Clinical trial NCT05939232: Registry of X-linked Adrenoleukodystrophy
Official title: Registry of X-linked Adrenoleukodystrophy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: X-linked Adrenoleukodystrophy
Keywords: X-linked Adrenoleukodystrophy
Genetic data
Phenotype
Imaging feature
Mechanism
Lead sponsor: Beijing Tiantan Hospital
Sponsor class: OTHER
First posted: 2023-07-11
Enrollment: 200
Sex: ALL
Minimum age (years): 6
Maximum age (years): 70
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Epidemiological characteristics in Chinese X-ALD patients
timeFrame: 5 years
measure: Clinical characteristics in Chinese X-ALD patients
timeFrame: 5 years
measure: Imaging characteristics in Chinese X-ALD patients
timeFrame: 5 years
measure: The disease development in Chinese X-ALD patients
timeFrame: 5 years
measure: New pathogenic loci of Chinese X-ALD patients in whole genome sequencing/whole exon sequencing
timeFrame: 5 years
Secondary outcomes:
measure: Etiology of Chinese X-ALD patients
timeFrame: 5 years
measure: The change of imagin features in Chinese X-ALD patients
timeFrame: day 1, year 1, year 2, year 3, year 4, year 5
measure: The associations between genetic factors and clinical characteristics of Chinese X-ALD patients
timeFrame: 5 years
measure: The associations between genetic factors and outcomes of Chinese X-ALD patients
timeFrame: 5 years
measure: The associations between genetic factors and imaging characteristics of Chinese X-ALD patients
timeFrame: 5 years
measure: The associations between genetic factors and the long-term changes of imaging characteristics of Chinese X-ALD patients
timeFrame: 5 years
Other outcomes:
Locations:
city: Beijing
country: China
facility: Beijing Tiantan Hospital
Study officials:
affiliation: Beijing Tiantan Hospital, Capital Medical University, Beijing, China
name: Yilong Wang, MD,PhD
role: PRINCIPAL_INVESTIGATOR
References: