Registry of X-linked Adrenoleukodystrophy

In this study, X-ALD patients will be selected as study participants. Through a longitudinal collection of genetic, imaging and clinical symptoms data of the patients and carriers. The purpose of this study is to build a comprehensive evaluation and long-term follow-up platform for X-ALD patients. Through the long-term follow-up of imaging and clinical symptoms progress and outcome of X-ALD patients, combined with genetic data, we will improve the relationships between genes and phenotypes, and explore the deep insight in the pathophysiological mechanism of X-ALD, to provide a theoretical basis for the treatment and management of X-ALD patients.

Inclusion criteria

X-ALD group：

• Meet the diagnostic criteria of X-ALD and supported by the results of genetic and very long chain fatty acid (VLCFA) test;
• Age: 6 - 70 years old;
• Able to communicate normally, and complete the test of scale as instructed (confirmed by the field test of scale);
• Sign the informed consent.

Carrier-control group:

Healthy people who have no significant difference in age, sex and education comparing with the X-ALD group, volunteer to participate in this study, could complete the test of scale as instructed, and meet the following criteria:

• Eligible for asymptomatic carriers in genetic tests (preference of patient's mother and close relatives);
• Age: 6 - 70 years old, able to complete the test of scale as instructed (confirmed by the field test of scale);
• No history of psychiatric diseases.

Exclusion criteria

• Other hereditary diseases;
• Other severe central nervous diseases;
• History of surgery of brain or eye;
• Psychiatric and psychological diseases, such as anxiety and depression;
• Metal foreign body or prosthesis in the human body (such as pacemaker and insulin pump), claustrophobia, and other MRI contraindications;
• History of surgery associated with gastrointestinal tract;
• No informed consent;
• Unable to tolerate MRI or eye related tests.