Real-life Experience with Disease-modifying Drugs in Hereditary Transthyretin Amyloid Polyneuropathy: A Clinical and Electrophysiological Appraisal

Overview

Journal Eur J Neurol

Publisher Wiley

Specialty Neurology

Date 2024 Nov 28

PMID 39606815

Authors

Hadia Rebouh

Annie Verschueren

Etienne Fortanier

Aude-Marie Grapperon

Ludivine Kouton

Emmanuelle Salort-Campana

Shahram Attarian

Emilien Delmont

Affiliations

Soon will be listed here.

Abstract

Introduction: New treatments have dramatically improved the prognosis for Hereditary Transthyretin Amyloid Polyneuropathy (ATTRv-PN). However, there is a lack of routine follow-up studies outside of therapeutic trials. Our aim was to report the long-term clinical and electrophysiological evolution of a cohort of ATTRv-PN patients and to determine which biomarkers are most sensitive to change.

Methods: We retrospectively collected neuropathy impairment scale (NIS), polyneuropathy disability scale (PND), overall neuropathy limitation scale (ONLS), rash built overall disability scale (RODS), electrodiagnostic data, motor unit number index (MUNIX), troponin and N-terminal pro-brain natriuretic peptide levels. Electrophysiological worsening was defined as a 20% decrease in previous values.

Results: Thirty-five patients, with a median age of 58 (interquartile ranges 42-71) years, were followed for a median of 36 (24-48) months. All patients received a transthyretin stabiliser, gene silencer or liver transplant. Overall assessment of the cohort showed clinical, biological and electrophysiological stability. However, on an individual basis, NIS worsened in 45% of patients (14/31), ONLS in 46% (13/28), PND in 28% (9/32) and RODS in 39% (11/28) at the last follow-up. Motor amplitude sum score decreased in 33% (11/33), amplitude recorded on tibialis anterior muscle in 44% (12/27), sensory amplitude sum score in 39% (11/28) and MUNIX sum score in 27% (7/26).

Conclusions: Overall effectiveness of ATTRv-PN treatments in routine care is good. However, individual assessments show up to 40% deterioration over time. Electrophysiological measures are valuable monitoring tools but are not more sensitive to change than clinical scores. Results must be confirmed in larger cohorts.

Citing Articles

Real-life experience with disease-modifying drugs in hereditary transthyretin amyloid polyneuropathy: A clinical and electrophysiological appraisal.

Rebouh H, Verschueren A, Fortanier E, Grapperon A, Kouton L, Salort-Campana E Eur J Neurol. 2024; 32(1):e16571.

PMID: 39606815 PMC: 11625926. DOI: 10.1111/ene.16571.

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