Myotonic Dystrophy 1NCT06089018
Observational Study of Digital Biomarkers of Myotonia and Gait in Adults and Children With Myotonic Dystrophy
An observational study of Myotonic Dystrophy 1, run by Stanford University at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 12 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Myotonic Dystrophy 1
- How many people
- 125 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Sep 2022to 10 Sep 2024
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 to 90 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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 locations and contacts
1 site in 1 country.
About this study
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.
- Conditions
- Myotonic Dystrophy 1
- Keywords
- Myotonic Dystrophy 1, DM1, Digital Biomarkers, Hand Myotonia, Gait, Observational Study, Actigraph, Syde
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with Myotonic Dystrophy Type 1 | This group will consist of participants with a confirmed genetic diagnosis of DM1 or DM2. | |
| Healthy Controls | This group will consist of participants without a confirmed genetic diagnosis of DM1 or DM2. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline through month 12
Grip Strength
Requires a participant to squeeze a device as hard as possible, while the research team measures how much force is produced.
Measured: Baseline through month 12
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.
Measured: Baseline through month 12
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.
Measured: Baseline through month 12
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.
Measured: Baseline through month 12
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.
Measured: Baseline through month 12
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.
Measured: Baseline through month 12
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.
Measured: Baseline through month 12
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.
Measured: Baseline through month 12
Walk-12 Questionnaire
This questionnaire is used to assess walking ability.
Measured: Baseline through month 12
DM-ACTIVE Questionnaire
This questionnaire is used to assess the impact of DM1 on daily life.
Measured: Baseline through month 12
The Physical Activity Disability Scale (PADS-R)
This questionnaire will assess physical activity.
Measured: Baseline through month 12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Oct 2023
- Study start10 Sep 2022
- Primary completion10 Sep 2024 (estimated)
- Study completion10 Sep 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy 1Studies of the same condition, open and under way.
- More trials run by Stanford UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 125 participants (estimated)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- Stanford University
- Sponsor type
- University, hospital or other
- Collaborators
- Biogen
- Responsible party
- Principal investigator, Tina Duong, Stanford University
- Investigators
- Tina Duong, PT, PhD, Principal investigator, Stanford UniversityJohn W Day, MD, PhD, Principal investigator, Stanford University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06089018
- Sponsor's protocol ID
- 62522
- Status last verified
- Oct 2023
- First submitted
- 12 Oct 2023
- Last updated
- 18 Oct 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Biogen and their collaborators will have access to coded study data. Protected Health Information (PHI)/identifiers will not be shared with Biogen or research collaborators and they will not have the key to the code linking study identification/code to the participants. When data needs to be shared, it will be via secure network using encrypted files.
Study at a glance
From the registry record, last updated by the sponsor on 18 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Study of Digital Biomarkers of Myotonia and Gait in Adults and Children With Myotonic Dystrophy
- ClinicalTrials.gov ID
- NCT06089018
- Acronym / sponsor ID
- 62522
- Conditions
- Myotonic Dystrophy 1
- Keywords
- Myotonic Dystrophy 1, DM1, Digital Biomarkers, Hand Myotonia, Gait, Observational Study, Actigraph, Syde
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 125 participants (estimated)
- Lead sponsor
- Stanford UniversityUniversity, hospital or other
- Collaborators
- Biogen
- Study start
- 10 Sep 2022 (actual)
- Primary completion
- 10 Sep 2024 (estimated)
- Study completion
- 10 Sep 2024 (estimated)
- First posted
- 18 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 1 Year
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with Myotonic Dystrophy Type 1 | – | –This group will consist of participants with a confirmed genetic diagnosis of DM1 or DM2. |
| Healthy Controls | – | –This group will consist of participants without a confirmed genetic diagnosis of DM1 or DM2. |
Who may qualify
- Ages
- 12 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Video Hand Opening Time (VHOT)
Time frame: 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
Time frame: 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)
Time frame: 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
Time frame: 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
Time frame: 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)
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: Baseline through month 12
This questionnaire is used to assess walking ability.
DM-ACTIVE Questionnaire
Time frame: Baseline through month 12
This questionnaire is used to assess the impact of DM1 on daily life.
The Physical Activity Disability Scale (PADS-R)
Time frame: Baseline through month 12
This questionnaire will assess physical activity.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Oct 2023.
- Individual participant dataSharing planned: Yes. Biogen and their collaborators will have access to coded study data. Protected Health Information (PHI)/identifiers will not be shared with Biogen or research collaborators and they will not have the key to the code linking study identification/code to the participants. When data needs to be shared, it will be via secure network using encrypted files.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tina Duong, PT, PhD principal investigator
Stanford University
John W Day, MD, PhD principal investigator
Stanford University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy 1, run by Stanford University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 18 Oct 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Video Hand Opening Time (VHOT) (time frame: Baseline through month 12). The study lists 12 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Oct 2023.