Myotonic Dystrophy 1
Conditions
Keywords
Myotonic Dystrophy 1, DM1, Digital Biomarkers, Hand Myotonia, Gait, Observational Study, Actigraph, Syde
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.
Interventions
None listed
Sponsors
Biogen
Stanford University
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
12 Years to 90 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Video Hand Opening Time (VHOT) | 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 | 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) | 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. |
| 10 Meter Walk/Run Test | 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. |
| 6 Minute Walk Test | 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 Up and Go (TUG) | 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. |
| Time to Ascend and Descend 4 Stairs | 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. |
| Timed Supine to Sit | 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. |
| Step Test | 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. |
| Walk-12 Questionnaire | Baseline through month 12 | This questionnaire is used to assess walking ability. |
| DM-ACTIVE Questionnaire | Baseline through month 12 | This questionnaire is used to assess the impact of DM1 on daily life. |
| The Physical Activity Disability Scale (PADS-R) | Baseline through month 12 | This questionnaire will assess physical activity. |
Countries
United States
Outcome results
None listed