NEUROFIBROMATOSIS 1

This study is testing a drug called abemaciclib for people with Neurofibromatosis type 1 (NF1) who have nerve tumors called atypical neurofibromas. The main goals are to find a safe dose of the drug and to see if it can shrink these tumors, which can sometimes turn into cancer. P…

This study is observing patients in Korea who are already taking Koselugo for neurofibromatosis type 1 (NF1) and its associated nerve tumors. Its main purpose is to monitor the drug's safety and see how well it works in everyday medical practice, outside of a controlled clinical …

This study is testing whether a 'liquid biopsy'—a simple blood test—can detect a dangerous type of nerve tumor (MPNST) earlier than current methods in adults with Neurofibromatosis Type 1 (NF1). Researchers will follow 1,000 adults with NF1 for five years, collecting blood sample…

This study is testing if giving the drug selumetinib early can prevent dangerous, non-cancerous nerve tumors from growing and causing serious problems like blindness or nerve damage in young children with neurofibromatosis type 1 (NF1). It will enroll up to 200 children aged 1 to…

This study is testing if a type of therapy called Acceptance and Commitment Therapy (ACT) can help parents and guardians better manage the stress of caring for a child with a rare genetic condition known as a RASopathy. The 8-week program is done completely from home using a smar…

This study aims to create and test better questionnaires for people with neurofibromatosis 1 (NF1) who have painful plexiform tumors. Researchers are working with patients and parents to improve how pain and its impact on daily life are measured. The goal is to develop reliable t…

This study is testing which of two educational approaches works better to help people with Neurofibromatosis 1 (NF1) get recommended health screenings during their regular doctor visits. The research team wants to improve care for patients who don't have access to specialized NF …

This study aims to learn how to better predict which benign nerve tumors in people with Neurofibromatosis type 1 (NF1) might become cancerous. Researchers will observe 225 participants, aged 3 and up, for 10 years, using scans and check-ups to track their tumors. Participants wil…

This study aims to better understand a group of rare genetic conditions called RASopathies, which include Noonan Syndrome and Neurofibromatosis. Researchers will collect blood, tissue, and health information from up to 1,000 participants who have or are suspected of having one of…

This study is testing two online approaches to help adults with Neurofibromatosis 1 (NF1) who have difficulty understanding medical information. Participants receive personalized care letters and either educational videos or a call with a peer who has NF1. The research aims to se…