scholarly journals Longitudinal Assessment of Strength, Functional Capacity, Oropharyngeal Function, and Quality of Life in Oculopharyngeal Muscular Dystrophy

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012640
Author(s):  
Rosemarie H.M.J.M. Kroon ◽  
Johanna G. Kalf ◽  
Bert J.M. de Swart ◽  
Barbara M. van der Sluijs ◽  
Jeffrey C. Glennon ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Clinical Trials ◽  
Muscular Dystrophy ◽  
Muscle Strength ◽  
Clinical Outcome ◽  
Disease Progression ◽  
Outcome Measures ◽  
Deltoid Muscle ◽  
Oculopharyngeal Muscular Dystrophy

ObjectiveOculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Disease progression is known to be slow, but details on the natural history remain unknown. We aimed to examine the natural history of OPMD in a large nationwide cohort to determine clinical outcome measures that capture disease progression and can be used in future clinical trials.MethodsPatients, invited by their treating physicians or from the national neuromuscular database, and invited family members, were examined twice, 20 months apart, using fixed dynamometry, MRC grading, maximum bite force and isometric tongue strength, Motor Function Measure (MFM), 10-step stair test, maximum swallowing-, chewing-, and speech-tasks and quality of life assessments.ResultsDisease progression was captured by 8 out of 18 measures over 20 months in forty-three genetically confirmed OPMD patients. The largest deterioration was seen in deltoid muscle strength (-27% (range -17 – -37%)), followed by the quadriceps (-14% (range -6 – -23%)), iliopsoas (-12.2%), tongue (-9.9%) and MRC sum-score (-2.5%). The 10-step stair test (-12.5%), MFM part D1 (-7.1%), and maximum repetition rate of /pa/ (-5.3%) showed a significant decrease as well (all p<0.05). Domain ‘Physical functioning’ of the SF-36 Health Survey significantly deteriorated (p=0.044). No relationship was found between disease progression and genotype or disease duration (p>0.05).ConclusionsDespite the slow disease progression of OPMD, this study showed that several outcome measures detected progression within 20 months. The deltoid muscle strength, measured by fixed dynamometry, showed the greatest decline. This longitudinal data provides clinical outcome measures that can be used as biomarkers in future clinical trials.

Outcome Measures in Multiple Sclerosis

2016 ◽  
Author(s):  
Robert M. Herndon
Keyword(s):  
Quality Of Life ◽  
Multiple Sclerosis ◽  
Clinical Trials ◽  
Disease Activity ◽  
Outcome Measures

This chapter discusses the challenges involved in measuring disease activity and progression in multiple sclerosis and how different aspects of the disease are measured in clinical trials. Metrics have been developed to assess multiple aspects of the disease., These include, in addition to more global instruments, measures of specific functions such as, cognition, mobility, quality of life, fatigue, and so on. These scales are discussed along with their strengths and weaknesses.

scholarly journals Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Neurology ◽  
2019 ◽  
Vol 93 (21) ◽  
pp. e1932-e1943 ◽  
Author(s):  
Minal S. Jain ◽  
Katherine Meilleur ◽  
Eunhee Kim ◽  
Gina Norato ◽  
Melissa Waite ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Clinical Outcome ◽  
Pulmonary Function ◽  
Range Of Motion ◽  
Outcome Measures ◽  
Motor Function ◽  
Rate Of Change ◽  
Elbow Flexors ◽  
Quality Of Life Measures

ObjectiveTo identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs).MethodsOver the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Assessments included the Motor Function Measure 32 (MFM32), myometry (knee flexors and extensors, elbow flexors and extensors), goniometry (knee and elbow extension), pulmonary function tests, and quality-of-life measures. Separate linear mixed-effects models were fitted for each outcome measurement, with subject-specific random intercepts.ResultsTotal MFM32 scores for COL6-RDs and LAMA2-RDs decreased at a rate of 4.01 and 2.60 points, respectively, each year (p < 0.01). All muscle groups except elbow flexors for individuals with COL6-RDs decreased in strength between 1.70% (p < 0.05) and 2.55% (p < 0.01). Range-of-motion measurements decreased by 3.21° (p < 0.05) at the left elbow each year in individuals with LAMA2-RDs and 2.35° (p < 0.01) in right knee extension each year in individuals with COL6-RDs. Pulmonary function demonstrated a yearly decline in sitting forced vital capacity percent predicted of 3.03% (p < 0.01) in individuals with COL6-RDs. There was no significant change in quality-of-life measures analyzed.ConclusionResults of this study describe the rate of change of motor function as measured by the MFM32, muscle strength, range of motion, and pulmonary function in individuals with COL6-RDs and LAMA2-RDs.

