Myotonic Dystrophy Type 2COMEDY-2NCT03603171
Clinical Outcome Measures in Myotonic Dystrophy Type 2
An observational study of Myotonic Dystrophy Type 2, run by Prof. Dr. Benedikt Schoser at 1 site in Germany.
Trial summary
A monocentric, longitudinal, observational case-control study in patients with Myotonic Dystrophy type 2 (DM2). At least 60 DM2 will be evaluated through a battery of patients reported Outcomes (PROs) and clinical Outcome Measures (OMs), in order to define suitable OMs for DM2 and propose a disease specific severity… Read more about this study
- Who is it for?
- Ages 18 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Myotonic Dystrophy Type 2
- What is being tested?
- DM1-ActivC, R-PAct and Beck depression inventory
- How many people
- 60 participants
- Where
- 1 siteGermany
- Study dates
- 1 Jul 2018to 1 Feb 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients with Myotonic Dystrophy type 2, without limitations regarding age of onset, disease duration or physical impairment related to the disease.
Who may be able to join
- Genetically confirmed myotonic dystrophy type 2
- Able to provide informed consent
Who cannot join
- Invalidating diseases not related with DM2 (e.g. Stroke).
- 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.
Trial locations and contacts
1 site in 1 country.
Germany1 site
Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
Munich, Bavaria, 80336
About this study
Official title: Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures
A monocentric, longitudinal, observational case-control study in patients with Myotonic Dystrophy type 2 (DM2). At least 60 DM2 will be evaluated through a battery of patients reported Outcomes (PROs) and clinical Outcome Measures (OMs), in order to define suitable OMs for DM2 and propose a disease specific severity scale. Patients will be re-evaluated after 6 months. An age and gender-matched control cohort will be assessed.
Read the detailed description
Myotonic dystrophy type 2 (DM2) is an autosomal dominant, chronic progressive multisystemic disorder. Typical symptoms of DM2 include progressive proximal muscle weakness and wasting, often combined with axial and anterior neck muscles involvement, myotonia, muscular pain, fatigue and cataracts. The estimated prevalence is approximately 1 per 100,000 people, but in some nations as Germany the DM2 frequency is much higher than and close to 1.12.000. Compared to DM1 it has a relatively short history, as the genetic base and RNA pathogenesis have been clarified in 2003. In order to evaluate specific clinical aspects of DM2 and disease progression, the development and validation of ad-hoc tests is a unmet need in the neuromuscular field. Today, only a few outcome measures were used systematically in DM2 patients, and none of them provide so far a validation of a clinical meaningful difference for an interventional clinical trial.
The aims of this monocentric, observational, case-control study are:
- select and validate patient reported outcomes (PRO) and outcome measures (OM) in a large group of DM2 patient
- Propose a DM2-specific scale of disease severity
- collecting additional information regarding the phenotype and the progression of the disease;
- 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
- Myotonic Dystrophy Type 2
- Being tested
- DM1-ActivC, R-PAct, Beck depression inventory, McGill pain questionnaire, Brief Pain Inventory Short-Form
- Keywords
- myotonic dystrophy type 2, outcome scale, muscle strength, outcome measures, disease specific severity scale
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
DM1-ActivCDiagnostic test
A Rasch-built activity and participation scale for clinical use in myotonic dystrophy type 1 (DM1)
R-PActDiagnostic test
A Rasch-built Pompe-specific activity scale.
Beck depression inventoryDiagnostic test
Also called BDI-II
A self-reported depression inventory administered verbally or self administered.
McGill pain questionnaireDiagnostic test
Also called MPQ-sf
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-FormDiagnostic test
Also called BPI-sf
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 ScaleDiagnostic test
Also called FDSS
A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.
Myotonia Behaviour scaleDiagnostic test
Also called MBS
It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life
Hand opening timeDiagnostic test
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 thresholdDiagnostic test
Also called PPT
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 testingDiagnostic test
Also called MMT
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 testingDiagnostic test
Also called QMT
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 AtaxiaDiagnostic test
Also called SARA
SARA is a clinical scale which assesses a range of different impairments in cerebellar ataxia.
Berg balance scaleDiagnostic test
Also called BBS
It is a 14 item objective measure designed to assess static balance and fall risk in adult populations
Quick motor function testDiagnostic test
Also called QMFT
Assessment of proximal motor function.
GSGCDiagnostic test
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 testDiagnostic test
Also called 30CST
It is a measurement that assesses functional lower extremity strenght in older adults.
