Registry of X-linked Adrenoleukodystrophy

X-linked Adrenoleukodystrophy Clinical Trial

Official title:

Registry of X-linked Adrenoleukodystrophy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05939232
• Other study ID #: KY2023-011-02
• Status: Recruiting
• Start date: July 20, 2023
• Est. completion date: December 1, 2028

Study information

• Verified date: July 2023
• Source: Beijing Tiantan Hospital
• Contact: Yilong Wang, MD, PhD
• Phone: 0086-010-67092222
• Email: yilong528[@]aliyun.com
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: December 1, 2028
• Est. primary completion date: December 1, 2028
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 6 Years to 70 Years

Eligibility

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.

Related Conditions & MeSH terms

• Adrenoleukodystrophy
• X-linked Adrenoleukodystrophy

Locations

Country	Name	City	State
China	Beijing Tiantan Hospital	Beijing

Sponsors (1)

Lead Sponsor	Collaborator
Beijing Tiantan Hospital

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	The disease development in Chinese X-ALD patients	Record the progress of patients' clinical symptoms from baseline through 5-year follow-up.	5 years
Primary	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
Secondary	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
Secondary	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.	day 1, year 1, year 2, year 3, year 4, year 5
Secondary	The associations between genetic factors and clinical characteristics of Chinese X-ALD patients	ß 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
Secondary	The associations between genetic factors and outcomes of Chinese X-ALD patients	ß 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
Secondary	The associations between genetic factors and imaging characteristics of Chinese X-ALD patients	ß 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
Secondary	The associations between genetic factors and the long-term changes of imaging characteristics of Chinese X-ALD patients	ß 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