Observational Study Registry for X-linked Adrenoleukodystrophy Patients and Carriers Long-term Follow-up and Comprehensive Evaluation of X-ALD with Genetic and Imaging Data

What this Trial Is About

Researchers are conducting an observational study focused on X-linked adrenoleukodystrophy X-ALD patients. The study aims to create a comprehensive platform for evaluating and following up with X-ALD patients over the long term. By collecting detailed genetic, imaging, and clinical symptom data, the research seeks to understand the relationships between genes and disease features, improving knowledge about the diseases underlying mechanisms and supporting future treatment and management strategies. Participants include X-ALD patients diagnosed through genetic and very long chain fatty acid VLCFA tests, as well as healthy carriers of mutations in the ABCD1 gene who do not have X-ALD but match patients by age, sex, and education. The study involves a longitudinal approach with repeated assessments of imaging features and clinical symptoms over a five-year period. Genetic sequencing will also be conducted to identify new disease-related gene locations. During the study, participants will undergo regular evaluations including imaging, clinical symptom tracking, and genetic testing. Researchers will monitor disease development, imaging changes, and associations between genetics and clinical outcomes. The study will assess epidemiological, clinical, and imaging characteristics over five years, with ongoing safety and tolerance checks for procedures like MRI. This long-term follow-up aims to improve understanding of X-ALD and inform patient care.

Registry of X-linked Adrenoleukodystrophy