Registry of X-linked Adrenoleukodystrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: X-linked Adrenoleukodystrophy. Basic parameters: 6 years — 70 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- Epidemiological characteristics in Chinese X-ALD patients [Time frame: 5 years]
- Clinical characteristics in Chinese X-ALD patients [Time frame: 5 years]
- Imaging characteristics in Chinese X-ALD patients [Time frame: 5 years]
- The disease development in Chinese X-ALD patients [Time frame: 5 years]
- New pathogenic loci of Chinese X-ALD patients in whole genome sequencing/whole exon sequencing [Time frame: 5 years]
Secondary outcome measures (6)
- Etiology of Chinese X-ALD patients [Time frame: 5 years]
- The change of imagin features in Chinese X-ALD patients [Time frame: 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 [Time frame: 5 years]
- The associations between genetic factors and outcomes of Chinese X-ALD patients [Time frame: 5 years]
- The associations between genetic factors and imaging characteristics of Chinese X-ALD patients [Time frame: 5 years]
- The associations between genetic factors and the long-term changes of imaging characteristics of Chinese X-ALD patients [Time frame: 5 years]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
China · 1 center
- Beijing Tiantan Hospital — Beijing
Identifiers
NCT: NCT05939232 · KY2023-011-02