X-linked Adrenoleukodystrophy
Conditions
Keywords
X-linked Adrenoleukodystrophy, Genetic data, Phenotype, Imaging feature, Mechanism
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.
Interventions
None listed
Sponsors
Beijing Tiantan Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to 70 Years
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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 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. |
| 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. |
| 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. |
Countries
China
Contacts
Primary ContactYilong Wang, MD, PhD
Outcome results
None listed