risk for hereditary cancer but have no known genetic cause. Researchers will use whole genome sequencing and tumor analysis to discover new genetic changes that may lead to cancer. The go…

The IMPACT Study is testing two online tools—GeneSHARE and LivingLabReport—to help people with inherited cancer gene variants share their results with family members and follow cancer screening guidelines. The study involves 720 adults who have a genetic variant linked to cancers…

This study aimed to see if a rapid whole genome sequencing test on amniotic fluid could give faster genetic diagnoses for fetuses with suspected genetic diseases. Researchers planned to compare results from amniotic fluid and blood samples from up to 90 families. However, the stu…