Registry of X-linked Adrenoleukodystrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Epidemiological characteristics in Chinese X-ALD patients
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Years 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Epidemiological characteristics in Chinese X-ALD patients
时间窗: 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
时间窗: 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
时间窗: 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
时间窗: 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
时间窗: 5 years
Record the progress of patients' clinical symptoms from baseline through 5-year follow-up.
次要结局
- The change of imagin features in Chinese X-ALD patients(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(5 years)
- Etiology of Chinese X-ALD patients(5 years)
- The associations between genetic factors and outcomes of Chinese X-ALD patients(5 years)
- The associations between genetic factors and imaging characteristics of Chinese X-ALD patients(5 years)
- The associations between genetic factors and the long-term changes of imaging characteristics of Chinese X-ALD patients(5 years)
研究者
yilong Wang
Vice President of Beijing Tiantan Hospital
Beijing Tiantan Hospital