An observational study in X-linked Adrenoleukodystrophy, sponsored by Beijing Tiantan Hospital. Recruiting at 1 site in China. Open to participants aged 6 Years to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-07-11.
Sponsored by Beijing Tiantan Hospital · Observational
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.
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.
X-linked adrenoleukodystrophy patients, and age,sex and education matched healthy carriers will be recruited from the hospital.
X-ALD group：
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:
Exclusion Criteria:
X-linked adrenoleukodystrophy (X-ALD) patients.
Carriers of mutation in gene encoding ATP-binding cassette subfamily D member 1 (ABCD1), who have no X-linked adrenoleukodystrophy and are matched with the X-ALD group according to age, sex and education.
Epidemiological characteristics in Chinese X-ALD patients
Constructing a Chinese X-ALD epidemiological information database by collecting epidemiological information from X-ALD patients.
Time frame: 5 years
Clinical characteristics in Chinese X-ALD patients
Constructing a Chinese X-ALD clinical sympotoms information database by collecting clinical symptoms information from X-ALD patients.
Time frame: 5 years
Imaging characteristics in Chinese X-ALD patients
Constructing a Chinese X-ALD patient's head MRI information database by collecting head MRI information from X-ALD patients.
Time frame: 5 years
The disease development in Chinese X-ALD patients
Record the progress of patients' clinical symptoms from baseline through 5-year follow-up.
Time frame: 5 years
New pathogenic loci of Chinese X-ALD patients in whole genome sequencing/whole exon sequencing
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.
Time frame: 5 years
Etiology of Chinese X-ALD patients
Etiological factors,including genetic and environmental etiological factors, will be explored by genomic analysis, lasso regression, multiple logistic regression, and cox proportional hazards regression.
Time frame: 5 years
The change of imagin features in Chinese X-ALD patients
Record the change of the patient's head MRI from baseline through follow-up every year.
Time frame: day 1, year 1, year 2, year 3, year 4, year 5
The associations between genetic factors and clinical characteristics of Chinese X-ALD patients
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.
Time frame: 5 years
The associations between genetic factors and outcomes of Chinese X-ALD patients
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.
Time frame: 5 years
The associations between genetic factors and imaging characteristics of Chinese X-ALD patients
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.
Time frame: 5 years
The associations between genetic factors and the long-term changes of imaging characteristics of Chinese X-ALD patients
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.
Time frame: 5 years
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Beijing Tiantan Hospital