NEUROFIBROMATOSIS TYPE 1

This study follows children who have already taken dabrafenib and/or trametinib for certain brain tumors. Researchers will monitor side effects and track growth over time. The goal is to understand the long-term safety of these medications in young patients.

This study tests an experimental drug called HLX-1502 in people aged 12 and older who have neurofibromatosis type 1 (NF1) and plexiform neurofibromas (nerve tumors) that are growing or causing symptoms. The goal is to see if the drug can shrink these tumors by at least 20% and to…

This study tests whether a new whole-body MRI combined with artificial intelligence can reliably detect early signs of cancer in children with neurofibromatosis type 1 (NF1). Fifteen children aged 5 to 17 will have three MRI scans over a year. The goal is to see if the AI can spo…

This study is testing whether a device that measures changes in the pupil of the eye can help doctors understand pain and other unusual sensations in people with Neurofibromatosis Type 1 (NF1). About 70 people aged 1 year and older with NF1 will have a small electrode placed on a…

This study is for people with neurofibromatosis type 1 (NF1) who have visible tumors, and for caregivers of children with NF1. Researchers want to see if two questionnaires can better capture how these tumors affect appearance and quality of life. Participants will join focus gro…

This study is a disease registry that collects information from medical records of 200 people in Egypt diagnosed with neurofibromatosis type 1 (NF1), a genetic condition that causes tumors on nerves. Researchers aim to understand how common NF1 is, how it progresses, and how it i…

This study looks at how 9 rare skin diseases affect people's lives, including their emotions, social life, finances, and physical health. Researchers will ask patients and their families to fill out surveys to create a 'burden score' for each disease. The goal is to better unders…

This study looks at whether a blood test (liquid biopsy) can find a rare cancer called MPNST earlier than current methods in adults with Neurofibromatosis Type 1 (NF1). About 1,000 participants will give blood samples and complete surveys every six months for five years. The goal…

This research study aims to discover new genes that may increase the risk of childhood cancer. Researchers will collect blood samples and health information from 1,500 people in families where cancer clusters. The goal is to build a registry and sample bank to help future diagnos…