Study Results
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Basic Information
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COMPLETED
60 participants
OBSERVATIONAL
2018-07-01
2020-02-01
Brief Summary
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Detailed Description
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The aims of this monocentric, observational, case-control study are:
1. select and validate patient reported outcomes (PRO) and outcome measures (OM) in a large group of DM2 patient
2. Propose a DM2-specific scale of disease severity
3. collecting additional information regarding the phenotype and the progression of the disease;
4. identify differences between subgroups (e.g. age, sex, years of disease).
Participants will be recruited from the German-Swiss Registry for Myotonic Dystrophy and the internal database of the Friedrich-Baur-Institute (FBI), Department of Neurology, Ludwig-Maximilian-University, Munich, Germany. A total of at least 60 male and female patients with no age limit and with genetically proven DM2 will be included. Forty age and gender-matched controls will be also assessed.
During the first evaluation of the DM2 and the controls group, the following PROs and OMs will be evaluated:
General survey (Comorbidity, BMI, familiarity, onset, etc…), DM1-ActivC, R-Pact, FDSS, McGill pain questionnaire - short form, Brief pain inventory - short form, Beck depression inventory, Myotonia behaviour scale, Myotonia subscale from INQoL, Hand opening time, pressure pain threshold, manual and quantitative muscle testing, SARA scale, Berg balance scale, QMFT, GSGC, 30 second sit and stand test, FI-2 (only for upper extremities), 6-MWT.
After six months a second evaluation of the DM2 group will be performed, in which all PROs and OMs except the general survey will be repeated.
Data analysis will provide descriptive statistic and a complete validity and reliability informations. On the basis of these results, a disease specific severity scale will be proposed for the clinical use.
Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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DM2 group
Patients with Myotonic Dystrophy type 2 genetically confirmed, without limitation regarding age or disease onset.
DM1-ActivC
A Rasch-built activity and participation scale for clinical use in myotonic dystrophy type 1 (DM1)
R-PAct
A Rasch-built Pompe-specific activity scale.
Beck depression inventory
A self-reported depression inventory administered verbally or self administered.
McGill pain questionnaire
The short form of the MPQ, used to evaluate the qualitative aspect of pain and categorized in three dimensions of pain experience: sensory qualities, affective qualities and overall intensity.
Brief Pain Inventory Short-Form
A 9 item self-administered questionnaire used to evaluate the severity of a patient's pain and the impact of this pain on the patient's daily functioning
Fatigue and Daytime Sleepiness Scale
A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.
Myotonia Behaviour scale
It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life
Hand opening time
A simple test to evaluate clinical myotonia: the patient makes a tight fist for 5 seconds, then rapidly open them and the opening time is measured.
Pressure pain threshold
Thresholds for pressure pain were obtained over eight muscles on the left and right side of the body: extensor digitorum communis, deltoid, quadriceps and anterior tibialis. The average value of two measurements will be recorded.
Manual muscle testing
The patient is instructed to hold the corresponding limb or appropriate body part to be tested at the end of its available range while the practitioner provides opposing manual resistance. The strength is measured by the modified-MRC scale. The average value of two mesurements is considered. The following muscles were assessed: neck flexors and extensors, hip flexors and extensors, knee flexors and extensors, shoulder abductors, elbow flexors and extensors, ankle dorsiflexors and plantar flexors, wrist flexors and Extensors, digit flexors and extensors and thumb abductors.
Quantitative muscle testing
Strength testing using sophisticated strength measuring devices during an isometric contraction. The average value of two measurements is considered; in case of difference \> 10% between measurements, a third attempt is performed. The following muscles are assessed: neck flexors and extensors, hip flexors and extensors, knee flexors and extensors, shoulder abductors, elbow flexors and extensors, ankle dorsiflexors and plantar flexors, wrist flexors and extensors and digit flexors.
Scale for Assessment and Rating of Ataxia
SARA is a clinical scale which assesses a range of different impairments in cerebellar ataxia.
Berg balance scale
It is a 14 item objective measure designed to assess static balance and fall risk in adult populations
Quick motor function test
Assessment of proximal motor function.
GSGC
GSGC score provides a detailed picture of motor function by including quantitative measures of four main motor performances (Gait, Walking, Stair, Gower's) and a qualitative global assessment of the manner to accomplish them.
