Symptoms and Outcome Measures for Upper- Limb Function in Myotonic Dystrophy Type 1 (SOUL-DM1)

Myotonic Dystrophy type 1 (DM1) is a multisystem disease that causes muscle weakness and myotonia. As a result upper limb function might become impaired. In this study we will examine patients with DM1 and record their upper limb function. We will will use a battery of patient reported outcomes (PROs) and Outcome measures (OMs) in order to evalute which ones are suitable for use in clinical practise and research studies.

Study Overview

• Status: Recruiting
• Conditions: Myotonic Dystrophy 1

• Study Type: Observational
• Enrollment (Anticipated): 80

Contacts and Locations

• Study Contact: Name: Hanne L Fossmo, MSC; Phone Number: +47 93630606; Email: halufo@ous-hf.no

Study Locations

• Norway
  • Bergen, Norway
    • Not yet recruiting
    • Haukeland University Hospital
    • Contact: Petter S Sanaker, PHD; Email: petter.schandl.sanaker@helse-bergen.no
  • Oslo, Norway
    • Recruiting
    • Oslo University Hispital
    • Contact: Hanne L Fossmo, MSC; Phone Number: +4793630606; Email: halufo@ous-hf.no
    • Contact: Kristin Ørstavik, PHD; Email: krorstav@ous-hf.no
  • Siggerud, Norway
    • Not yet recruiting
    • Frambu Centre for Rare Disorders
    • Contact: Mari Ellefsen-Martinsen, MSC; Email: mae@frambu.no

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Adults with Myotonic Dystrophy type 1 in Norway

Description

Inclusion Criteria:

• Genetically confirmed Myotonic Dystrophy type 1

Exclusion Criteria:

• Unable to answer or understand questionnaires due to language barriers or cognitive status
• Unable to perform functional tests

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Motor Function Measures (MFM)	Functional test	30-45 minutes
Nine Hole Peg Test	Fine motor function test	1-3 minutes
Myogrip/Dynamometer	Measures hand strenght	1-3 minutes
Myopinch	Measures finger strenght	1-3 minutes
ABILHAND Questionnaire	A measure of manual ability for adults with upper limb impairments. The scale measures a person's ability to manage daily activities that require the use of the upper limbs, whatever the strategies involved. Consists of 22 questions (18 to be answered by adults). The categories are easy, difficult or unable to perform. The querionnaire gives a sum score where higher score equals better function.Score from 0 to 36	5 min
ACTIVLIM Questionnaire	A measure of activity limitations for patients with upper and/or lower limb impairments. The scale measures a patient's ability to perform daily activities requiring the use of the upper and/or the lower limbs, whatever the strategies involved. Consists of 22 questions (18 to be answered by adults). The categories are easy, difficult or unable to perform. The questionnaire gives a sum score where higher score equals better function. Score fror 0 to 36	5 min

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Trunk Impairment Scale - modified Norwegian version	Motor impairment of trunk measured by functional testing. Six subdomains measuring stability and mobility of trunkal movement. Min score 0 - Max score 16. Higher score indicates better function.	8-15 minutes
Four Square Step Test	Dynamic balance test	1-3 minutes
PROMIS29	Questionnaire. Patient reported outcome measure. Generic health related quality of life assesses each of the 7 PROMIS domains (depresseion, anxiety, physical function, pain, fatigue, sleep disturbance and ability to participate in social roles). The PROMIS 29 questionnaire contains 4 questions from each of seven PROMIS contents (physical function, depression, anxiety, fatigue, sleep disorder, participation in social activities and pain interaction) and 1 question from the intensity of pain. Each item has 5 answer options (from 1 to 5), only pain intensity has 11 answer options (from 0 to 10). From the sum of the answers to each question in the domain, the total raw score for each domain is calculated, resulting in seven domain scores, each between 4 and 20.	5-10 minutes
Starkstein Apathy Scale	Questionnaire to be filled in under guidance of interviewer. Patient reported outcome measure of apathy. 14 questions, each of which is scored on a 4-point scale of 0-3, and apathy is rated as severer as the total score (0-42) increases	5 minutes
Montreal Cognitive Assessment (MoCA)	Cognitive assessment screening questionnaire. To be filled out in an interview setting. Score from 0 to 30, where a higher score indicates a better cognitive function. A score of 26 or more is considered normal.	10 minutes
Lung function test	Spirometry with FVC (Forced Vital Capasity)	10 minutes
Lung function test	PEF (Peak Expiratory Flow).	10 minutes

Collaborators and Investigators

• Sponsor: Oslo University Hospital
• Collaborators: University of Oslo; Haukeland University Hospital
• Investigators: Principal Investigator: Kristin L Ørstavik, PHD, Oslo University Hospital; Study Director: Hilde S Robinson, PHD, University of Oslo

Study record dates

Study Major Dates

• Study Start (Anticipated): October 1, 2021
• Primary Completion (Anticipated): October 1, 2023
• Study Completion (Anticipated): December 1, 2026

Study Registration Dates

• First Submitted: August 10, 2021
• First Submitted That Met QC Criteria: August 13, 2021
• First Posted (Actual): August 16, 2021

Study Record Updates

• Last Update Posted (Actual): August 16, 2021
• Last Update Submitted That Met QC Criteria: August 13, 2021
• Last Verified: August 1, 2021

More Information

Terms related to this study

• Keywords: Patient reported outcome; Upper limb function; Symptoms; Outcome measure; arm- and hand function
• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Muscular Disorders, Atrophic; Heredodegenerative Disorders, Nervous System; Muscular Dystrophies; Myotonic Disorders; Myotonic Dystrophy
• Other Study ID Numbers: 255164

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No