Registry of X-linked Adrenoleukodystrophy

Recruiting

• Conditions: X-linked Adrenoleukodystrophy

• Registration Number: NCT05939232
• Lead Sponsor: Beijing Tiantan Hospital

Brief 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.

Detailed 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.

Study Timeline

• Study First Submitted: 2023-05-16
• Status Verified: 2023-07
• Study First Submitted QC: 2023-07-02
• Last Update Submitted: 2023-07-02
• Study First Posted: 2023-07-11
• Last Update Posted: 2023-07-11
• Study Start: 2023-07-20
• Primary Completion: 2028-12-01
• Study Completion: 2028-12-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Epidemiological characteristics in Chinese X-ALD patients	5 years	Constructing a Chinese X-ALD epidemiological information database by collecting epidemiological information from X-ALD patients.
New pathogenic loci of Chinese X-ALD patients in whole genome sequencing/whole exon sequencing	5 years	To find and identify new pathogenic loci of X-ALD in whole genome sequencing/whole exon sequencing through comparing the differences of whole genome sequencing/whole exon sequencing between X-ALD patients and carrier-control individuals.
Clinical characteristics in Chinese X-ALD patients	5 years	Constructing a Chinese X-ALD clinical sympotoms information database by collecting clinical symptoms information from X-ALD patients.
Imaging characteristics in Chinese X-ALD patients	5 years	Constructing a Chinese X-ALD patient's head MRI information database by collecting head MRI information from X-ALD patients.
The disease development in Chinese X-ALD patients	5 years	Record the progress of patients' clinical symptoms from baseline through 5-year follow-up.

Secondary Outcome Measures

Name	Time	Method
The change of imagin features in Chinese X-ALD patients	day 1, year 1, year 2, year 3, year 4, year 5	Record the change of the patient's head MRI from baseline through follow-up every year.
The associations between genetic factors and clinical characteristics of Chinese X-ALD patients	5 years	β coefficient and 95%CI values in linear regression, OR and 95%CI values in logistic regression analysis, and HR and 95%CI values in cox proportional hazards regression analysis for the associations between genetic factors and clinical characteristics of X-ALD.
Etiology of Chinese X-ALD patients	5 years	Etiological factors,including genetic and environmental etiological factors, will be explored by genomic analysis, lasso regression, multiple logistic regression, and cox proportional hazards regression.
The associations between genetic factors and outcomes of Chinese X-ALD patients	5 years	β coefficient and 95%CI values in linear regression, OR and 95%CI values in logistic regression analysis, and HR and 95%CI values in cox proportional hazards regression analysis for the associations between genetic factors and outcomes of X-ALD.
The associations between genetic factors and imaging characteristics of Chinese X-ALD patients	5 years	β coefficient and 95%CI values in linear regression, OR and 95%CI values in logistic regression analysis, and HR and 95%CI values in cox proportional hazards regression analysis for the associations between genetic factors and imaging characteristics of X-ALD.
The associations between genetic factors and the long-term changes of imaging characteristics of Chinese X-ALD patients	5 years	β coefficient and 95%CI values in linear regression, OR and 95%CI values in logistic regression analysis, and HR and 95%CI values in cox proportional hazards regression analysis for the associations between genetic factors and the long-term changes of imaging characteristics of X-ALD.

Trial Locations

Locations (1)

Beijing Tiantan Hospital; 🇨🇳 Beijing, China