Rationale: Neurofibromatosis Type 2 (NF2) is a genetic disorder in which affected patients develop bilateral tumors of the balance nerve called vestibular schwannomas (VS). Patients with NF2 also develop other intracranial and spinal tumors, as well as cataracts and skin tumors. Although these tumors are generally benign and non-cancerous, they can lead to a variety of severe health problems, including difficulties with hearing, vision, speech, swallowing, balance, walking, and critical thinking. Without treatment, these tumors can cause brainstem compression and can ultimately lead to death. Currently, treatment options include tumor excision using microscopic surgery techniques, gamma knife radiosurgery, or radiation therapy. Observation of these tumors as they grow is also another option. Both tumor growth and treatment can lead to a variety of devastating consequences, such as deafness, blindness, and imbalance. For these reasons, ideal management of NF2 is challenging, complex, and controversial.
Research studies suggest that patient outcomes are better when care is delivered by an experienced, multidisciplinary team familiar with the complex problems faced by NF2 patients. However, even in these specialized centers, there is still considerable debate regarding the timing of treatment. Panels of experts have suggested that the goal of treatment should be to maximize a patient's functional capacity or quality of life (QoL). The term QoL is used in healthcare to evaluate the general well-being of individuals or groups of patients. Using self-assessment questionnaires, QoL measures attempt to measure an individual's overall health using scores of physical, social emotional, cognitive and role (work or domestic) functioning. These measures can be used to evaluate how a specific treatment affects a patient's overall well being. Currently, a QOL measurement tool for the use in patients with NF2 is not available.
Objective: The aim of this research project is to develop and test a QoL assessment tool for patients with NF2. This QoL assessment will measure global health and general well-being as well as address specific areas that are unique to patients with NF2.
Applicability of this research: This research aims to help both adults and children with NF2 as well as all the physicians involved in their care. Results of this study can help both patients and healthcare providers better understand the impact of the NF2 on a patient's well being. It can also contribute to understanding the general health effects of currently available treatment options. Importantly, once developed, this tool can be used in research trials of new therapies, such as the trials of oral medications for NF2. There are few, if any, risks to patients with NF2 who participate in this study. QoL measurements have been safely given to patients with a variety of diseases, including many types of cancer and patients who have VS but do not have NF2, with minimal risk. Within one year, this tool may be used by physicians and researchers to obtain data on the well-being and QoL of patients with NF2.
Contributions of this study: This study will contribute to the field of NF2 research by creating a standardized measurement tool for assessment of QoL in NF2 patients. Data gained from this study can be used to improve clinical decision making by helping physicians and patients better understand the overall health effects of various treatments and interventions. Once developed, this tool can be used by researchers to evaluate the effects of novel therapies on the functional capacity and general well-being of patients with NF2.