Abstract
Background: Currently there are no known cures and few effective treatments for mitochondrial disorders. It is also true there is a lack of knowledge about suitable clinician rated outcomes and how these change over time in this patient cohort. Objective:We sought to evaluate the validity and responsiveness to change of clinician rated outcome measures in patients with m.3243AG-related mitochondrial disease. Methods: We assessed the six minute timed walk (6MTW), 10 meter walk / test (10MWT), Timed up and Go (TUG) and the 5 times sit to stand (5XSTS), in 18 patients (12 sedentary controls), at baseline and a subgroup of 10 control-matched patients following a 16-week structured aerobic exercise intervention program. Results: All outcome measures assessed were valid and able to differentiate between patients and controls. Disease severity, as measured by the Newcastle Mitochondrial Disease Adult Scale, correlated with TUG (r = 0.54, p = 0.020) and 10MWT (r = 0.47, p = 0.050). Receiver Operating Curve analysis revealed 5XSTS to be the most responsive measure (AUC 0.931; 95% CI 0.84-1.00) with responsiveness to change, post intervention, emulating disease burden variance. Conclusions: The 5XSTS can be used to discriminate between mitochondrial patients and sedentary controls with high accuracy. The 10MWT and TUG may serve as suitable and clinically relevant clinician rated measures to track disease progression and assess intervention.
| Original language | English |
|---|---|
| Pages (from-to) | 151-155 |
| Number of pages | 5 |
| Journal | Journal of Neuromuscular Diseases |
| Volume | 2 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 1 Jan 2015 |
| Externally published | Yes |
Bibliographical note
This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License.Funding
We thank all patients and volunteers involved in this study. We would also like to acknowledge Flexibility and Sustainability Funding from the Newcastle upon Tyne Hospitals NHS Foundation Trust, and the UK NIHR Biomedical Research Unit and Centre for Ageing and Age-Related Disease award to the Newcastle upon Tyne Hospitals NHS Foundation Trust. The research was also supported by NIHR Newcastle CRF Infrastructure funding. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. This work was supported by the Wellcome Trust [BH092142 to MGDB, 096919Z/11/Z and 074454/Z/04/Z to DMT]; the Medical Research Council [G0601943 to DMT and G0800674 to DMT]; the UK National Institute for Health Research Biomedical Research Centre for Ageing and Age-related Diseases award to Newcastle upon Tyne Hospitals NHS Foundation Trust [for DMT, GSG and JN] and the UK NHS Highly Specialized Services and Newcastle upon Tyne Hospitals NHS Foundation Trust that support the ‘Rare Mitochondrial Disorders of Adults and Children’ Diagnostic Service [http://www. mitochondrialncg.nhs.uk].
ASJC Scopus subject areas
- Neurology
- Clinical Neurology