Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy
Etta J. Vinik
Eastern Virginia Medical School, Strelitz Diabetes Center, Norfolk, VA, USA
Search for more papers by this authorCorresponding Author
Aaron I. Vinik
Eastern Virginia Medical School, Strelitz Diabetes Center, Norfolk, VA, USA
Address correspondence to: Aaron Vinik, MD, PhD, FCP, MACP, FACE, Murray Waitzer Endowed Chair of Diabetes Research, Director of Neuroendocrine Unit, Eastern Virginia Medical School, Strelitz Diabetes Center, 855 W. Brambleton Avenue, Norfolk, VA 23510, USA. Tel: +(1)757-446-5912; Fax: +(1)757-446-5868; E-mail: [email protected].Search for more papers by this authorJames F. Paulson
Department of Psychology, Old Dominion University, Norfolk, VA, USA
Search for more papers by this authorIngemar S. J. Merkies
Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands
Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
Search for more papers by this authorJeff Packman
FoldRx Pharmaceuticals, Inc., A Wholly-Owned Subsidiary of Pfizer Inc., Cambridge, MA, USA
Search for more papers by this authorDonna R. Grogan
FoldRx Pharmaceuticals, Inc., A Wholly-Owned Subsidiary of Pfizer Inc., Cambridge, MA, USA
Search for more papers by this authorTeresa Coelho
Centre for the Study of Amyloidoses, Hospital Santo António, Porto, Portugal
Search for more papers by this authorEtta J. Vinik
Eastern Virginia Medical School, Strelitz Diabetes Center, Norfolk, VA, USA
Search for more papers by this authorCorresponding Author
Aaron I. Vinik
Eastern Virginia Medical School, Strelitz Diabetes Center, Norfolk, VA, USA
Address correspondence to: Aaron Vinik, MD, PhD, FCP, MACP, FACE, Murray Waitzer Endowed Chair of Diabetes Research, Director of Neuroendocrine Unit, Eastern Virginia Medical School, Strelitz Diabetes Center, 855 W. Brambleton Avenue, Norfolk, VA 23510, USA. Tel: +(1)757-446-5912; Fax: +(1)757-446-5868; E-mail: [email protected].Search for more papers by this authorJames F. Paulson
Department of Psychology, Old Dominion University, Norfolk, VA, USA
Search for more papers by this authorIngemar S. J. Merkies
Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands
Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
Search for more papers by this authorJeff Packman
FoldRx Pharmaceuticals, Inc., A Wholly-Owned Subsidiary of Pfizer Inc., Cambridge, MA, USA
Search for more papers by this authorDonna R. Grogan
FoldRx Pharmaceuticals, Inc., A Wholly-Owned Subsidiary of Pfizer Inc., Cambridge, MA, USA
Search for more papers by this authorTeresa Coelho
Centre for the Study of Amyloidoses, Hospital Santo António, Porto, Portugal
Search for more papers by this authorAbstract
The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN) questionnaire is an instrument to assess QOL in diabetic polyneuropathy. The objective of this observational, cross-sectional study in 61 patients with V30M transthyretin familial amyloid polyneuropathy (TTR-FAP) and 16 healthy volunteers was to validate the Norfolk QOL-DN for assessment of QOL in TTR-FAP. Comparisons were conducted to identify the best items to discriminate disease stages and assess which individual Norfolk domains (symptoms, large fiber, small fiber, autonomic, and activities of daily living) would be most affected by disease stage. Analysis of individual items revealed a significant pattern of discrimination among disease stages (p < 0.001). Total QOL scores increased (indicating worsening) with duration of symptoms, with a steeper increase observed earlier in the course of disease. Significant correlations were observed between each Norfolk domain and other measures of neurological function. Limitations include cross-sectional study design, low patient numbers in this rare disease, and the ordinal-based character of the metric used; future areas to explore include item response theory approaches such as Rasch analysis. These results suggest the Norfolk QOL-DN is a reliable indicator of the impact of disease severity on QOL in patients with TTR-FAP.
Supporting Information
| Filename | Description |
|---|---|
| jns512059-sup-0001-TableS1.docWord document, 63.5 KB | Table S1. Exploratory factor analysis: rotated factor loadings for the five-factor solution. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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