Myotonic Dystrophy Type-1 Clinical Trial
Official title:
Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2
| Verified date | November 2021 |
| Source | National Institutes of Health Clinical Center (CC) |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Observational |
Background: Myotonic dystrophy is a long-term genetic disorder that affects muscle function. Symptoms include gradually worsening muscle loss and weakness. Muscles often contract and cannot relax. Researchers want to find out how various tests for DM1 or DM2 change over 2 years, to help them develop better tests for people with these diseases. Data and samples from this study will be shared with the Myotonic Dystrophy Clinical Research Network (DMCRN) investigators participating in the ongoing Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (ENDDM1) study Objective: To find better ways to assess how myotonic dystrophy type 1 or type 2 affects people. Eligibility: People ages 11 70 with DM1 or DM2 Design: Participants will have 3 study visits over 2 years. Participants may be admitted to the clinic. Each visit may last up to a week and will include: Medical history and physical exam Blood, heart, and pregnancy tests Questions about their disease Breathing and muscle tests, including tests of movement, grip, and hand opening Speech and swallowing exam Magnetic resonance imaging (MRI). Participants will lie on a table that slides into a cylinder. A magnetic field and radio waves will take pictures of the body. They may do a task during the scan. They may have a dye injected. Pictures of chemicals in the brain or muscle taken in an MRI scanner Thinking and memory tests Sleep studies. Electrodes placed on the scalp will record the electrical activity of the brain. Other devices on the body will measure heartbeat, breathing, movement, and oxygen. Tests of electrical activity of muscles. Participants move their arms and legs with disks stuck on their skin. Visits may also include: Exam by a physician expert in stomach and bowel disorders A piece of muscle and/or spinal fluid removed by needle Sponsoring Institute: National Institute of Neurological Disorders and Stroke ...
| Status | Terminated |
| Enrollment | 4 |
| Est. completion date | November 2, 2021 |
| Est. primary completion date | June 3, 2021 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | 11 Years to 70 Years |
| Eligibility | - INCLUSION CRITERIA: - Age 11 to 70 inclusive - Competent to provide informed consent and assent (consent of a parent or guardian will be required for pediatric participants) - Positive genetic test for DM1 or DM2 (Genetic testing for DM1 or DM2 may be determined after enrollment EXCLUSION CRITERIA: - Concurrent enrollment in a clinical trial or participation in an investigative drug trial within 6 months of study entry. - Concurrent pregnancy or planned pregnancy during the course of the study. - Concurrent medical condition that would, in the opinion of the investigator or clinical evaluator, compromise performance on study measures: - Clinically significant infections or medical illness within 30 days from study entry. - History of, or abnormal laboratory values indicative of, significant medical, neurologic (other than DM1 or DM2), or psychiatric disorders. - A recent history (30 days prior to study entry) 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 5 years from study entry, multiple sclerosis, or other serious medical illness. - Other diseases that mimic the signs or symptoms of DM1 or DM2. 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 from study entry). - 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 study entry (DSM-V criteria will be used for the diagnosis and level of a substance use disorder: - 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 from study entry. Note: non-ambulatory participants are not excluded but are limited to <15% of enrollment. Individuals using a cane or walker will not be examined for gait, balance and mobility. |
| Country | Name | City | State |
|---|---|---|---|
| United States | National Institutes of Health Clinical Center | Bethesda | Maryland |
| Lead Sponsor | Collaborator |
|---|---|
| National Institute of Neurological Disorders and Stroke (NINDS) |
United States,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | to characterize baseline status and disease progression over two years in the handgrip strength by dynamometry of DM1 and DM2 patients. | strength of handgrip by hand-held force transducer | one-year and two-years | |
| Secondary | muscle strength, myotonia, physical function of limbs, MRI changes of muscle fat %, cognition, brain MRI changes, diaphragm function, muscle RNA biomarkers, sleep, speech, swallow, bowel function | changes in the outcome measures described from baseline | one and two years | |
| Secondary | CSF RNA biomarkers, genetic modifiers of disease severity | RNA splicing changes using RNA-seq in CSF and Genome-wide association study for genetic variants predicting disease severity in collaboration with DMCRN | one and two years |