Registry for patients with X-linked Adrenoleukodystrophy

Registry of X-linked Adrenoleukodystrophy

This study is gathering information from people with X-linked adrenoleukodystrophy to better understand the condition and improve treatment options.

Quick facts

• Study type: Observational
• Enrollment: 200 (estimated)
• Ages: 6 Years to 70 Years
• Sex: All
• Sponsor: Beijing Tiantan Hospital (Academic / other)
• Locations: 1 site (Beijing)
• Trial ID: NCT05939232 on ClinicalTrials.gov

What this trial studies

This observational study aims to recruit patients diagnosed with X-linked adrenoleukodystrophy (X-ALD) to create a comprehensive evaluation and long-term follow-up platform. Participants will undergo longitudinal collection of genetic, imaging, and clinical symptom data to enhance understanding of the relationship between genes and phenotypes. The study seeks to explore the pathophysiological mechanisms of X-ALD, ultimately providing a theoretical basis for improved treatment and management strategies for affected individuals.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 6 to 70 years who meet the diagnostic criteria for X-ALD and can provide informed consent.

Not a fit: Patients with other hereditary diseases or severe central nervous system conditions may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better management and treatment options for patients with X-ALD.

How similar studies have performed: While this study is observational, similar approaches in genetic and phenotypic evaluations have shown promise in understanding other genetic disorders.

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.

Where this trial is running

Beijing

• Beijing Tiantan Hospital — Beijing, China (Recruiting)

Study contacts

• Principal investigator: Yilong Wang, MD,PhD — Beijing Tiantan Hospital, Capital Medical University, Beijing, China
• Study coordinator: Yilong Wang, MD, PhD

Conditions X-linked Adrenoleukodystrophy; Genetic data; Phenotype; Imaging feature; Mechanism