Actively Recruiting
Registry of X-linked Adrenoleukodystrophy for Long-Term Evaluation and Follow-Up
Led by Beijing Tiantan Hospital · Updated on 2023-07-11
200
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting an observational study focused on X-linked adrenoleukodystrophy (X-ALD) patients. The study aims to create a comprehensive platform for evaluating and following up with X-ALD patients over the long term. By collecting detailed genetic, imaging, and clinical symptom data, the research seeks to understand the relationships between genes and disease features, improving knowledge about the disease's underlying mechanisms and supporting future treatment and management strategies. Participants include X-ALD patients diagnosed through genetic and very long chain fatty acid (VLCFA) tests, as well as healthy carriers of mutations in the ABCD1 gene who do not have X-ALD but match patients by age, sex, and education. The study involves a longitudinal approach with repeated assessments of imaging features and clinical symptoms over a five-year period. Genetic sequencing will also be conducted to identify new disease-related gene locations. During the study, participants will undergo regular evaluations including imaging, clinical symptom tracking, and genetic testing. Researchers will monitor disease development, imaging changes, and associations between genetics and clinical outcomes. The study will assess epidemiological, clinical, and imaging characteristics over five years, with ongoing safety and tolerance checks for procedures like MRI. This long-term follow-up aims to improve understanding of X-ALD and inform patient care.
CONDITIONS
Brief Title
Registry of X-linked Adrenoleukodystrophy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Meet diagnostic criteria for X-ALD confirmed by genetic and VLCFA tests
- Aged between 6 and 70 years old
- Able to communicate normally and complete scale tests as instructed
- Willing to sign informed consent
- For carrier group: healthy individuals matched by age, sex, and education without psychiatric diseases
- Carriers confirmed by genetic tests, preferably patient’s mother or close relatives
- Able to complete scale tests as instructed
You will not qualify if you...
- Presence of other hereditary diseases
- Other severe central nervous system diseases
- History of brain or eye surgery
- Psychiatric or psychological diseases such as anxiety and depression
- Metal foreign bodies or prostheses incompatible with MRI (e.g., pacemaker, insulin pump)
- Claustrophobia or other MRI contraindications
- History of gastrointestinal tract surgery
- Unable or unwilling to provide informed consent
- Unable to tolerate MRI or eye-related tests
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants undergo long-term follow-up involving genetic, imaging, and clinical symptom assessments to evaluate disease progression and outcomes of X-linked adrenoleukodystrophy over several years.
Imaging and clinical assessments at day 1, year 1, year 2, year 3, year 4, and year 5
Trial Site Locations
Total: 1 location
1
Beijing Tiantan Hospital
Beijing, China, 100050
Actively Recruiting
Research Team
Y
Yilong Wang, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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