Clinical trial NCT06089018: Observational Study of Digital Biomarkers of Myotonia and Gait in Adults and Children With Myotonic Dystrophy
Official title: Observational Study of Digital Biomarkers of Myotonia and Gait in Adults and Children With Myotonic Dystrophy
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Myotonic Dystrophy 1
Keywords: Myotonic Dystrophy 1
DM1
Digital Biomarkers
Hand Myotonia
Gait
Observational Study
Actigraph
Syde
Lead sponsor: Stanford University
Sponsor class: OTHER
Collaborators: name: Biogen
First posted: 2023-10-18
Enrollment: 125
Sex: ALL
Minimum age (years): 12
Maximum age (years): 90
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with genetic confirmation of DM1 or DM2, or with DMPK CTG repeat length \>100, or CCTG repeat length \>100. We will recruit from our database of subjects with Myotonic Dystrophy that have been seen in the Stanford clinic in the past 5 years. Other neuromuscular specialists in the Bay Area will be informed and will be asked to refer patients to us for the study. We work closely with the Myotonic Dystrophy Foundation, Muscular Dystrophy Foundation, and Myotonic Dystrophy support groups and will spread the word about the study through these as well. We have a separate database of healthy controls that have expressed interest in our research. We will enroll healthy controls via this database, or from laboratory personnel who volunteer.

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.


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

Primary outcomes:
measure: Video Hand Opening Time (VHOT)
timeFrame: Baseline through month 12
measure: Grip Strength
timeFrame: Baseline through month 12
measure: Motor Function Measures (MFM-32)
timeFrame: Baseline through month 12
measure: 10 Meter Walk/Run Test
timeFrame: Baseline through month 12
measure: 6 Minute Walk Test
timeFrame: Baseline through month 12
measure: Timed Up and Go (TUG)
timeFrame: Baseline through month 12
measure: Time to Ascend and Descend 4 Stairs
timeFrame: Baseline through month 12
measure: Timed Supine to Sit
timeFrame: Baseline through month 12
measure: Step Test
timeFrame: Baseline through month 12
measure: Walk-12 Questionnaire
timeFrame: Baseline through month 12
measure: DM-ACTIVE Questionnaire
timeFrame: Baseline through month 12
measure: The Physical Activity Disability Scale (PADS-R)
timeFrame: Baseline through month 12
Secondary outcomes:
Other outcomes:
Locations:
city: Palo Alto
country: United States
facility: Stanford Universtiy
state: California
Study officials:
affiliation: Stanford University
name: Tina Duong, PT, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Stanford University
name: John W Day, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: