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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| X-ALD | X-linked adrenoleukodystrophy (X-ALD) patients. | ||
| Carrier-control (CC) | 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| Epidemiological characteristics in Chinese X-ALD patients | Constructing a Chinese X-ALD epidemiological information database by collecting epidemiological information from X-ALD patients. | 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. | 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. | 5 years |
| The disease development in Chinese X-ALD patients | Record the progress of patients' clinical symptoms from baseline through 5-year follow-up. | 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. | 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 5 years |
| The change of imagin features in Chinese X-ALD patients |
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Inclusion Criteria:
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:
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X-linked adrenoleukodystrophy patients, and age,sex and education matched healthy carriers will be recruited from the hospital.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yilong Wang, MD, PhD | Contact | 0086-010-67092222 | yilong528@aliyun.com |
| Name | Affiliation | Role |
|---|---|---|
| Yilong Wang, MD,PhD | Beijing Tiantan Hospital, Capital Medical University, Beijing, China | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Beijing Tiantan Hospital | Recruiting | Beijing | 100050 | China |
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| ID | Term |
|---|---|
| D000326 | Adrenoleukodystrophy |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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Whole blood, urine, and feces were retained at baseline, 1 year, 2 year, 3 year, 4 year and 5 year during follow-up. Details of biospecimen sampling as the following:
numbers of sampling: 200 subjects; serum: 21600 tubes, 0.5mL/tube; plasma: 7200 tubes, 0.5mL/tube; urine: 24000 tubes, 1mL/tube; feces: 7200 tubes, 12g/tube; other biospecimen (white blood cell): 6000 tubes, 0.5mL/tube.
Record the change of the patient's head MRI from baseline through follow-up every year. |
| 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. | 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. | 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. | 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. | 5 years |
| D009422 | Nervous System Diseases |
| D020279 | Hereditary Central Nervous System Demyelinating Diseases |
| D056784 | Leukoencephalopathies |
| D003711 | Demyelinating Diseases |
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D008661 | Metabolism, Inborn Errors |
| D018901 | Peroxisomal Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D000309 | Adrenal Insufficiency |
| D000307 | Adrenal Gland Diseases |
| D004700 | Endocrine System Diseases |