Study of LBSL in people with DARS2 mutations

This trial studies whether a home exercise program is safe and helpful for people with certain neurodegenerative conditions, including X-linked adrenoleukodystrophy and DARS2-related disease, as well as some other similar diagnoses. You would be asked to do exercises at home and be assessed on your walking and strength/safety.

This study collects brain-related medical information and biological samples to help researchers better understand leukodystrophies and other white-matter brain disorders. It may help future diagnosis and treatments by building a valuable “biobank” of patient data and samples.

This study follows people with rare genetic conditions (GM1, GM2, sialidosis, or galactosialidosis) that affect how the body breaks down certain substances in cells. Researchers track how these diseases progress to better understand them and potentially help future patients.

This study aims to understand genetic factors in lysosomal storage disorders—rare conditions where the body cannot break down certain substances. Researchers will collect information from patients with these disorders, their family members, and healthy volunteers to learn how these diseases develop and affect people over time.

This study follows children with LAMA2-related muscular dystrophy to learn how the condition changes over time. It does not test a new treatment, but helps researchers understand the disease better.

This study helps people understand a protein called alpha-synuclein that may be related to memory problems and movement disorders. Researchers will either test your spinal fluid or skin to look for this protein, then discuss the results with you and measure how you're doing over time.