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.
Eligibility
Sex
ALL
Min age
6 Years
Max age
70 Years
Healthy volunteers
Accepted
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.
Primary outcome measure(s)
Epidemiological characteristics in Chinese X-ALD patients — 5 years Constructing a Chinese X-ALD epidemiological information database by collecting epidemiological information from X-ALD patients.
Clinical characteristics in Chinese X-ALD patients — 5 years Constructing a Chinese X-ALD clinical sympotoms information database by collecting clinical symptoms information from X-ALD patients.
Imaging characteristics in Chinese X-ALD patients — 5 years Constructing a Chinese X-ALD patient's head MRI information database by collecting head MRI information from X-ALD patients.
The disease development in Chinese X-ALD patients — 5 years Record the progress of patients' clinical symptoms from baseline through 5-year follow-up.
New pathogenic loci of Chinese X-ALD patients in whole genome sequencing/whole exon sequencing — 5 years To find and identify new pathogenic loci of X-ALD in whole genome sequencing/whole exon sequencing through comparing the differences of whole genome sequencing/whole exon sequencing between X-ALD patients and carrier-control individuals.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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