Overview
This study is a observational study conducted through recruiting X-linked adrenoleukodystrophy (X-ALD) patients, to build a comprehensive evaluation and long-term follow-up platform for X-ALD patients, and to provide a theoretical basis for the treatment and management of X-ALD patients.
Description
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.
Eligibility
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.