RecruitingNCT05939232

Registry of X-linked Adrenoleukodystrophy


Sponsor

Beijing Tiantan Hospital

Enrollment

200 participants

Start Date

Jul 20, 2023

Study Type

OBSERVATIONAL

Conditions

Summary

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

Min Age: 6 YearsMax Age: 70 Years

Inclusion Criteria10

  • 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 Criteria8

  • 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.

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Locations(1)

Beijing Tiantan Hospital

Beijing, China

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NCT05939232


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