Observational Study of Digital Biomarkers of Myotonia and Gait in Adults and Children With Myotonic Dystrophy

NCT06089018•Stanford University

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

Age

12 - 90 years

Sex

ALL

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

Locations (1)

Stanford Universtiy

Palo Alto, California, United States

Key Dates

Start Date

September 10, 2022

Primary Completion Date

September 10, 2024

Completion Date

September 10, 2024

Last Updated

October 18, 2023

Enrollment

125

ESTIMATED participants

Conditions

Myotonic Dystrophy 1

Study of ATX-01 in Participants With DM1

NCT06300307

Myotonic Dystrophy 1

View study

RECRUITING

Myotonic Dystrophy Family Registry

NCT02398786

Myotonic DystrophyCongenital Myotonic Dystrophy+14 more

View study

ENROLLING_BY_INVITATIONPHASE3

Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: October 18, 2023Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

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Observational Study of Digital Biomarkers of Myotonia and Gait in Adults and Children With Myotonic Dystrophy

Inclusion Criteria

Exclusion Criteria

Study of ATX-01 in Participants With DM1

Myotonic Dystrophy Family Registry

Global Open-Label Extension Study of Del-desiran for the Treatment of DM1

Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1

Evaluation of Cognitive Functions in 20 Patients With Type 1 Myotonic Dystrophy With Virtual Reality Approach

Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1