Evaluation of Outcome Metrics in Alexander Disease

What this Trial Is About

This research aims to define the natural history of Alexander Disease, a rare neurological condition that affects motor skills, speech, swallowing, and quality of life. The study focuses on understanding how the disease progresses over time by collecting clinical outcome assessments and biological samples for measuring specific protein levels related to the disease. Participants will undergo various physical examinations including physical therapy, occupational therapy, speech and language therapy, neurocognitive and swallowing assessments. Caregivers or patients may also complete questionnaires. Specimen collection, such as blood and cerebrospinal fluid samples, is optional. Participants are asked to return at least once a year for repeated assessments over several years. During the study, researchers will measure changes in gross motor function and motor proficiency over a period of up to 10 years. These evaluations include clinical tests and questionnaires to track disease impact. The data collected will help design future treatment trials. Participant involvement includes annual visits for assessments and optional specimen collection, with ongoing monitoring to understand disease progression and outcomes.

Evaluation of Outcome Metrics in Alexander Disease