Registry of X-linked Adrenoleukodystrophy

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.

Study Overview

• Status: Recruiting
• Conditions: X-linked Adrenoleukodystrophy

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.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Yilong Wang, MD, PhD; Phone Number: 0086-010-67092222; Email: yilong528@aliyun.com

Study Locations

• China
  • Beijing, China, 100050
    • Recruiting
    • Beijing Tiantan Hospital
    • Contact: Yilong Wang, MD,PhD; Email: yilong538@gmail.com
    • Principal Investigator: yilong wang, M.D.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

X-linked adrenoleukodystrophy patients, and age,sex and education matched healthy carriers will be recruited from the hospital.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Secondary Outcome Measures

Outcome Measure	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	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

Collaborators and Investigators

• Sponsor: Beijing Tiantan Hospital
• Investigators: Principal Investigator: Yilong Wang, MD,PhD, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

Study record dates

Study Major Dates

• Study Start (Estimated): July 20, 2023
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2028

Study Registration Dates

• First Submitted: May 16, 2023
• First Submitted That Met QC Criteria: July 2, 2023
• First Posted (Actual): July 11, 2023

Study Record Updates

• Last Update Posted (Actual): July 11, 2023
• Last Update Submitted That Met QC Criteria: July 2, 2023
• Last Verified: July 1, 2023

More Information

Terms related to this study

• Keywords: Phenotype; X-linked Adrenoleukodystrophy; Mechanism; Genetic data; Imaging feature
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Demyelinating Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Endocrine System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Leukoencephalopathies; Adrenal Gland Diseases; Hereditary Central Nervous System Demyelinating Diseases; Peroxisomal Disorders; Adrenal Insufficiency; Adrenoleukodystrophy
• Other Study ID Numbers: KY2023-011-02

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No