Dataset Information

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.

ABSTRACT:

Background

A number of clinical trials targeting GNE myopathy patients have been conducted. However, useful clinical parameters for postmarketing surveillance and long-term clinical observation have not yet been established.

Objective

We conducted a 5-year observational follow-up natural history study to identify evaluation parameters, which may be useful for the long-term observation of GNE myopathy patients.

Methods

Thirty-three genetically confirmed GNE myopathy patients were recruited and evaluated at study entry (baseline) and yearly in a 5-year follow-up. Hand-held dynamometer measurements of knee extension strength, grip power and pinch power, summed Manual Muscle Testing (MMT) score of 17 muscles, Gross Motor Function Measure (GMFM), 6 min walk test, percent vital capacity and percent forced vital capacity (%FVC), lean body mass (whole body, arms and legs), creatine kinase, Barthel Index, modified Rankin Scale and 36-item Short Form Survey national standard scores were examined.

Results

Of the 33 patients, 22 (66%) completed evaluations for the entire 5-year follow-up period. These patients had a significant reduction in summed MMT score (p=0.005), GMFM (p=0.005), pinch power (p<0.001) and %FVC (p<0.001) at the fifth year evaluation relative to baseline. Among these parameters, summed MMT score, GMFM, pinch power and %FVC showed significant changes even in non-ambulant patients.

Conclusions

MMT, GMFM, pinch power and %FVC are useful parameters for the long-term evaluation of GNE myopathy patients.

SUBMITTER: Mori-Yoshimura M

PROVIDER: S-EPMC9723845 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Publications

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.

Mori-Yoshimura Madoka M Yajima Hiroyuki H Oya Yasushi Y Mizuno Katsuhiro K Noguchi Satoru S Nishino Ichizo I Takahashi Yuji Y

BMJ neurology open 20221201 2

<h4>Background</h4>A number of clinical trials targeting GNE myopathy patients have been conducted. However, useful clinical parameters for postmarketing surveillance and long-term clinical observation have not yet been established.<h4>Objective</h4>We conducted a 5-year observational follow-up natural history study to identify evaluation parameters, which may be useful for the long-term observation of GNE myopathy patients.<h4>Methods</h4>Thirty-three genetically confirmed GNE myopathy patients ...[more]

PMID: 36483092

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Project description:BackgroundGreater trochanteric pain syndrome (GTPS) is a musculoskeletal condition which can cause disability and reduce quality of life. However, limited evidence is available on the long-term outcomes of people with GTPS. Our aims were to determine the long-term prevalence of GTPS; to calculate the proportion of people with GTPS who had developed hip osteoarthritis (OA); and to determine the level of function and quality of life, 11-years after initial GTPS diagnosis.MethodsA prospective 11-year natural history study. Two groups [GTPS group (n = 24), asymptomatic control (ASC) group (n = 20)] were evaluated at baseline, 12-months and 11-years. At 11-years all participants completed the modified Harris Hip Score (mHHS), Oswestry Disability Index (ODI) and Assessment of Quality-of-Life questionnaire. At 11-year follow-up 20/24 GTPS and 19/20 ASC participants were clinically assessed for GTPS and hip OA, completed the 10 metre-walk-test, timed up and go, and hip abduction and external rotation strength testing.ResultsAt 11-year follow-up 45.0% of GTPS participants had GTPS compared to 5.3% of ASC participants (p = 0.008), OR [95% CI]: 10.19 [1.95, 104.3], and 35.0% of GTPS participants were clinically diagnosed with hip OA compared to none of the ASC participants (p = 0.002), OR [95% CI]: 21.6, [2.3, 2898.0]. GTPS participants reported more pain and disability than ASC participants via the ODI, mean difference [95% CI]: 6.1 [0.7, 11.6] but not the modified Harris Hip Score, mean difference [95% CI]: -3.3 [-10.3, 3.7]. Both groups had similar levels of quality of life and measures of function.ConclusionsGTPS is a chronic condition: people with GTPS at baseline had twice the odds of being clinically diagnosed with GTPS or hip OA than the control group at 11-years. Further, there appears to be a temporal relationship between GTPS and the development of hip OA. This finding highlights the need to identify effective treatments that address the underlying impairments associated with GTPS. Pain and function results varied depending on the assessment tools used. Between group differences in quality of life seen at baseline are not found at the 11-year follow-up. The small sample size means the results must be considered with caution.Level of evidenceLevel II Natural history Study.

Dataset Information

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.

Background

Objective

Methods

Results

Conclusions

Publications

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.

Similar Datasets

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