Familial amyotrophic lateral sclerosis

This trial tested a custom-made drug called nL-TARD-001 in one person with ALS caused by a specific genetic mutation in TARDBP. The drug is an antisense oligonucleotide designed to target the faulty gene. The study measured changes in muscle function, breathing, and thinking over…

This study tested a drug called troriluzole in 141 adults with spinocerebellar ataxia, a rare disease that affects balance and coordination. Participants took either the drug or a placebo daily for 8 weeks. The main goal was to see if troriluzole could improve symptoms like walki…

This study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and…

This completed study looked at 40 people with spinocerebellar ataxia types 2 and 7, a rare brain disease that affects movement. Researchers used MRI scans and lumbar punctures over one year to track changes in the brain and body. The goal was to find reliable markers that could b…

This study looked at 70 elderly women with long-term non-specific low back pain to see how their balance relates to disability, fear of falling, and social participation. Researchers measured balance, disability, and community involvement. The goal is to better understand these c…