Long-Term Observational Study to Understand Tumor Growth and Neurological Effects in Neurofibromatosis Type 2

What this Trial Is About

Researchers are conducting a natural history study of neurofibromatosis type 2 NF2 to better understand the factors that lead to tumor growth and neurological problems in people with this condition. The study includes 269 participants aged 8 to 75 who have a clinical or genetic diagnosis of NF2. The goal is to learn more about how the disease progresses and affects speech, swallowing, hearing, and nerve function. Participants undergo a detailed physical and neurological exam when they join the study. This initial visit includes MRI scans of the brain and spine with contrast, blood samples for research, hearing tests for those with measurable hearing, vestibular assessments for untreated vestibular schwannomas, and evaluation by a speech language pathologist. Genetic testing results from outside sources are accepted, and additional whole genome or exome sequencing may be done if needed. Participants are followed as outpatients for up to ten years. They have annual clinical and radiologic evaluations, yearly hearing tests if applicable, and vestibular testing for untreated vestibular schwannomas. Speech and swallowing are reassessed if problems worsen. Blood samples are collected at each visit to study biomarkers. The study aims to identify imaging and serum markers linked to hearing loss, tumor burden, and nerve problems in NF2.

Natural History Study of Patients With Neurofibromatosis Type 2