Clinical measures in transthyretin familial amyloid polyneuropathy

Teresa Coelho; Aaron Vinik; Etta J Vinik; Tara Tripp; Jeff Packman; Donna R Grogan

doi:10.1002/mus.25257

Clinical measures in transthyretin familial amyloid polyneuropathy

Muscle Nerve. 2017 Mar;55(3):323-332. doi: 10.1002/mus.25257. Epub 2016 Dec 16.

Authors

Teresa Coelho¹, Aaron Vinik², Etta J Vinik², Tara Tripp³, Jeff Packman⁴, Donna R Grogan⁴

Affiliations

¹ Hospital Santo Antonio, Centro Hospitalar do Porto, Largo Prof Abel Salazar, 4099-001, Porto, Portugal.
² Eastern Virginia Medical School, Strelitz Diabetes Center, Norfolk, Virginia, USA.
³ DM-Stat, Inc., Malden, Massachusetts, USA.
⁴ FoldRx Pharmaceuticals, Inc., a wholly owned subsidiary of Pfizer, Inc., Cambridge, Massachusetts, USA.

PMID: 27422379
DOI: 10.1002/mus.25257

Abstract

Introduction: This observational, cross-sectional, single-center study aimed to identify instruments capable of measuring disease progression in transthyretin familial amyloid polyneuropathy (TTR-FAP).

Methods: The relationship between disease stage and Neuropathy Impairment Score-Lower Limbs (NIS-LL) and Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) total score was assessed in 61 (stages 1-3) patients with TTR-FAP (V30M variant) and 16 healthy controls. Composite measures of large- and small-nerve fiber function, and modified body mass index (mBMI) were also assessed.

Results: Ordinal-based NIS-LL and Norfolk QOL-DN scores discriminated between disease stages (P < 0.0001 for NIS-LL and Norfolk QOL-DN). Longer disease duration correlated with worse NIS-LL and Norfolk QOL-DN. Karnofsky performance score declined progressively by disease stage. Composite measures of nerve fiber function differentiated stage 1 from stage 2 disease. The mBMI declined with advancing disease.

Conclusions: NIS-LL, Norfolk QOL-DN score, composite endpoints of nerve fiber function, and mBMI are valid, reliable measures of TTR-FAP severity. Muscle Nerve 55: 323-332, 2017.

Keywords: Neuropathy Impairment Score; Norfolk Quality of Life; amyloidosis; modified body mass index; nerve fiber function.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Amyloid Neuropathies, Familial / diagnosis*
Amyloid Neuropathies, Familial / psychology
Amyloid Neuropathies, Familial / therapy*
Analysis of Variance
Cross-Sectional Studies
Disease Progression
Female
Humans
Male
Middle Aged
Nerve Fibers / pathology
Nerve Fibers / physiology
Quality of Life*
Severity of Illness Index*
Statistics, Nonparametric
Young Adult

Supplementary concepts

Amyloidosis, Hereditary, Transthyretin-Related