Plain-English translation of NCT04394871 on ClinicalTrials.gov ↗ · Source last updated · Translation generated · How we translate trials
This is an observational study—meaning researchers will watch and collect information rather than test a new medication. The study focuses on rare inherited nerve diseases caused by mutations in genes like SETX (which causes ALS4), RNASEH1, and RNASEH2. Researchers will collect blood samples, genetic information, and clinical data from patients, disease control participants, and healthy volunteers to understand how these diseases develop and progress over time.
These rare inherited nerve diseases are not well understood, and doctors need better tools to track disease progression and test future treatments. By collecting samples and monitoring patients over several years, researchers hope to identify biological markers that could help predict disease severity and measure whether new therapies actually work.
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If you join this study, you will have annual visits for 3 to 5 years depending on which group you're in. At each visit, you'll donate blood samples, have your genes tested, and undergo clinical assessments including possibly MRI scans and neurological exams. Healthy volunteers will have a single visit to provide baseline information. All information collected will help researchers understand how these diseases progress and develop better ways to test future treatments.
AI-generated summary from trial data · Jun 1, 2026 · Not medical advice
United States