Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM)

Launched by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE (NINDS) · Mar 7, 2019

Keywords

ClinConnect Summary

Objective: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common inherited skeletal myopathies in adults. RNA toxicity is the core disease mechanism, good molecular targets have been identified and there has been rapid progress in developing targeted therapies. However, incomplete characterization and limited biologic understanding of phenotypic heterogeneity, and lack of reliable clinical endpoints and biomarkers remain major obstacle in the road to therapeutic success in these diseases. The present study seeks to overcome these roadblocks building on previous work of the My...

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Eligibility criteria

• * 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.