Exploring outcome measures for adults with myotonic dystrophy type 1

Myotonic Dystrophy type 1 (DM1) is a multisystem progressive disorder with high heterogeneity. Novel emerging therapies require assessment tools that can effectively assess the effects of an intervention. The Outcome Measures in 5 Myotonic Dystrophy (OMMYD) Consortium has proposed a battery of funct...

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Main Author: Jimenez Moreno, Aura Cecilia
Published: University of Newcastle upon Tyne 2017
Online Access:https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.757076
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spelling ndltd-bl.uk-oai-ethos.bl.uk-7570762019-02-05T03:22:52ZExploring outcome measures for adults with myotonic dystrophy type 1Jimenez Moreno, Aura Cecilia2017Myotonic Dystrophy type 1 (DM1) is a multisystem progressive disorder with high heterogeneity. Novel emerging therapies require assessment tools that can effectively assess the effects of an intervention. The Outcome Measures in 5 Myotonic Dystrophy (OMMYD) Consortium has proposed a battery of functional outcome measures (FOM) identified as relevant for clinical trials in DM1. However, due to the variable nature of the disease and a scarcity of resources, there is a lack of systematic research that properly explores the use of these FOM. The current study examined three of these FOM and one extra related to 10 patients’ daily life performance. These are: (1) the ten-meters walk test; (2) the ten-meters walk/run test; (3) the 30-seconds sit and stand test; and, (4) a tri-axial accelerometer. By exploring the reliability, validity and responsiveness of these outcomes, we aimed to establish reference values and standard methodologies that could serve as guidance for clinical trials in DM1. A cohort of DM1 adults 15 screened for the two largest-to-date trials in DM1 (OPTIMSITIC and PHENO-DM1) were examined in relation to a set of pre-specified assessments and disease-burden scores. The results of this thesis supply disease-specific evidence of their validity, reliability and feasibility. The FOM, have shown to be psychometrically robust measures of functionality in DM1 and to be feasible for 20 clinical trials; they can provide a picture of patients’ muscle strength and perceived mobility and participation in life. The accelerometer can objectively quantify joints accelerations when walking at different speeds and summarise a DM1 patient’s habitual physical activity. The final choice of an outcome measure for a clinical trial in DM1 should be guided by disease domain that an intervention 25 is likely to impact on; but, a disease-specific study like this one will reduce the burden of protocol design whilst providing evidence supporting the decision-making process.University of Newcastle upon Tynehttps://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.757076http://hdl.handle.net/10443/3933Electronic Thesis or Dissertation
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sources NDLTD
description Myotonic Dystrophy type 1 (DM1) is a multisystem progressive disorder with high heterogeneity. Novel emerging therapies require assessment tools that can effectively assess the effects of an intervention. The Outcome Measures in 5 Myotonic Dystrophy (OMMYD) Consortium has proposed a battery of functional outcome measures (FOM) identified as relevant for clinical trials in DM1. However, due to the variable nature of the disease and a scarcity of resources, there is a lack of systematic research that properly explores the use of these FOM. The current study examined three of these FOM and one extra related to 10 patients’ daily life performance. These are: (1) the ten-meters walk test; (2) the ten-meters walk/run test; (3) the 30-seconds sit and stand test; and, (4) a tri-axial accelerometer. By exploring the reliability, validity and responsiveness of these outcomes, we aimed to establish reference values and standard methodologies that could serve as guidance for clinical trials in DM1. A cohort of DM1 adults 15 screened for the two largest-to-date trials in DM1 (OPTIMSITIC and PHENO-DM1) were examined in relation to a set of pre-specified assessments and disease-burden scores. The results of this thesis supply disease-specific evidence of their validity, reliability and feasibility. The FOM, have shown to be psychometrically robust measures of functionality in DM1 and to be feasible for 20 clinical trials; they can provide a picture of patients’ muscle strength and perceived mobility and participation in life. The accelerometer can objectively quantify joints accelerations when walking at different speeds and summarise a DM1 patient’s habitual physical activity. The final choice of an outcome measure for a clinical trial in DM1 should be guided by disease domain that an intervention 25 is likely to impact on; but, a disease-specific study like this one will reduce the burden of protocol design whilst providing evidence supporting the decision-making process.
author Jimenez Moreno, Aura Cecilia
spellingShingle Jimenez Moreno, Aura Cecilia
Exploring outcome measures for adults with myotonic dystrophy type 1
author_facet Jimenez Moreno, Aura Cecilia
author_sort Jimenez Moreno, Aura Cecilia
title Exploring outcome measures for adults with myotonic dystrophy type 1
title_short Exploring outcome measures for adults with myotonic dystrophy type 1
title_full Exploring outcome measures for adults with myotonic dystrophy type 1
title_fullStr Exploring outcome measures for adults with myotonic dystrophy type 1
title_full_unstemmed Exploring outcome measures for adults with myotonic dystrophy type 1
title_sort exploring outcome measures for adults with myotonic dystrophy type 1
publisher University of Newcastle upon Tyne
publishDate 2017
url https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.757076
work_keys_str_mv AT jimenezmorenoauracecilia exploringoutcomemeasuresforadultswithmyotonicdystrophytype1
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