30 seconds sit to stand test
It is a measurement that assesses functional lower extremity strenght in older adults.
Functional Index-2
Disease-specific functional outcome assessing muscle endurance. In this trial, only the part of the test for the upper extremities is used.
Six minute walking test
It is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered over a time of 6 minutes is used as the outcome by which to compare changes in performance capacity.
Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)
A subscale derived from the Individualised Neuromuscular Quality of Life Questionnaire (INQoL). 3 questions reguarding stiffness/myotonia.
Healthy controls group
A group of gender and age-matched healthy controls.
DM1-ActivC
A Rasch-built activity and participation scale for clinical use in myotonic dystrophy type 1 (DM1)
R-PAct
A Rasch-built Pompe-specific activity scale.
Beck depression inventory
A self-reported depression inventory administered verbally or self administered.
McGill pain questionnaire
The short form of the MPQ, used to evaluate the qualitative aspect of pain and categorized in three dimensions of pain experience: sensory qualities, affective qualities and overall intensity.
Brief Pain Inventory Short-Form
A 9 item self-administered questionnaire used to evaluate the severity of a patient's pain and the impact of this pain on the patient's daily functioning
Fatigue and Daytime Sleepiness Scale
A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.
Myotonia Behaviour scale
It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life
Hand opening time
A simple test to evaluate clinical myotonia: the patient makes a tight fist for 5 seconds, then rapidly open them and the opening time is measured.
Pressure pain threshold
Thresholds for pressure pain were obtained over eight muscles on the left and right side of the body: extensor digitorum communis, deltoid, quadriceps and anterior tibialis. The average value of two measurements will be recorded.
Manual muscle testing
The patient is instructed to hold the corresponding limb or appropriate body part to be tested at the end of its available range while the practitioner provides opposing manual resistance. The strength is measured by the modified-MRC scale. The average value of two mesurements is considered. The following muscles were assessed: neck flexors and extensors, hip flexors and extensors, knee flexors and extensors, shoulder abductors, elbow flexors and extensors, ankle dorsiflexors and plantar flexors, wrist flexors and Extensors, digit flexors and extensors and thumb abductors.
Quantitative muscle testing
Strength testing using sophisticated strength measuring devices during an isometric contraction. The average value of two measurements is considered; in case of difference \> 10% between measurements, a third attempt is performed. The following muscles are assessed: neck flexors and extensors, hip flexors and extensors, knee flexors and extensors, shoulder abductors, elbow flexors and extensors, ankle dorsiflexors and plantar flexors, wrist flexors and extensors and digit flexors.
Scale for Assessment and Rating of Ataxia
SARA is a clinical scale which assesses a range of different impairments in cerebellar ataxia.
Berg balance scale
It is a 14 item objective measure designed to assess static balance and fall risk in adult populations
Quick motor function test
Assessment of proximal motor function.
GSGC
GSGC score provides a detailed picture of motor function by including quantitative measures of four main motor performances (Gait, Walking, Stair, Gower's) and a qualitative global assessment of the manner to accomplish them.
30 seconds sit to stand test
It is a measurement that assesses functional lower extremity strenght in older adults.
Functional Index-2
Disease-specific functional outcome assessing muscle endurance. In this trial, only the part of the test for the upper extremities is used.
Six minute walking test
It is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered over a time of 6 minutes is used as the outcome by which to compare changes in performance capacity.
Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)
A subscale derived from the Individualised Neuromuscular Quality of Life Questionnaire (INQoL). 3 questions reguarding stiffness/myotonia.
Interventions
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DM1-ActivC
A Rasch-built activity and participation scale for clinical use in myotonic dystrophy type 1 (DM1)
R-PAct
A Rasch-built Pompe-specific activity scale.
Beck depression inventory
A self-reported depression inventory administered verbally or self administered.
McGill pain questionnaire
The short form of the MPQ, used to evaluate the qualitative aspect of pain and categorized in three dimensions of pain experience: sensory qualities, affective qualities and overall intensity.
Brief Pain Inventory Short-Form
A 9 item self-administered questionnaire used to evaluate the severity of a patient's pain and the impact of this pain on the patient's daily functioning
Fatigue and Daytime Sleepiness Scale
A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.
Myotonia Behaviour scale
It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life
Hand opening time
A simple test to evaluate clinical myotonia: the patient makes a tight fist for 5 seconds, then rapidly open them and the opening time is measured.
Pressure pain threshold
Thresholds for pressure pain were obtained over eight muscles on the left and right side of the body: extensor digitorum communis, deltoid, quadriceps and anterior tibialis. The average value of two measurements will be recorded.
Manual muscle testing
The patient is instructed to hold the corresponding limb or appropriate body part to be tested at the end of its available range while the practitioner provides opposing manual resistance. The strength is measured by the modified-MRC scale. The average value of two mesurements is considered. The following muscles were assessed: neck flexors and extensors, hip flexors and extensors, knee flexors and extensors, shoulder abductors, elbow flexors and extensors, ankle dorsiflexors and plantar flexors, wrist flexors and Extensors, digit flexors and extensors and thumb abductors.
Quantitative muscle testing
Strength testing using sophisticated strength measuring devices during an isometric contraction. The average value of two measurements is considered; in case of difference \> 10% between measurements, a third attempt is performed. The following muscles are assessed: neck flexors and extensors, hip flexors and extensors, knee flexors and extensors, shoulder abductors, elbow flexors and extensors, ankle dorsiflexors and plantar flexors, wrist flexors and extensors and digit flexors.
Scale for Assessment and Rating of Ataxia
SARA is a clinical scale which assesses a range of different impairments in cerebellar ataxia.
Berg balance scale
It is a 14 item objective measure designed to assess static balance and fall risk in adult populations
Quick motor function test
Assessment of proximal motor function.
GSGC
GSGC score provides a detailed picture of motor function by including quantitative measures of four main motor performances (Gait, Walking, Stair, Gower's) and a qualitative global assessment of the manner to accomplish them.
30 seconds sit to stand test
It is a measurement that assesses functional lower extremity strenght in older adults.
Functional Index-2
Disease-specific functional outcome assessing muscle endurance. In this trial, only the part of the test for the upper extremities is used.
Six minute walking test
It is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered over a time of 6 minutes is used as the outcome by which to compare changes in performance capacity.
Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)
A subscale derived from the Individualised Neuromuscular Quality of Life Questionnaire (INQoL). 3 questions reguarding stiffness/myotonia.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* Able to provide informed consent
Exclusion Criteria
* Subject participating in another clinical trial (other than registries) concurrently or within 30 days prior to screening for entry into this study.
* Unable to complete study questionnaires.
18 Years
90 Years
ALL
Yes
Sponsors
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Prof. Dr. Benedikt Schoser
OTHER
Responsible Party
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Prof. Dr. Benedikt Schoser
Neurologist, senior physician
Principal Investigators
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Benedikt Schoser, MD
Role: STUDY_CHAIR
Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
Locations
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Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
Munich, Bavaria, Germany
Countries
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References
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Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmuller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurol. 2018 Aug;17(8):671-680. doi: 10.1016/S1474-4422(18)30203-5. Epub 2018 Jun 19.
Wenninger S, Montagnese F, Schoser B. Core Clinical Phenotypes in Myotonic Dystrophies. Front Neurol. 2018 May 2;9:303. doi: 10.3389/fneur.2018.00303. eCollection 2018.
Wood L, Bassez G, van Engelen B, Lochmuller H, Schoser B; 222nd ENMC workshop participants. 222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016. Neuromuscul Disord. 2018 May;28(5):463-469. doi: 10.1016/j.nmd.2018.02.003. Epub 2018 Feb 12. No abstract available.
Montagnese F, Mondello S, Wenninger S, Kress W, Schoser B. Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. J Neurol. 2017 Dec;264(12):2472-2480. doi: 10.1007/s00415-017-8653-2. Epub 2017 Oct 30.
Montagnese F, Rastelli E, Khizanishvili N, Massa R, Stahl K, Schoser B. Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2. Front Neurol. 2020 Apr 21;11:306. doi: 10.3389/fneur.2020.00306. eCollection 2020.
Other Identifiers
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KlinikumUM
Identifier Type: -
Identifier Source: org_study_id
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