Registry of X-linked Adrenoleukodystrophy

Last updated: July 2, 2023
Sponsor: Beijing Tiantan Hospital
Overall Status: Active - Recruiting

Phase

N/A

Condition

Bone Marrow Disorder

Treatment

N/A

Clinical Study ID

NCT05939232
KY2023-011-02
  • Ages 6-70
  • All Genders
  • Accepts Healthy Volunteers

Study 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 Criteria

Inclusion

Inclusion Criteria: X-ALD group:

  • Meet the diagnostic criteria of X-ALD and supported by the results of genetic and verylong chain fatty acid (VLCFA) test;
  • Age: 6 - 70 years old;
  • Able to communicate normally, and complete the test of scale as instructed (confirmedby 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 withthe X-ALD group, volunteer to participate in this study, could complete the test of scaleas instructed, and meet the following criteria:
  • Eligible for asymptomatic carriers in genetic tests (preference of patient's motherand close relatives);
  • Age: 6 - 70 years old, able to complete the test of scale as instructed (confirmed bythe field test of scale);
  • No history of psychiatric diseases.

Exclusion

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 insulinpump), claustrophobia, and other MRI contraindications;
  • History of surgery associated with gastrointestinal tract;
  • No informed consent;
  • Unable to tolerate MRI or eye related tests.

Study Design

Total Participants: 200
Study Start date:
July 20, 2023
Estimated Completion Date:
December 01, 2028

Study 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.

Connect with a study center

  • Beijing Tiantan Hospital

    Beijing, 100050
    China

    Active - Recruiting

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