Clinical Outcome Measures in Myotonic Dystrophy Type 2 (COMEDY-2)

February 19, 2020 updated by: Prof. Dr. Benedikt Schoser

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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:

  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.

Study Type

Observational

Enrollment (Actual)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Germany
    • Bavaria
      • Munich, Bavaria, Germany, 80336
        • Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 90 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Patients with Myotonic Dystrophy type 2, without limitations regarding age of onset, disease duration or physical impairment related to the disease.

Description

Inclusion Criteria:

  • Genetically confirmed myotonic dystrophy type 2
  • Able to provide informed consent

Exclusion Criteria:

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
DM2 group
Patients with Myotonic Dystrophy type 2 genetically confirmed, without limitation regarding age or disease onset.
Diagnostic test: DM1-ActivC
A Rasch-built activity and participation scale for clinical use in myotonic dystrophy type 1 (DM1)
Diagnostic test: R-PAct
A Rasch-built Pompe-specific activity scale.
Diagnostic test: Beck depression inventory
A self-reported depression inventory administered verbally or self administered.
Other Names:
  • BDI-II
Diagnostic test: 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.
Other Names:
  • MPQ-sf
Diagnostic test: 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
Other Names:
  • BPI-sf
Diagnostic test: Fatigue and Daytime Sleepiness Scale
A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.
Other Names:
  • FDSS
Diagnostic test: Myotonia Behaviour scale
It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life
Other Names:
  • MBS
Diagnostic test: 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.
Diagnostic test: 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.
Other Names:
  • PPT
Diagnostic test: 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.
Other Names:
  • MMT
Diagnostic test: 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.
Other Names:
  • QMT
Diagnostic test: Scale for Assessment and Rating of Ataxia
SARA is a clinical scale which assesses a range of different impairments in cerebellar ataxia.
Other Names:
  • SARA
Diagnostic test: Berg balance scale
It is a 14 item objective measure designed to assess static balance and fall risk in adult populations
Other Names:
  • BBS
Diagnostic test: Quick motor function test
Assessment of proximal motor function.
Other Names:
  • QMFT
Diagnostic test: 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.
Diagnostic test: 30 seconds sit to stand test
It is a measurement that assesses functional lower extremity strenght in older adults.
Other Names:
  • 30CST
Diagnostic test: 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.
Other Names:
  • FI-2
Diagnostic test: 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.
Other Names:
  • 6MWT
Diagnostic test: 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 Names:
  • InQoL
Healthy controls group
A group of gender and age-matched healthy controls.
Diagnostic test: DM1-ActivC
A Rasch-built activity and participation scale for clinical use in myotonic dystrophy type 1 (DM1)
Diagnostic test: R-PAct
A Rasch-built Pompe-specific activity scale.
Diagnostic test: Beck depression inventory
A self-reported depression inventory administered verbally or self administered.
Other Names:
  • BDI-II
Diagnostic test: 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.
Other Names:
  • MPQ-sf
Diagnostic test: 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
Other Names:
  • BPI-sf
Diagnostic test: Fatigue and Daytime Sleepiness Scale
A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.
Other Names:
  • FDSS
Diagnostic test: Myotonia Behaviour scale
It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life
Other Names:
  • MBS
Diagnostic test: 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.
Diagnostic test: 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.
Other Names:
  • PPT
Diagnostic test: 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.
Other Names:
  • MMT
Diagnostic test: 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.
Other Names:
  • QMT
Diagnostic test: Scale for Assessment and Rating of Ataxia
SARA is a clinical scale which assesses a range of different impairments in cerebellar ataxia.
Other Names:
  • SARA
Diagnostic test: Berg balance scale
It is a 14 item objective measure designed to assess static balance and fall risk in adult populations
Other Names:
  • BBS
Diagnostic test: Quick motor function test
Assessment of proximal motor function.
Other Names:
  • QMFT
Diagnostic test: 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.
Diagnostic test: 30 seconds sit to stand test
It is a measurement that assesses functional lower extremity strenght in older adults.
Other Names:
  • 30CST
Diagnostic test: 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.
Other Names:
  • FI-2
Diagnostic test: 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.
Other Names:
  • 6MWT
Diagnostic test: 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 Names:
  • InQoL

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Quick motor function test (QMFT)
Time Frame: 6 months
A test for assessing motor function.
6 months
DM1-ActivC
Time Frame: 6 months
A Rasch-built DM1 activity and participation scale for clinical use
6 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
R-PAct
Time Frame: 6 months
A Rasch-built Pompe-specific activity scale
6 months
Beck depression inventory (BDI-II)
Time Frame: 6 months
A self-reported depression inventory administered verbally or self administered.
6 months
McGill pain questionnaire (MPQ-sf)
Time Frame: 6 months
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.
6 months
Brief Pain Inventory Short-Form (BPI-sf)
Time Frame: 6 months
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.
6 months
Fatigue and Daytime Sleepiness Scale (FDSS)
Time Frame: 6 months
A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.
6 months
Myotonia Behaviour scale (MBS)
Time Frame: 6 months
It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life.
6 months
Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)
Time Frame: 6 months
A subscale derived from the INQoL questionnaire. 3 questions regarding stiffness and myotonia.
6 months
Hand opening time
Time Frame: 6 months
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.
6 months
Scale for Assessment and Rating of Ataxia (SARA)
Time Frame: 6 months
It is a clinical scale which assesses a range of different impairments in cerebellar ataxia.
6 months
Berg balance scale (BBS)
Time Frame: 6 months
It is a 14 item objective measure designed to assess static balance and fall risk in adult populations.
6 months
Pressure pain threshold (PPT)
Time Frame: 6 months
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.
6 months
Manual muscle testing (MMT)
Time Frame: 6 months
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.
6 months
Quantitative muscle testing (QMT)
Time Frame: 6 months
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.
6 months
GSGC
Time Frame: 6 months
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.
6 months
Functional Index-2 (only upper extremities)
Time Frame: 6 months
Disease-specific functional outcome assessing muscle endurance. In this trial, only the part of the test for the upper extremities is used.
6 months
30 seconds sit to stand test (30CST)
Time Frame: 6 months
It is a measurement that assesses functional lower extremity strength in older adults.
6 months
Six-minute-walking test (6MWT)
Time Frame: 6 months
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.
6 months

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
MIRS-2
Time Frame: 10 months
Development of a muscle impairment staging score
10 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Prof. Dr. Benedikt Schoser

Investigators

  • Study Chair: Benedikt Schoser, MD, Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2018

Primary Completion (Actual)

December 31, 2019

Study Completion (Actual)

February 1, 2020

Study Registration Dates

First Submitted

July 17, 2018

First Submitted That Met QC Criteria

July 26, 2018

First Posted (Actual)

July 27, 2018

Study Record Updates

Last Update Posted (Actual)

February 20, 2020

Last Update Submitted That Met QC Criteria

February 19, 2020

Last Verified

February 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • KlinikumUM

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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