Observational Study of Digital Biomarkers of Myotonia and Gait in Adults and Children With Myotonic Dystrophy
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Myotonic Dystrophy 1
- Sponsor
- Stanford University
- Enrollment
- 125
- Locations
- 1
- Primary Endpoint
- 10 Meter Walk/Run Test
- Status
- Active, not recruiting
- Last Updated
- 2 years ago
Overview
Brief Summary
The goal of this observational study is to assess movement in individuals with Myotonic Dystrophy Type 1 (DM1) and Type 2 (DM2) using digital biomarker tools. The long-term aim of this study is to incorporate these outcomes into clinical trials of DM1 and DM2 therapies. Participants will complete a series of assessments that allow for researchers to measure hand myotonia and walking quality, including a Video Hand Opening Test (VHOT), grip strength, 10 meter walk/run test, 6 minute walk test, Timed Up and Go (TUG), Motor Function Measures-32 (MFM-32) test, and more. These assessments may be recorded to detect and map participants motion and walking patterns. Several patient reported outcome (PROs) questionnaires will also be recorded. Participants may also be asked to monitor exercise and sleep activity at home using an Actigraph wearable device. This study is divided into 2 parts: Part A consists of a single visit. Part B consists of a 1-year longitudinal study with 3 clinical follow-up visits.
Investigators
Tina Duong
Director of Clinical Outcomes Research and Development
Stanford University
Eligibility Criteria
Inclusion Criteria
- •Ability to provide informed consent
- •Age 12-90 years old at the time of informed consent
- •Genetic confirmation of DM1 or DM2
- •Ability to comply with study assessments
- •Clinically apparent myotonia equivalent to hand opening time of at least 2 seconds, in the opinion of the Investigator
- •Ambulatory (orthoses allowed, canes and walkers not allowed) and able to walk at least 25 meters at screening
Exclusion Criteria
- •Ongoing medical condition (e.g. wasting or cachexia, severe anemia) that would, in the opinion of the Investigator, interfere with the conduct or assessments of the study
- •Significant cognitive impairment, clinical dementia, or unstable psychiatric illness, including psychosis, suicidal ideation, suicide attempt, or untreated major depression ≤ 90 days of screening, which in the opinion of the Investigator may interfere with the study procedures
- •Treatment with an investigational drug, biologic agent, or device within one month of screening, or 5 half-lives of investigational agent, whichever is longer
- •Inability to comply with study requirements
- •Other unspecified reasons that, in the opinion of the Investigator or the Sponsor, make the participant unsuitable for enrolment
Outcomes
Primary Outcomes
10 Meter Walk/Run Test
Time Frame: Baseline through month 12
From a standing start, the participant is asked to go 10 meters as quickly as possible, either by walking or running. Ankle braces and orthotics may be used.
Walk-12 Questionnaire
Time Frame: Baseline through month 12
This questionnaire is used to assess walking ability.
Video Hand Opening Time (VHOT)
Time Frame: Baseline through month 12
With the use of wearable devices, the participant will be asked to open their hand from a fully fisted position as quickly as possible. This assessment will be recorded with a camera as well.
Grip Strength
Time Frame: Baseline through month 12
Requires a participant to squeeze a device as hard as possible, while the research team measures how much force is produced.
Motor Function Measures (MFM-32)
Time Frame: Baseline through month 12
This is a motor function test to assess how well a participant can walk, move, and use their hands. The test includes tasks such as reaching and picking up objects, putting out hands, and taking a step.
Time to Ascend and Descend 4 Stairs
Time Frame: Baseline through month 12
In this task, the participant will climb up and down 4 stairs as quickly as possible. The manner of ascent/descent and the use of railings will be assessed using quality grades.
6 Minute Walk Test
Time Frame: Baseline through month 12
Participant is asked to walk as far as possible within 6 minutes. The participant will be instructed to walk at their normal pace towards a cone, then turn around, continuing to do so for 6 minutes, Ankle braces and orthoses may be used.
Timed Supine to Sit
Time Frame: Baseline through month 12
This functional assessment is used to assess axial strength. The participant will be asked to move from supine position to sitting on the edge of a table as quickly as possible. The manner of sitting as well as the time it takes to complete the task will be recorded.
The Physical Activity Disability Scale (PADS-R)
Time Frame: Baseline through month 12
This questionnaire will assess physical activity.
Timed Up and Go (TUG)
Time Frame: Baseline through month 12
The participant will be asked to rise from a chair, walk 3 meters, turn around, return to the chair and sit down. The test will be performed twice, once at a comfortable pace and once at a maximal pace. Assistive devices, orthoses and ankle braces may be used.
Step Test
Time Frame: Baseline through month 12
This is used to assess standing balance. The participant will be asked to maintain their balance on one leg while the other steps on and off a 7.5cm step as many times as possible within 15 seconds.
DM-ACTIVE Questionnaire
Time Frame: Baseline through month 12
This questionnaire is used to assess the impact of DM1 on daily life.