Impaired renal function in patients with spinal muscular atrophy: A longitudinal cohort study

Journal of Neuromuscular Diseases 2026 Open access

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Authors: Fay‐Lynn Asselman, Sabine C A Meijvis, Renske I. Wadman, Inge Cuppen, Robin W.M. Vernooij, Lina M Vermeer, Leonard H. van den Berg, Ewout J. N. Groen, W. Ludo van der Pol
DOI: 10.1177/22143602251377240
Cited by: 0
References: 29

Abstract

Background Spinal muscular atrophy (SMA) is caused by loss-of-function of the survival motor neuron 1 ( SMN1 ) gene and deficiency of the ubiquitously expressed SMN protein. Genetic therapies can partially rescue motor units and improve prognosis of SMA, but effects of SMN shortage in other tissues has not been studied in detail. Methods We longitudinally assessed renal function in a cohort of patients with SMA before and after the start of genetic therapies. Results We enrolled 263 patients with SMA types 1c-4. Median age was 33 years (IQR: 22–49). Fifty (19%) patients had serum cystatin C based eGFR rates

Fields of Study & Subjects

Neurogenetic and Muscular Disorders Research Lysosomal Storage Disorders Research Amyotrophic Lateral Sclerosis Research

Publication details

Journal / source
Journal of Neuromuscular Diseases
Volume
13
Issue
5
Pages
983–991
Publication date
16 January 2026
Language
EN