Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015

Gagnon, Cynthia; Heatwole, Chad; Hébert, Luc J.; Hogrel, Jean‐Yves; Laberge, Luc; Leone, Mario; Meola, Giovanni; Richer, Louis; Sansone, Valeria; Kierkegaard, Marie

doi:10.3233/jnd-180329

Cited by 35 publications

(31 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Similarly to our findings with respect to the 6MWT, DiPaolo et al found the scale for the assessment and rating of ataxia (SARA) to be significantly associated with the DM1‐Activ C total score (ρ = −0.75, P < .001). Moreover, in a study investigating body composition in DM1, Sedehizadeh et al estimated the mean DM1‐Activ C total score at 28 (using the first version of the scale) in a sample of 38 patients with DM1 from the UK (mean age: 42 years; 47% female). However, due to differences in instrument versions, this point estimate is not easily comparable to our data.…”

Section: Discussionmentioning

confidence: 99%

“…The test was performed in a 25‐m long corridor in Newcastle and 20‐m long corridor in London. Per currently agreed procedures, patients received feedback every minute of the current test time (ie the time left of the total 6‐minute test time).…”

Section: Methodsmentioning

confidence: 99%

“…In recent decades, the increased understanding of the underlying molecular pathology of DM1 has enabled the design of new targeted treatments, including antisense oligonucleotides, GSK3β inhibitors, and other pharmacological and genetic treatments . This acceleration in therapy development has resulted in a pressing need to map out the natural history of the disease to inform the design of clinical trial programs, including the selection of appropriate clinical endpoints and tools that are fit for purpose to measure drug benefits …”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Activities of daily living in myotonic dystrophy type 1

et al. 2020

View full text Add to dashboard Cite

Objectives The objective of this cross‐sectional, observational study was to investigate performance of activities of daily living in patients with myotonic dystrophy type 1 (DM1). Materials and Methods Adults with genetically confirmed DM1 were recruited from Newcastle University (Newcastle upon Tyne, UK) and University College London Hospitals NHS Foundation Trust (London, UK). Data on activities of daily living were recorded through the DM1‐ActivC (scale scores range between 0 and 100, where a higher/lower score indicates a higher/lower ability). Results Our sample comprised 192 patients with DM1 (mean age: 46 years; 51% female). Patients reported most difficulties with running, carrying and putting down heavy objects, and standing on one leg, and least difficulties with eating soup, washing upper body, and taking a shower. Irrespective of the disease duration (mean: 20 years), most patients were able to perform basic and instrumental activities of daily living (eg personal hygiene and grooming, showering, eating, cleaning and shopping), with the exception of functional mobility/transfer tasks (eg walking uphill and running). The mean DM1‐ActivC total score was estimated at 71 (95% CI: 68‐74). Estimated progenitor cytosine‐thymine‐guanine repeat length and age explained 27% of the variance in DM1‐ActivC total scores (P < .001). Conclusions We show that DM1 impairs performance of activities of daily living, in particular those requiring a high degree of muscle strength, stability and coordination. Yet, across the evolution of the disease, the majority of patients will still be able to independently perform most basic and instrumental activities of daily living.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Activities of daily living in myotonic dystrophy type 1

et al. 2020

View full text Add to dashboard Cite

show abstract

“…As part of the study procedures, we also recorded data from patients concerning their basic demographic and clinical characteristics, as well as results from the six-minute walk test (6MWT) and the Mini Mental State Examination (MMSE). The 6MWT was performed in a 25-m long corridor with input every minute following the agreed procedures at the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop [3]. CTG repeat length was estimated from blood DNA by the small-pool PCR assay as described by Gomes-Pereira et al [5] using the CTG repeat-flanking primers DM-C and DM-DR [6, 7].…”

Section: Methodsmentioning

confidence: 99%

“…Patients with DM1 typically experience muscle weakness and locking (i.e. myotonia), but the phenotypic spectrum is wide and symptoms are variable, which makes the identification and validation of suitable outcome measures for clinical research challenging [3]. …”

Section: Introductionmentioning

confidence: 99%

Disease burden of myotonic dystrophy type 1

et al. 2019

View full text Add to dashboard Cite

ObjectiveThe objective of this cross-sectional, observational study was to investigate the disease burden of myotonic dystrophy type 1 (DM1), a disabling muscle disorder.MethodsAdults with DM1 were recruited as part of the PhenoDM1 study from Newcastle University (Newcastle upon Tyne, UK). Disease burden data were recorded through the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Results were examined by sex and clinical variables [e.g. the six-minute walk test (6MWT), the Mini Mental State Examination, and estimated progenitor and modal allele CTG repeat length].ResultsOur sample consisted of 60 patients with DM1 (mean age: 45 years; 45% female). Muscle weakness and fatigue constituted the two most common disease manifestations, reported by 93% and 90% of patients, respectively, followed by muscle locking (73%). Most patients (> 55%) reported feeling anxious/worried, depressed, frustrated, and/or having low confidence/self-esteem, 23% and 33% indicated substantial impairment of daily and leisure activities, respectively, and 47% did not work as a consequence of the disease. Estimated progenitor CTG length corrected by age correlated surprisingly well with INQoL scores. Differences by sex were generally minor.ConclusionWe show that DM1 is associated with a substantial disease burden resulting in impairment across many different domains of patients’ lives, emphasizing the need for a holistic approach to medical management. Our results also show that the INQoL records relevant information about patients with DM1, but that further investigation of the psychometric properties of the scale is needed for meaningful interpretation of instrument scores.

show abstract

Analysis of the functional capacity outcome measures for myotonic dystrophy

Jimenez-Moreno

Nikolenko

Kierkegaard

et al. 2019

Ann Clin Transl Neurol

Self Cite

View full text Add to dashboard Cite

Objectives Defining clinically relevant outcome measures for myotonic dystrophy type 1 (DM1) that can be valid and feasible for different phenotypes has proven problematic. The Outcome Measures for Myotonic Dystrophy (OMMYD) group proposed a battery of functional outcomes: 6‐minute walk test, 30 seconds sit and stand test, timed 10 m walk test, timed 10 m walk/run test, and nine‐hole peg test. This, however, required a large‐scale investigation, Methods A cohort of 213 patients enrolled in the natural history study, PhenoDM1, was analyzed in cross‐sectional analysis and subsequently 98 patients were followed for longitudinal analysis. We aimed to assess: (1) feasibility and best practice; (2) intra‐session reliability; (3) validity; and (4) behavior over time, of these tests. Results OMMYD outcomes proved feasible as 96% of the participants completed at least one trial for all tests and more than half (n = 113) performed all three trials of each test. Body mass index and disease severity associate with functional capacity. There was a significant difference between the first and second trials of each test. There was a moderate to strong correlation between these functional outcomes and muscle strength, disease severity and patient‐reported outcomes. All outcomes after 1 year detected a change in functional capacity except the nine‐hole peg test. Conclusions These tests can be used as a battery of outcomes or independently based on the shown overlapping psychometric features and strong cross‐correlations. Due to the large and heterogeneous sample of this study, these results can serve as reference values for future studies.

show abstract

Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015

Cited by 35 publications

References 20 publications

Activities of daily living in myotonic dystrophy type 1

Activities of daily living in myotonic dystrophy type 1

Disease burden of myotonic dystrophy type 1

Analysis of the functional capacity outcome measures for myotonic dystrophy

Contact Info

Product

Resources

About