X-linked AdrenoleukodystrophyNCT05939232
Registry of X-linked Adrenoleukodystrophy
An observational study of X-linked Adrenoleukodystrophy, run by Beijing Tiantan Hospital at 1 site in China.
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. Read more about this study
- Who is it for?
- Ages 6 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- X-linked Adrenoleukodystrophy
- How many people
- 200 participants
- Where
- 1 siteChina
- Study dates
- 20 Jul 2023to 1 Dec 2028
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: X-linked adrenoleukodystrophy patients, and age,sex and education matched healthy carriers will be recruited from the hospital.
Who may be able to join
- 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:
Show all 10Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
Beijing Tiantan Hospital
Beijing, 100050
Yilong Wang, MD,PhD, yilong538@gmail.com
yilong wang, M.D.
About this study
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.
Read the 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.
- Conditions
- X-linked Adrenoleukodystrophy
- Keywords
- X-linked Adrenoleukodystrophy, Genetic data, Phenotype, Imaging feature, Mechanism
- Medical subject headings
- Adrenoleukodystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Epidemiological characteristics in Chinese X-ALD patients
Constructing a Chinese X-ALD epidemiological information database by collecting epidemiological information from X-ALD patients.
Measured: 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.
Measured: 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.
Measured: 5 years
The disease development in Chinese X-ALD patients
Record the progress of patients' clinical symptoms from baseline through 5-year follow-up.
Measured: 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.
Measured: 5 years
Secondary outcomes (6)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jul 2023
- Study start20 Jul 2023 (estimated)
- Primary completion1 Dec 2028 (estimated)
- Study completion1 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-linked AdrenoleukodystrophyStudies of the same condition, open and under way.
- More trials run by Beijing Tiantan HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Beijing Tiantan Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, yilong Wang, Beijing Tiantan Hospital
- Investigators
- Yilong Wang, MD,PhD, Principal investigator, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05939232
- Sponsor's protocol ID
- KY2023-011-02
- Status last verified
- Jul 2023
- First submitted
- 16 May 2023
- Last updated
- 11 Jul 2023
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Jul 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Registry of X-linked Adrenoleukodystrophy
- ClinicalTrials.gov ID
- NCT05939232
- Acronym / sponsor ID
- KY2023-011-02
- Conditions
- X-linked Adrenoleukodystrophy
- Keywords
- X-linked Adrenoleukodystrophy, Genetic data, Phenotype, Imaging feature, Mechanism
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Beijing Tiantan HospitalUniversity, hospital or other
- Study start
- 20 Jul 2023 (estimated)
- Primary completion
- 1 Dec 2028 (estimated)
- Study completion
- 1 Dec 2028 (estimated)
- First posted
- 11 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 6 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- X-linked adrenoleukodystrophy patients, and age,sex and education matched healthy carriers will be recruited from the hospital.
Key inclusion criteria (10 listed)
- 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.
Key exclusion criteria (8 listed)
- 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;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Epidemiological characteristics in Chinese X-ALD patients
Time frame: 5 years
Constructing a Chinese X-ALD epidemiological information database by collecting epidemiological information from X-ALD patients.
Clinical characteristics in Chinese X-ALD patients
Time frame: 5 years
Constructing a Chinese X-ALD clinical sympotoms information database by collecting clinical symptoms information from X-ALD patients.
Imaging characteristics in Chinese X-ALD patients
Time frame: 5 years
Constructing a Chinese X-ALD patient's head MRI information database by collecting head MRI information from X-ALD patients.
The disease development in Chinese X-ALD patients
Time frame: 5 years
Record the progress of patients' clinical symptoms from baseline through 5-year follow-up.
New pathogenic loci of Chinese X-ALD patients in whole genome sequencing/whole exon sequencing
Time frame: 5 years
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.
6 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Jul 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Yilong Wang, MD,PhD principal investigator
Beijing Tiantan Hospital, Capital Medical University, Beijing, China
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-linked Adrenoleukodystrophy, run by Beijing Tiantan Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 11 Jul 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Yilong Wang, MD, PhD (0086-010-67092222, yilong528@aliyun.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Epidemiological characteristics in Chinese X-ALD patients (time frame: 5 years). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Jul 2023.