• Defining Quality of Life in NF2

Defining Quality of Life in NF2
Posted February 13, 2012
Maura Cosetti, M.D., New York University School of Medicine

Neurofibromatosis Type 2 (NF2) is a genetic disorder characterized by the development of bilateral vestibular schwannomas, benign tumors of the nerve that transmits sensory information from the inner ear to the brain. NF2 patients are also at risk for developing other types of nervous system tumors, cataracts, and skin tumors. While these tumors are non-malignant, tumor growth may result in loss of hearing and balance, ringing in the ears, headache, abnormal sensation and vision, as well as more life-threatening symptoms based on the location of tumor. The clinical management of NF2 is complex and controversial as therapeutic interventions may also lead to significant nerve damage and dysfunction. NF2 experts agree that patient quality of life (QoL) is an important consideration in clinical decision-making; however, no NF2-specific QoL scales are available. Dr. Maura Cosetti received a fiscal year 2010 Postdoctoral Traineeship Award from the Neurofibromatosis Research Program to address this need. During this traineeship, Dr. Cosetti will develop, refine, and validate a multi-dimensional metric to evaluate QoL in NF2 patients. Beginning with a literature review of existing QoL metrics and structured interviews with NF2 clinicians and patients, Dr. Cosetti will develop a QoL questionnaire that will address the unique concerns of the NF2 population. This questionnaire will be refined and further validated in a larger cohort of NF2 patients, and results will be compared to clinical outcome measures and other QoL measurements. Dr. Cosetti's disease-specific, validated QoL metric will be used to inform NF2 patient treatment, evaluate treatment outcomes, and standardize results across clinical trials.

Link:

Public and Technical Abstracts: Comprehensive QoL in NF2: Development, Refinement, and Standardization of a Multidimensional Metric

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