Registry of X-linked Adrenoleukodystrophy

NCT05939232 | Recruiting DMC

• 1 other identifier: KY2023-011-02
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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.

Conditions

X-linked Adrenoleukodystrophy

Keywords

X-linked Adrenoleukodystrophy; Genetic data; Phenotype; Imaging feature; Mechanism

Outcome Measures

Primary Outcomes (5)

• Epidemiological characteristics in Chinese X-ALD patients

  Constructing a Chinese X-ALD epidemiological information database by collecting epidemiological information from X-ALD patients.

  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.

  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.

  5 years

• The disease development in Chinese X-ALD patients

  Record the progress of patients' clinical symptoms from baseline through 5-year follow-up.

  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.

  5 years

Secondary Outcomes (6)

• Etiology of Chinese X-ALD patients

  5 years

• The change of imagin features in Chinese X-ALD patients

  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

  5 years

• The associations between genetic factors and outcomes of Chinese X-ALD patients

  5 years

• The associations between genetic factors and imaging characteristics of Chinese X-ALD patients

  5 years

Study Arms (2)

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.

Eligibility Criteria

• Age: 6 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Beijing Tiantan Hospital: lead

Study Sites (1)

Beijing Tiantan Hospital

Beijing, 100050, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, urine, and feces were retained at baseline, 1 year, 2 year, 3 year, 4 year and 5 year during follow-up. Details of biospecimen sampling as the following: numbers of sampling: 200 subjects; serum: 21600 tubes, 0.5mL/tube; plasma: 7200 tubes, 0.5mL/tube; urine: 24000 tubes, 1mL/tube; feces: 7200 tubes, 12g/tube; other biospecimen (white blood cell): 6000 tubes, 0.5mL/tube.

MeSH Terms

Conditions

Adrenoleukodystrophy

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Demyelinating Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Peroxisomal Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Insufficiency; Adrenal Gland Diseases; Endocrine System Diseases

Study Officials

• Yilong Wang, MD,PhD

  Beijing Tiantan Hospital, Capital Medical University, Beijing, China

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Yilong Wang, MD, PhD

CONTACT

0086-010-67092222; yilong528@aliyun.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Vice President of Beijing Tiantan Hospital

Study Record Dates

• First Submitted: May 16, 2023
• First Posted: July 11, 2023
• Study Start: July 20, 2023
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: July 11, 2023

Record last verified: 2023-07

Locations

CN (1)