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

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ClinicalTrials.gov Identifier: NCT03603171
Recruitment Status : Recruiting
First Posted : July 27, 2018
Last Update Posted : July 27, 2018
Sponsor:
Information provided by (Responsible Party):
Prof. Dr. Benedikt Schoser, Klinikum der Universitaet Muenchen

Brief 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 scale. Patients will be re-evaluated after 6 months. An age and gender-matched control cohort will be assessed.

Condition or disease Intervention/treatment
Myotonic Dystrophy Type 2 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)

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
Estimated Enrollment : 60 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures
Actual Study Start Date : July 1, 2018
Estimated Primary Completion Date : June 30, 2019
Estimated Study Completion Date : December 31, 2019


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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: BBS

Diagnostic Test: Quick motor function test
Assessment of proximal motor function.
Other Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: 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 Name: BBS

Diagnostic Test: Quick motor function test
Assessment of proximal motor function.
Other Name: 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 Name: 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 Name: 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 Name: 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 Name: InQoL




Primary Outcome Measures :
  1. Quick motor function test (QMFT) [ Time Frame: 6 months ]
    A test for assessing motor function.

  2. DM1-ActivC [ Time Frame: 6 months ]
    A Rasch-built DM1 activity and participation scale for clinical use


Secondary Outcome Measures :
  1. R-PAct [ Time Frame: 6 months ]
    A Rasch-built Pompe-specific activity scale

  2. Beck depression inventory (BDI-II) [ Time Frame: 6 months ]
    A self-reported depression inventory administered verbally or self administered.

  3. 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.

  4. 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.

  5. 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. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 30 seconds sit to stand test (30CST) [ Time Frame: 6 months ]
    It is a measurement that assesses functional lower extremity strength in older adults.

  17. 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.


Other Outcome Measures:
  1. MIRS-2 [ Time Frame: 10 months ]
    Development of a muscle impairment staging score



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years to 90 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03603171


Contacts
Contact: Benedikt Schoser, MD +4989440057400 bschoser@med.uni-muenchen.de
Contact: Federica Montagnese, MD +4989440057400 Federica.Montagnese@med.uni-muenchen.de

Locations
Germany
Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany Recruiting
Munich, Bavaria, Germany, 80336
Contact: Benedikt Schoser, MD    +4989440057400    bschoser@med.uni-muenchen.de   
Contact: Federica Montagnese, MD    +4989440057400    Federica.Montagnese@med.uni-muenchen.de   
Sponsors and Collaborators
Prof. Dr. Benedikt Schoser
Investigators
Study Chair: Benedikt Schoser, MD Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany

Publications:
Responsible Party: Prof. Dr. Benedikt Schoser, Neurologist, senior physician, Klinikum der Universitaet Muenchen
ClinicalTrials.gov Identifier: NCT03603171     History of Changes
Other Study ID Numbers: KlinikumUM
First Posted: July 27, 2018    Key Record Dates
Last Update Posted: July 27, 2018
Last Verified: July 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Prof. Dr. Benedikt Schoser, Klinikum der Universitaet Muenchen:
myotonic dystrophy type 2
outcome scale
muscle strength
outcome measures
disease specific severity scale

Additional relevant MeSH terms:
Myotonic Dystrophy
Muscular Dystrophies
Myotonic Disorders
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn