Registry of X-linked Adrenoleukodystrophy

NCT ID: NCT05939232

Last Updated: 2023-07-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-07-20

Study Completion Date

2028-12-01

Brief Summary

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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

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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

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X-linked Adrenoleukodystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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X-ALD

X-linked adrenoleukodystrophy (X-ALD) patients.

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

6 Years

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Beijing Tiantan Hospital

OTHER

Sponsor Role lead

Responsible Party

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yilong Wang

Vice President of Beijing Tiantan Hospital

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Yilong Wang, MD,PhD

Role: PRINCIPAL_INVESTIGATOR

Beijing Tiantan Hospital, Capital Medical University, Beijing, China

Locations

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Beijing Tiantan Hospital

Beijing, , China

Site Status RECRUITING

Countries

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China

Central Contacts

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Yilong Wang, MD, PhD

Role: CONTACT

0086-010-67092222

Facility Contacts

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Yilong Wang, MD,PhD

Role: primary

Other Identifiers

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KY2023-011-02

Identifier Type: -

Identifier Source: org_study_id

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