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

Stanford University

Status: Active, not recruiting

Conditions: Myotonic Dystrophy 1

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT06089018

62522

Details and patient eligibility

About

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.

Enrollment: 125 estimated patients

Sex: All

Ages: 12 to 90 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

125 participants in 2 patient groups

Patients with Myotonic Dystrophy Type 1

Description:

This group will consist of participants with a confirmed genetic diagnosis of DM1 or DM2.

Healthy Controls

Description:

This group will consist of participants without a confirmed genetic diagnosis of DM1 or DM2.