Functional Index-2Diagnostic test
Also called FI-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 testDiagnostic test
Also called 6MWT
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)Diagnostic test
Also called InQoL
A subscale derived from the Individualised Neuromuscular Quality of Life Questionnaire (INQoL). 3 questions reguarding stiffness/myotonia.
| Study group | Role | What they receive |
|---|---|---|
| DM2 group | Patients with Myotonic Dystrophy type 2 genetically confirmed, without limitation regarding age or disease onset. Receives: Diagnostic Test: DM1-ActivC; Diagnostic Test: R-PAct; Diagnostic Test: Beck depression inventory; Diagnostic Test: McGill pain questionnaire; Diagnostic Test: Brief Pain Inventory Short-Form; Diagnostic Test: Fatigue and Daytime Sleepiness Scale; Diagnostic Test: Myotonia Behaviour scale; Diagnostic Test: Hand opening time; Diagnostic Test: Pressure pain threshold; Diagnostic Test: Manual muscle testing; Diagnostic Test: Quantitative muscle testing; Diagnostic Test: Scale for Assessment and Rating of Ataxia; Diagnostic Test: Berg balance scale; Diagnostic Test: Quick motor function test; Diagnostic Test: GSGC; Diagnostic Test: 30 seconds sit to stand test; Diagnostic Test: Functional Index-2; Diagnostic Test: Six minute walking test; Diagnostic Test: Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire) | |
| Healthy controls group | A group of gender and age-matched healthy controls. Receives: Diagnostic Test: DM1-ActivC; Diagnostic Test: R-PAct; Diagnostic Test: Beck depression inventory; Diagnostic Test: McGill pain questionnaire; Diagnostic Test: Brief Pain Inventory Short-Form; Diagnostic Test: Fatigue and Daytime Sleepiness Scale; Diagnostic Test: Myotonia Behaviour scale; Diagnostic Test: Hand opening time; Diagnostic Test: Pressure pain threshold; Diagnostic Test: Manual muscle testing; Diagnostic Test: Quantitative muscle testing; Diagnostic Test: Scale for Assessment and Rating of Ataxia; Diagnostic Test: Berg balance scale; Diagnostic Test: Quick motor function test; Diagnostic Test: GSGC; Diagnostic Test: 30 seconds sit to stand test; Diagnostic Test: Functional Index-2; Diagnostic Test: Six minute walking test; Diagnostic Test: Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Quick motor function test (QMFT)
A test for assessing motor function.
Measured: 6 months
DM1-ActivC
A Rasch-built DM1 activity and participation scale for clinical use
Measured: 6 months
Secondary outcomes (17)
R-PAct
A Rasch-built Pompe-specific activity scale
Measured: 6 months
Beck depression inventory (BDI-II)
A self-reported depression inventory administered verbally or self administered.
Measured: 6 months
McGill pain questionnaire (MPQ-sf)
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.
Measured: 6 months
Brief Pain Inventory Short-Form (BPI-sf)
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.
Measured: 6 months
Fatigue and Daytime Sleepiness Scale (FDSS)
A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.
Measured: 6 months
Myotonia Behaviour scale (MBS)
It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life.
Measured: 6 months
Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)
A subscale derived from the INQoL questionnaire. 3 questions regarding stiffness and myotonia.
Measured: 6 months
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.
Measured: 6 months
Scale for Assessment and Rating of Ataxia (SARA)
It is a clinical scale which assesses a range of different impairments in cerebellar ataxia.
Measured: 6 months
Berg balance scale (BBS)
It is a 14 item objective measure designed to assess static balance and fall risk in adult populations.
Measured: 6 months
Pressure pain threshold (PPT)
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 oft wo measurements was recorded.
Measured: 6 months
Manual muscle testing (MMT)
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 measurements is considered.
Measured: 6 months
Quantitative muscle testing (QMT)
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.
Measured: 6 months
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.
Measured: 6 months
Functional Index-2 (only upper extremities)
Disease-specific functional outcome assessing muscle endurance. In this trial, only the part of the test for the upper extremities is used.
Measured: 6 months
30 seconds sit to stand test (30CST)
It is a measurement that assesses functional lower extremity strength in older adults.
Measured: 6 months
Six-minute-walking test (6MWT)
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.
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jul 2018
- Study start1 Jul 2018
- Primary completion31 Dec 2019
- Study completion1 Feb 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Myotonic Dystrophy Type 2Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Prof. Dr. Benedikt Schoser
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Prof. Dr. Benedikt Schoser, LMU Klinikum
- Investigators
- Benedikt Schoser, MD, Study chair, Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03603171
- Sponsor's protocol ID
- KlinikumUM
- Acronym
- COMEDY-2
- Status last verified
- Feb 2020
- First submitted
- 17 Jul 2018
- Last updated
- 20 Feb 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 29934199Wenninger 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.
