adrenoleukodystrophy, ALD
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: 1. Selection criteria of X-linked adrenoleukodystrophy (X-ALD): (1) Conform to X-ALD diagnostic criteria, and the results of gene detection and very long chain fatty acid (VLCFA) were supported; (2) Age: 6-70 years old; (3) Can communicate normally and complete the scale test independently (confirmed by on-site scale test); (4) Signed the informed consent, and volunteer to participate in this research. 2. Selection criteria of carriers: Carriers whose age, gender, education level match the patient group, voluntarily participate in this study and can independently complete the scale test, and meet the following criteria: (1) Asymptomatic carriers aged 6-70 who meet the genetic test and complete the scale test independently (confirmed by on-site scale test); (2) No family genetic disease, no history of mental illness.
Exclusion criteria
Exclusion criteria: Subjects can't be enrolled if they meet any of the following criteria: 1. Other genetic diseases; 2. Other severe central nervous system diseases; 3. Have a history of brain or eye surgery; 4. Depression, anxiety, and other mental diseases; 5. Magnetic resonance examination taboo: Metal foreign body or prosthesis in the body (pacemaker, insulin pump), claustrophobia, and others; 6. Have a history of gastrointestinal-related surgery; 7. Obtain no informed consent; 8. Unable to tolerate MRI or ophthalmologic related examinations.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Multi-parameter MRI examination of head;neuropsychiatric inventory,NPI; | — |
Secondary
| Measure | Time frame |
|---|---|
| Blood test;urine examination;Stool detection;ophthalmologic examination; | — |
Countries
China
Contacts
Department of Neurosurgery, Southwest Hospital, the Army Medical University (Third Military Medical University), Chongqing, China;