Adrenoleukodystrophy National Registry Study

NCT03789721 | Recruiting

• 2 other identifiers: 2019NTLS027MT2019-01
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

The aim of this registry to understand the natural history and disease progression in ALD and potentially develop bio-markers using the biospecimens collected using this registry.

Conditions

ALD (Adrenoleukodystrophy); Adrenoleukodystrophy; Cerebral Adrenoleukodystrophy

Keywords

Registry, VLCFA, ABCD1, X-chromosome

Outcome Measures

Primary Outcomes (1)

• Collect Clinical and Epidemiological Data

  Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.

  10 Years

Study Arms (1)

Adrenoleukodystrophy

All patients living in the United States diagnosed with adrenoleukodystrophy, either by newborn screen, based on family history or otherwise, are eligible to participate in this study.

Other: Medical Record Abstraction; Other: Biospecimen Sample Collection

Interventions

Medical Record Abstraction OTHER

Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.

Adrenoleukodystrophy

Biospecimen Sample Collection OTHER

Collect research samples, when feasible for those diagnosed with ALD.

Adrenoleukodystrophy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

participants with Adrenoleukodystrophy (ALD) and known/presumed mutation for ALD.

You may qualify if:

• Age 0 - 100
• ALD patients or family member meeting any of the following criteria:
• Any patient diagnosed with ALD (confirmed by positive VLCFA testing and/or genetic mutation).
• Known or presumed mutation with ALD based on pedigree or confirmed mutation in ABCD1 gene
• Participants living in the United States and territories

You may not qualify if:

• Patients diagnosed with ALD who lack the capacity to consent/assent AND do not have a designated legally authorized representative or guardian.
• Patients who have undergone BMT or other cellular therapy .
• Patients not fluent in English who are unable to consent in-person at the BMT Journey Clinic.
• Patients who are illiterate
• Patient determined by the PI or designee to be unlikely to complete required study components (due to language barriers, compliance issues, etc.)

Sponsors & Collaborators

• Masonic Cancer Center, University of Minnesota: lead

Study Sites (1)

Masonic Cancer Center at University of Minnesota

Minneapolis, Minnesota, 55455, United States

RECRUITING

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

Central Study Contacts

Ashish Gupta, MD

CONTACT

612-626-2961; gupta461@umn.edu

Paul Orchard, MD

CONTACT

612-626-2961; orcha001@umn.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 99 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 14, 2018
• First Posted: December 31, 2018
• Study Start: May 1, 2019
• Primary Completion (Estimated): February 1, 2030
• Study Completion (Estimated): February 1, 2030
• Last Updated: May 8, 2025

Record last verified: 2025-05

Locations

US (1)