scholarly journals Measures of Response in Clinical Trials of Systemic Sclerosis: The Combined Response Index for Systemic Sclerosis (CRISS) and Outcome Measures in Pulmonary Arterial Hypertension Related to Systemic Sclerosis (EPOSS)

2009 ◽  
Vol 36 (10) ◽  
pp. 2356-2361 ◽  
Author(s):  
DINESH KHANNA ◽  
OLIVER DISTLER ◽  
JEROME AVOUAC ◽  
FRANK BEHRENS ◽  
PHILIP J. CLEMENTS ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Clinical Trials ◽  
Systemic Sclerosis ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Outcome Measures ◽  
Delphi Process ◽  
Response Index ◽  
Pulmonary Arterial

There have been steady efforts to develop a combined response index for systemic sclerosis (CRISS). A parallel and equally successful effort has been made by an Expert Panel on Outcome Measures in PAH related to Systemic Sclerosis (EPOSS) to measure effect in treatment of pulmonary arterial hypertension of systemic sclerosis (PAH-SSc). CRISS conducted a Delphi process combined with expert review to identify 11 candidate domains for inclusion in a core set of outcomes for SSc clinical trials: soluble biomarkers, cardiac, digital ulcers, gastrointestinal, global health, health related quality of life (HRQOL) and function, musculoskeletal, pulmonary, Raynaud’s, renal, and skin. Tools within domains were also agreed upon. Concentrating on one aspect of disease, PAH, EPOSS also conducted a Delphi process and judged the following domains as the most appropriate for randomized controlled trials in PAH-SSc: lung vascular/pulmonary arterial pressure, cardiac function, exercise testing; severity of dyspnea, discontinuation of treatment; quality of life/activities of daily living; global state; and survival. Possible useful tools within each domain were also agreed on. Patient derived, physician derived, and objective measures of response will be included and combined with the idea that each reflects different aspects of PAH (EPOSS) and overall disease (CRISS) although this assumption may not prove true and can be separated if statistically and clinically valid to do so. In either case, prospective studies will require measurement of all domains, and tools are required and will be developed to define appropriate combined measures of response. CRISS and EPOSS are being developed through the OMERACT process. Through Delphi process and literature review significant progress has been made for both indices, and prospective data are being collected.

G.P.15.12 Quality of life in oculopharyngeal muscular dystrophy

2007 ◽  
Vol 17 (9-10) ◽  
pp. 867
Author(s):  
J. Bachand ◽  
K. Ladonna ◽  
S. Venance ◽  
W. Koopman
Keyword(s):  
Quality Of Life ◽  
Muscular Dystrophy ◽  
Oculopharyngeal Muscular Dystrophy

scholarly journals Health-related quality of life in children with Duchenne muscular dystrophy: a follow-up study

2015 ◽  
Vol 42 (S1) ◽  
pp. S8-S8
Author(s):  
Y Wei ◽  
K Speechley ◽  
C Campbell
Keyword(s):  
Quality Of Life ◽  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Health Related Quality ◽  
Parent Reports ◽  
Related Quality ◽  
Health Related ◽  
Over Time

Background: Improvement of health-related quality of life (HRQOL) is a major goal in chronic disease management and HRQOL has become an important outcome in clinical trials. Longitudinal data on HRQOL are needed to elucidate change over time and to assess effectiveness of interventions; such research is lacking in the paediatric Duchenne Muscular Dystrophy (DMD) population. Methods: We followed up participants from our initial HRQOL study in 2013 a year and a half later. Multidimensional generic and disease-specific measures from the Pediatric Quality of Life Inventory were used to assess HRQOL from child and parent perspectives. Mean changes in HRQOL were calculated. Results: Data collection is ongoing and currently, data from 16 families (out of the initial 98) are available. Preliminary results indicated that by both child and parent reports, there were declines in all domains of HRQOL except for social function, in which there was a slight improvement. Mean decline in HRQOL scores ranged from 1.6 to 8.6 for child reports; and 3.3 to 7.7 for parent reports. Conclusion: HRQOL of boys with DMD deteriorates over time. Our results may be helpful in interpreting patient reported outcomes in forthcoming clinical trials and determining minimally clinically important changes in this population.

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