An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment.

Abstract

BACKGROUND:

Efficacy of nusinersen in adult 5q-spinal muscular atrophy (SMA) patients regarding motor function has recently been demonstrated. However, additional outcome measures are needed to capture non-motor improvements. Fatigue is a common and disabling symptom in neurologic diseases, but little is known about its frequency, characteristics and associated factors in SMA.

OBJECTIVE:

To characterize fatigue in SMA patients receiving nusinersen, identify associated factors and evaluate fatigue as potential patient-reported outcome measure (PRO).

METHODS:

We assessed fatigue in adults with genetically confirmed 5q-SMA in a prospective longitudinal monocentric study using the Fatigue Severity Scale (FSS) and the Multidimensional Fatigue Inventory (MFI). Factors associated with fatigue including health-related quality of life (HRQOL) were evaluated.

RESULTS:

75% of participants were abnormally fatigued with highest scores in the dimensions physical, followed by general fatigue and reduced activity. 53% agreed that fatigue was among their three most disabling symptoms. Reduced activity was reported more extensively by participants with ≥ 4 copies of the survival of motor neuron 2 gene and better motor function. General and mental fatigue correlated positively with age and disease duration. HRQOL was inversely correlated with physical fatigue, which was not associated with disease or participant characteristics. During 14 months of nusinersen treatment, fatigue measures remained mostly stable with a trend towards improvement in reduced activity, general and physical fatigue.

CONCLUSION:

Fatigue is a frequent and relevant complaint in adult SMA patients. Fatigue should be taken into consideration as additional outcome measure, but needs further evaluation in a larger patient cohort over a longer observation period.

• Authors: Camilla Binz, Olivia Schreiber-Katz, Mareike Kumpe, Gresa Ranxha, Hannah Siegler, Gary Wieselmann, Susanne Petri, Alma Osmanovic
• Journal: Journal of neurology (J Neurol) Vol. 268 Issue 3 Pg. 950-962 (Mar 2021) ISSN: 1432-1459 [Electronic] Germany
• PMID: 33029682 (Publication Type: Journal Article, Observational Study)

Chemical References

• Oligonucleotides
• nusinersen

Topics

• Adult
• Cohort Studies
• Humans
• Muscular Atrophy, Spinal (drug therapy)
• Oligonucleotides
• Prospective Studies
• Quality of Life