Myotonic Dystrophy Type 1MOS-DM1/POPNCT02308657
Multicenter Observational Study of Myotonic Dystrophy Type 1
An observational study of Myotonic Dystrophy Type 1, run by University of Rochester at 6 sites in United States.
Trial summary
The purpose of the study is to determine the best ways to assess how people are affected by myotonic dystrophy type 1 (DM1). The study will assess walking speed, muscle strength, muscle size, myotonia, heart rhythm, mental efficiency, and overall health. Read more about this study
- Who is it for?
- Ages 18 to 70 years
- Conditions the study is for
- Myotonic Dystrophy Type 1
- How many people
- 120 participants
- Where
- 6 sitesUnited States
- Study dates
- Nov 2013to Oct 2017
- 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 18 to 70 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Approximately 100 adult patients (18 to 70 years old, inclusive) with DM1 will be enrolled at 6 centers.
Who may be able to join
- Ability to understand the purpose and risks of the study and provide signed informed consent and authorization to use protected health information in accordance with national and local patient privacy regulations.
- Men and women, 18 to 70 years old, inclusive; body mass index ≤33.
- Onset of DM1 after age 10.
- Clinical diagnosis of DM1 based on research criteria or prior genetic testing with confirmation of CTG repeat length ≥70. A genetic test confirming DM1 is not required for entry. A DNA sample will be obtained from all subjects for DM1 genetic testing. If this test does not show an expanded repeat in the DM1 gene the subject will be withdrawn from the study.
- Ability to complete a 6 minute walk test (ankle-foot braces are allowed, but cane and walker are not allowed).
Who cannot join
- Clinically significant infections or medical illness from 30 days prior to Visit 1.
- History of, or abnormal laboratory values indicative of, significant medical, neurologic (other than DM1), or psychiatric disorders that might preclude participation in the study in the opinion of the Investigator.
- A recent history of any of the following conditions on routine blood screening: white blood cells <3000, platelets <100,000, hematocrit <30%, symptomatic liver disease with serum albumin <3 g/L, or creatinine >1.5 mg%.
- Any of the following medical conditions: uncontrolled or insulin dependent diabetes mellitus, congestive heart failure, symptomatic cardiomyopathy, symptomatic coronary artery disease, cancer (other than skin cancer) within the prior 5 years, multiple sclerosis, or other serious medical illness.
- Myotonic dystrophy type 2 or other diseases that mimic the signs or symptoms of DM1. Coexistence of other neuromuscular disease.
- Thyroid dysfunction that is untreated (if on thyroid hormone replacement therapy, need to have adequate and stable replacement over the previous 6 months).
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- Second or third degree heart block, atrial flutter, atrial fibrillation, ventricular tachycardia, or is receiving medication for the treatment of cardiac arrhythmia.
- Liver or kidney disease requiring ongoing treatment.
- Have a seizure disorder.
- Drug or alcohol abuse within 3 months of Visit 1.
- Women who are pregnant or who plan to become pregnant during the study's duration.
- Treatment with supplemental anabolic hormones (including testosterone, human recombinant growth hormone, human recombinant insulin like growth factor-1, other anabolic drug mixtures) during the previous 12 months.
- History of bleeding tendency or ongoing oral anticoagulation.
- Hypersensitivity to local anesthetics or components thereof to be used in the biopsy procedure.
- Participation in any investigational treatment study within 6 months prior to Visit 1.
- Inability or unwillingness to undergo any of the study-specific procedures or assessments, including needle muscle biopsies.
- Medical or other unspecified reasons that in the opinion of the Investigator makes the patient unsuitable for enrollment.
- Treatment with any of the following anti-myotonia medications within 8 weeks prior to Visit 1: phenytoin, carbamazepine, procainamide, disopyramide, nifedipine, acetazolamide, clomipramine, imipramine, mexiletine
- Treatment with corticosteroids within 8 weeks prior to Visit 1.
Trial locations and contacts
6 sites in 1 country.
6 sites in 1 country
United States6 sites
NIH
Bethesda, Maryland, 20892
Ohio State University
Columbus, Ohio, 43221
University of Florida
Gainesville, Florida, 100236
University of Kansas Medical Center
Kansas City, Kansas, 66160
University of Rochester
Rochester, New York, 14642
Stanford University
Stanford, California, 94305
About this study
Official title: A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1
The purpose of the study is to determine the best ways to assess how people are affected by myotonic dystrophy type 1 (DM1). The study will assess walking speed, muscle strength, muscle size, myotonia, heart rhythm, mental efficiency, and overall health. Participants will complete questionnaires to record their ideas about how they are affected by DM1. The study will evaluate people with DM1 over 1 year to determine how the condition changes over time. The study will identify biomarkers of DM1. Biomarkers are laboratory measurements that show the effects of DM1 on a person's muscle tissue or blood. Biomarkers are needed in future studies to determine how DM1 may respond to treatments.
Read the detailed description
Participants in the study will come to the study site for 3 study visits. Each visit will take most of the day. Each visit will include a series of evaluations to determine how the person is affected by myotonic dystrophy. The results from the initial study visit will be compared to the second study visit after 3 months and the third study visit after 1 year. A small needle biopsy of a leg muscle will be performed at the first and second study visits (but not at the third visit). After the second study visit, participants will be asked to make a phone call every day for 30 days to report their symptoms and muscle strength (grip strength).
- Conditions
- Myotonic Dystrophy Type 1
- Medical subject headings
- Myotonic Dystrophy
What is being measured
The primary outcome is the main question the study is designed to answer.
Needle Muscle Biopsy RNA Biomarkers
To evaluate the stability of RNA splice events as biomarkers of DM1.
