An observational study in DM1, Myotonic Dystrophy and Myotonic Dystrophy 1, sponsored by Virginia Commonwealth University. Recruiting at 1 site in United States. Open to participants aged 18 Years to 70 Years. Per ClinicalTrials.gov, last updated 2026-10-16.
Sponsored by Virginia Commonwealth University · Observational
Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder that causes progressive disability and shortened life expectancy. It is characterized by progressive weakness and myotonia, which preferentially affects the craniofacial, hand, and distal leg muscles. Many patients also experience difficulties with cognition, cardiac arrhythmias, respiratory failure, or cataracts. Currently there is no treatment to slow progression or reverse the symptoms.
The goal of this observational study is to characterize long-term disease progression over at least 4 years in at least 1,000 adults with myotonic dystrophy type 1 (DM1).
The main questions this study aims to answer are:
126 studies on the registry are indexed under Myotonic Dystrophy; 50 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 100 across 56 observational studies indexed under Myotonic Dystrophy.
Browse Myotonic Dystrophy studies →Virginia Commonwealth University is the lead sponsor of 648 studies on the registry; 80 are open to participants now.
Of its 90 completed or terminated interventional studies of FDA-regulated products, 64 (71%) have results posted.
Counted across the registry records on this site, refreshed daily.
The study seeks to enroll at least 1000 men and women aged 18 to 70 with a positive genetic test for myotonic dystrophy type 1, a clinical diagnosis of myotonic dystrophy type 1, or a clinical diagnosis or positive genetic test for congenital myotonic dystrophy. based on research criteria. Few restrictions are placed on participation in the study because we aim to capture the full spectrum of disease severity.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants with a clinical or genetic diagnosis of myotonic dystrophy type 1 (DM1) or congenital myotonic dystrophy (CDM). This cohort includes individuals transitioning from the parent study, Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1; NCT03981575), as well as newly enrolled participants.
Characterize the long-term disease progression- 10 meter walk/run
The 10-meter walk test (10MWT) is used in research to reliably measure gait speed, assessing functional mobility and detecting changes in walking performance over time. It is a highly reliable, quick, and cost-effective tool. . It is favored for its simplicity, speed, and ability to predict functional independence. A "good" score varies by age/condition, with healthy adults averaging over 1.2-1.4 m/s.
Time frame: Baseline (0 months), every 12 months over four years
Characterize the long-term disease progression- vHOT
The Video Hand Opening Time (vHOT) is used in research as a practical, low-cost, and reliable quantitative tool to measure handgrip myotonia (delayed muscle relaxation) in Myotonic Dystrophy Type 1 (DM1) patients. It is particularly valuable for multicenter clinical trials because it allows for blinded, objective assessment of therapeutic responses. A "good" (healthy) score is generally as close to zero as possible.
Time frame: Baseline (0 months), every 12 months over four years
Characterize the long-term disease progression- grip strength
Grip strength is used in research as a reliable, low-cost biomarker for overall muscle strength, aging, and mortality risk. A good score varies by age and sex, with healthy young adults often averaging over 40-45 kg (males) and 25-30kg (females).
Time frame: Baseline (0 months), every 12 months over four years
Characterize the long-term disease progression- ECG
Electrocardiograms (ECGs/EKGs) are used in research for their non-invasive, cost-effective ability to track heart rhythm, diagnose cardiac conditions, and assess cardiovascular disease risk. In research, a "good" ECG score indicates normal sinus rhythm and intervals, such as a PR interval of 120-200 milliseconds and an RR interval of 0.6-1.2 seconds.
Time frame: Baseline (0 months), every 12 months over four years
Characterize the long-term disease progression- FVC
Forced Vital Capacity (FVC) is crucial in research for diagnosing and tracking restrictive lung diseases (e.g., pulmonary fibrosis), assessing disease progression, and measuring treatment efficacy in clinical trials. A "good" or normal FVC is typically 80% or higher of the predicted value, based on a patient's age, height, sex, and ethnicity.
Time frame: Baseline (0 months), every 12 months over four years
Characterize the long-term disease progression- DM1-Activ-c
The DM1-Activ-c (25-item) is a validated, Rasch-built, patient-reported outcome measure designed specifically to assess daily activity and participation in Myotonic Dystrophy Type 1 (DM1) patients. It is used in research for its high sensitivity to disease progression and therapeutic changes (responsiveness), making it a reliable primary endpoint for clinical trials to measure patient improvement. The DM1-Activ-c is scored on a scale from 0 to 100, where higher scores indicate better functional ability.
Time frame: Baseline (0 months), every 12 months over four years
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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