Registry of X-linked Adrenoleukodystrophy

Launched by BEIJING TIANTAN HOSPITAL · Jul 2, 2023

Keywords

ClinConnect Summary

This clinical trial is focused on studying X-linked adrenoleukodystrophy (X-ALD), a genetic condition that affects the nervous system. Researchers are recruiting patients with X-ALD to create a detailed registry that will help track their health and treatment over time. This study aims to improve our understanding of X-ALD and provide better management and treatment options for those affected by the condition.

To participate, individuals must be between 6 and 70 years old and have a confirmed diagnosis of X-ALD through genetic testing. They should also be able to communicate and complete specific tests. There is also a control group of healthy volunteers who are closely related to X-ALD patients and meet similar age and communication criteria. Participants will undergo various evaluations and follow-ups to gather important health information. It’s important to note that individuals with certain other medical conditions, such as severe neurological disorders or psychiatric issues, cannot participate in this study.

Gender

ALL

Eligibility criteria

• 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.