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

Myotonic Dystrophy 1 Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT06089018
• Other study ID #: 62522
• Status: Active, not recruiting
• Start date: September 10, 2022
• Est. completion date: September 10, 2024

Study information

• Verified date: October 2023
• Source: Stanford University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 125
• Est. completion date: September 10, 2024
• Est. primary completion date: September 10, 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 12 Years to 90 Years

Eligibility

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

Related Conditions & MeSH terms

• Myotonia
• Myotonic Dystrophy
• Myotonic Dystrophy 1

Locations

Country	Name	City	State
United States	Stanford Universtiy	Palo Alto	California

Sponsors (2)

Lead Sponsor	Collaborator
Stanford University	Biogen

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Video Hand Opening Time (VHOT)	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.	Baseline through month 12
Primary	Grip Strength	Requires a participant to squeeze a device as hard as possible, while the research team measures how much force is produced.	Baseline through month 12
Primary	Motor Function Measures (MFM-32)	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.	Baseline through month 12
Primary	10 Meter Walk/Run Test	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.	Baseline through month 12
Primary	6 Minute Walk Test	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.	Baseline through month 12
Primary	Timed Up and Go (TUG)	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.	Baseline through month 12
Primary	Time to Ascend and Descend 4 Stairs	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.	Baseline through month 12
Primary	Timed Supine to Sit	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.	Baseline through month 12
Primary	Step Test	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.	Baseline through month 12
Primary	Walk-12 Questionnaire	This questionnaire is used to assess walking ability.	Baseline through month 12
Primary	DM-ACTIVE Questionnaire	This questionnaire is used to assess the impact of DM1 on daily life.	Baseline through month 12
Primary	The Physical Activity Disability Scale (PADS-R)	This questionnaire will assess physical activity.	Baseline through month 12