Clinical Outcome Measures in Myotonic Dystrophy Type 2

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.

Conditions

• Myotonic Dystrophy Type 2

Interventions

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DM1-ActivC

A Rasch-built activity and participation scale for clinical use in myotonic dystrophy type 1 (DM1)

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R-PAct

A Rasch-built Pompe-specific activity scale.

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Beck depression inventory

A self-reported depression inventory administered verbally or self administered.

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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.

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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

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Fatigue and Daytime Sleepiness Scale

A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.

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Myotonia Behaviour scale

It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life

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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.

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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.

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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.

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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.

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Scale for Assessment and Rating of Ataxia

SARA is a clinical scale which assesses a range of different impairments in cerebellar ataxia.

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Berg balance scale

It is a 14 item objective measure designed to assess static balance and fall risk in adult populations

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Quick motor function test

Assessment of proximal motor function.

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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.

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30 seconds sit to stand test

It is a measurement that assesses functional lower extremity strenght in older adults.

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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.

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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.

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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.

Sponsors & Collaborators

• Prof. Dr. Benedikt Schoser

  lead OTHER

Principal Investigators

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

Eligibility

Min Age

18 Years

Max Age

90 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2018-07-01

Primary Completion

2019-12-31

Completion

2020-02-01

Countries

• Germany

Study Locations