PubMed 29770119Wood 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.
PubMed 29550152Montagnese 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.
PubMed 29086017Montagnese 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.
PubMed 32373059
Study at a glance
From the registry record, last updated by the sponsor on 20 Feb 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures
- ClinicalTrials.gov ID
- NCT03603171
- Acronym / sponsor ID
- COMEDY-2 / KlinikumUM
- Conditions
- Myotonic Dystrophy Type 2
- Keywords
- myotonic dystrophy type 2, outcome scale, muscle strength, outcome measures, disease specific severity scale
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- Prof. Dr. Benedikt SchoserUniversity, hospital or other
- Study start
- 1 Jul 2018 (actual)
- Primary completion
- 31 Dec 2019 (actual)
- Study completion
- 1 Feb 2020 (actual)
- First posted
- 27 Jul 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
A monocentric, longitudinal, observational case-control study in patients with Myotonic Dystrophy type 2 (DM2). At least 60 DM2 will be evaluated through a battery of patients reported Outcomes (PROs) and clinical Outcome Measures (OMs), in order to define suitable OMs for DM2 and propose a disease specific severity scale. Patients will be re-evaluated after 6 months. An age and gender-matched control cohort will be assessed.
Detailed description
Myotonic dystrophy type 2 (DM2) is an autosomal dominant, chronic progressive multisystemic disorder. Typical symptoms of DM2 include progressive proximal muscle weakness and wasting, often combined with axial and anterior neck muscles involvement, myotonia, muscular pain, fatigue and cataracts. The estimated prevalence is approximately 1 per 100,000 people, but in some nations as Germany the DM2 frequency is much higher than and close to 1.12.000. Compared to DM1 it has a relatively short history, as the genetic base and RNA pathogenesis have been clarified in 2003. In order to evaluate specific clinical aspects of DM2 and disease progression, the development and validation of ad-hoc tests is a unmet need in the neuromuscular field. Today, only a few outcome measures were used systematically in DM2 patients, and none of them provide so far a validation of a clinical meaningful difference for an interventional clinical trial.
The aims of this monocentric, observational, case-control study are:
- select and validate patient reported outcomes (PRO) and outcome measures (OM) in a large group of DM2 patient
- Propose a DM2-specific scale of disease severity
- collecting additional information regarding the phenotype and the progression of the disease;
- 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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| DM2 group | – | Diagnostic Test: DM1-ActivC, Diagnostic Test: R-PAct, Diagnostic Test: Beck depression inventory, Diagnostic Test: McGill pain questionnaire, Diagnostic Test: Brief Pain Inventory Short-Form, Diagnostic Test: Fatigue and Daytime Sleepiness Scale, Diagnostic Test: Myotonia Behaviour scale, Diagnostic Test: Hand opening time, Diagnostic Test: Pressure pain threshold, Diagnostic Test: Manual muscle testing, Diagnostic Test: Quantitative muscle testing, Diagnostic Test: Scale for Assessment and Rating of Ataxia, Diagnostic Test: Berg balance scale, Diagnostic Test: Quick motor function test, Diagnostic Test: GSGC, Diagnostic Test: 30 seconds sit to stand test, Diagnostic Test: Functional Index-2, Diagnostic Test: Six minute walking test, Diagnostic Test: Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)Patients with Myotonic Dystrophy type 2 genetically confirmed, without limitation regarding age or disease onset. |
| Healthy controls group | – | Diagnostic Test: DM1-ActivC, Diagnostic Test: R-PAct, Diagnostic Test: Beck depression inventory, Diagnostic Test: McGill pain questionnaire, Diagnostic Test: Brief Pain Inventory Short-Form, Diagnostic Test: Fatigue and Daytime Sleepiness Scale, Diagnostic Test: Myotonia Behaviour scale, Diagnostic Test: Hand opening time, Diagnostic Test: Pressure pain threshold, Diagnostic Test: Manual muscle testing, Diagnostic Test: Quantitative muscle testing, Diagnostic Test: Scale for Assessment and Rating of Ataxia, Diagnostic Test: Berg balance scale, Diagnostic Test: Quick motor function test, Diagnostic Test: GSGC, Diagnostic Test: 30 seconds sit to stand test, Diagnostic Test: Functional Index-2, Diagnostic Test: Six minute walking test, Diagnostic Test: Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)A group of gender and age-matched healthy controls. |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with Myotonic Dystrophy type 2, without limitations regarding age of onset, disease duration or physical impairment related to the disease.
Key inclusion criteria (2 listed)
- Genetically confirmed myotonic dystrophy type 2
- Able to provide informed consent
Key exclusion criteria (3 listed)
- Invalidating diseases not related with DM2 (e.g. Stroke).
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| DM1-ActivCA Rasch-built activity and participation scale for clinical use in myotonic dystrophy type 1 (DM1) | Diagnostic test | DM2 group, Healthy controls group |
| R-PActA Rasch-built Pompe-specific activity scale. | Diagnostic test | DM2 group, Healthy controls group |
| Beck depression inventoryAlso: BDI-IIA self-reported depression inventory administered verbally or self administered. | Diagnostic test | DM2 group, Healthy controls group |
| McGill pain questionnaireAlso: MPQ-sfThe 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. | Diagnostic test | DM2 group, Healthy controls group |
| Brief Pain Inventory Short-FormAlso: BPI-sfA 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 | Diagnostic test | DM2 group, Healthy controls group |
| Fatigue and Daytime Sleepiness ScaleAlso: FDSSA Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1. | Diagnostic test | DM2 group, Healthy controls group |
| Myotonia Behaviour scaleAlso: MBSIt consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life | Diagnostic test | DM2 group, Healthy controls group |
| Hand opening timeA 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. | Diagnostic test | DM2 group, Healthy controls group |
| Pressure pain thresholdAlso: PPTThresholds 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. | Diagnostic test | DM2 group, Healthy controls group |
| Manual muscle testingAlso: MMTThe 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. | Diagnostic test | DM2 group, Healthy controls group |
| Quantitative muscle testingAlso: QMTStrength 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. | Diagnostic test | DM2 group, Healthy controls group |
| Scale for Assessment and Rating of AtaxiaAlso: SARASARA is a clinical scale which assesses a range of different impairments in cerebellar ataxia. | Diagnostic test | DM2 group, Healthy controls group |
| Berg balance scaleAlso: BBSIt is a 14 item objective measure designed to assess static balance and fall risk in adult populations | Diagnostic test | DM2 group, Healthy controls group |
| Quick motor function testAlso: QMFTAssessment of proximal motor function. | Diagnostic test | DM2 group, Healthy controls group |
| GSGCGSGC 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. | Diagnostic test | DM2 group, Healthy controls group |
| 30 seconds sit to stand testAlso: 30CSTIt is a measurement that assesses functional lower extremity strenght in older adults. | Diagnostic test | DM2 group, Healthy controls group |
| Functional Index-2Also: FI-2Disease-specific functional outcome assessing muscle endurance. In this trial, only the part of the test for the upper extremities is used. | Diagnostic test | DM2 group, Healthy controls group |
| Six minute walking testAlso: 6MWTIt 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. | Diagnostic test | DM2 group, Healthy controls group |
| Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)Also: InQoLA subscale derived from the Individualised Neuromuscular Quality of Life Questionnaire (INQoL). 3 questions reguarding stiffness/myotonia. | Diagnostic test | DM2 group, Healthy controls group |
Primary outcome
Quick motor function test (QMFT)
Time frame: 6 months
A test for assessing motor function.
DM1-ActivC
Time frame: 6 months
A Rasch-built DM1 activity and participation scale for clinical use
17 secondary outcomes
R-PAct
Time frame: 6 months
Beck depression inventory (BDI-II)
Time frame: 6 months
McGill pain questionnaire (MPQ-sf)
Time frame: 6 months
Brief Pain Inventory Short-Form (BPI-sf)
Time frame: 6 months
Fatigue and Daytime Sleepiness Scale (FDSS)
Time frame: 6 months
Myotonia Behaviour scale (MBS)
Time frame: 6 months
Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)
Time frame: 6 months
Hand opening time
Time frame: 6 months
Scale for Assessment and Rating of Ataxia (SARA)
Time frame: 6 months
Berg balance scale (BBS)
Time frame: 6 months
Pressure pain threshold (PPT)
Time frame: 6 months
Manual muscle testing (MMT)
Time frame: 6 months
Quantitative muscle testing (QMT)
Time frame: 6 months
GSGC
Time frame: 6 months
Functional Index-2 (only upper extremities)
Time frame: 6 months
30 seconds sit to stand test (30CST)
Time frame: 6 months
Six-minute-walking test (6MWT)
Time frame: 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Feb 2020.
- Background: PubMed 29934199Okkersen 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.
- Background: PubMed 29770119Wenninger 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.
- Background: PubMed 29550152Wood 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.
- Background: PubMed 29086017Montagnese 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.
- Derived from this study: PubMed 32373059Montagnese 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Benedikt Schoser, MD study chair
Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy Type 2, run by Prof. Dr. Benedikt Schoser at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 20 Feb 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quick motor function test (QMFT) (time frame: 6 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03603171, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Feb 2020; AzTrials last refreshed its copy on 31 Oct 2026.