Measured: Baseline, 3 months
Secondary outcomes (3)
Myotonia
Muscle relaxation time of the hand grip and electromyography (EMG) of a leg muscle (tibialis anterior)
Measured: Baseline, 3 months, 1 year
Muscle Strength
Computer-assisted and manual testing of muscle strength
Measured: Baseline, 3 months, 1 year
Myotonic Dystrophy Health Index (MDHI)
Patient perceptions of their disease burden as measured by a questionnaire.
Measured: Baseline, 3 months, 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Dec 2014 (estimated)
- Study startNov 2013
- Primary completionJul 2017
- Study completionOct 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy Type 1Studies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 120 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Rochester
- Sponsor type
- University, hospital or other
- Collaborators
- University of Florida, University of Kansas Medical Center, Ohio State University, Stanford University, National Institute of Neurological Disorders and Stroke (NINDS), Biogen, Muscular Dystrophy Association, Myotonic Dystrophy Foundation, The Marigold Foundation
- Responsible party
- Principal investigator, Charles Thornton, University of Rochester
- Investigators
- Charles A Thornton, MD, Principal investigator, University of Rochester
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02308657
- Sponsor's protocol ID
- RSRB48991
- Other IDs
- U54NS048843
- Acronym
- MOS-DM1/POP
- Status last verified
- Feb 2017
- First submitted
- 2 Dec 2014
- Last updated
- 26 Oct 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1
- ClinicalTrials.gov ID
- NCT02308657
- Acronym / sponsor ID
- MOS-DM1/POP / RSRB48991
- Conditions
- Myotonic Dystrophy Type 1
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 120 participants (actual)
- Lead sponsor
- University of RochesterUniversity, hospital or other
- Collaborators
- University of Florida, University of Kansas Medical Center, Ohio State University, Stanford University, National Institute of Neurological Disorders and Stroke (NINDS), Biogen, Muscular Dystrophy Association, Myotonic Dystrophy Foundation, The Marigold Foundation
- Study start
- Nov 2013
- Primary completion
- Jul 2017 (actual)
- Study completion
- Oct 2017 (actual)
- First posted
- 4 Dec 2014 (estimated)
- 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 purpose of the study is to determine the best ways to assess how people are affected by myotonic dystrophy type 1 (DM1). The study will assess walking speed, muscle strength, muscle size, myotonia, heart rhythm, mental efficiency, and overall health. Participants will complete questionnaires to record their ideas about how they are affected by DM1. The study will evaluate people with DM1 over 1 year to determine how the condition changes over time. The study will identify biomarkers of DM1. Biomarkers are laboratory measurements that show the effects of DM1 on a person's muscle tissue or blood. Biomarkers are needed in future studies to determine how DM1 may respond to treatments.
Detailed description
Participants in the study will come to the study site for 3 study visits. Each visit will take most of the day. Each visit will include a series of evaluations to determine how the person is affected by myotonic dystrophy. The results from the initial study visit will be compared to the second study visit after 3 months and the third study visit after 1 year. A small needle biopsy of a leg muscle will be performed at the first and second study visits (but not at the third visit). After the second study visit, participants will be asked to make a phone call every day for 30 days to report their symptoms and muscle strength (grip strength).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Approximately 100 adult patients (18 to 70 years old, inclusive) with DM1 will be enrolled at 6 centers.
Key inclusion criteria (5 listed)
- Ability to understand the purpose and risks of the study and provide signed informed consent and authorization to use protected health information in accordance with national and local patient privacy regulations.
- Men and women, 18 to 70 years old, inclusive; body mass index ≤33.
- Onset of DM1 after age 10.
- Clinical diagnosis of DM1 based on research criteria or prior genetic testing with confirmation of CTG repeat length ≥70. A genetic test confirming DM1 is not required for entry. A DNA sample will be obtained from all subjects for DM1 genetic testing. If this test does not show an expanded repeat in the DM1 gene the subject will be withdrawn from the study.
- Ability to complete a 6 minute walk test (ankle-foot braces are allowed, but cane and walker are not allowed).
Key exclusion criteria (19 listed)
- Clinically significant infections or medical illness from 30 days prior to Visit 1.
- History of, or abnormal laboratory values indicative of, significant medical, neurologic (other than DM1), or psychiatric disorders that might preclude participation in the study in the opinion of the Investigator.
- A recent history of any of the following conditions on routine blood screening: white blood cells <3000, platelets <100,000, hematocrit <30%, symptomatic liver disease with serum albumin <3 g/L, or creatinine >1.5 mg%.
- Any of the following medical conditions: uncontrolled or insulin dependent diabetes mellitus, congestive heart failure, symptomatic cardiomyopathy, symptomatic coronary artery disease, cancer (other than skin cancer) within the prior 5 years, multiple sclerosis, or other serious medical illness.
- Myotonic dystrophy type 2 or other diseases that mimic the signs or symptoms of DM1. Coexistence of other neuromuscular disease.
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
Needle Muscle Biopsy RNA Biomarkers
Time frame: Baseline, 3 months
To evaluate the stability of RNA splice events as biomarkers of DM1.
3 secondary outcomes
Myotonia
Time frame: Baseline, 3 months, 1 year
Muscle Strength
Time frame: Baseline, 3 months, 1 year
Myotonic Dystrophy Health Index (MDHI)
Time frame: Baseline, 3 months, 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2017.
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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.
Charles A Thornton, MD principal investigator
University of Rochester
6 sites 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 Type 1, run by University of Rochester at 6 sites 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 5 inclusion and 19 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: finished, as of the sponsor's last update on 26 Oct 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Needle Muscle Biopsy RNA Biomarkers (time frame: Baseline, 3 months). 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 26 Oct 2017.