Adrenoleukodystrophy National Registry Study

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.

Study Overview

• Status: Recruiting
• Conditions: Cerebral Adrenoleukodystrophy; Adrenoleukodystrophy; ALD (Adrenoleukodystrophy)
• Intervention / Treatment: Other: Medical Record Abstraction; Other: Biospecimen Sample Collection

Detailed Description

This is a prospective, non-therapeutic protocol designed to create and maintain a registry of participants with Adrenoleukodystrophy (ALD) and known/presumed mutation for ALD. This study also involves maintaining a prospective biorepository to collect and store buccal swab, blood, stool and urine samples as well. In this protocol, pediatric (including infants), adolescents and adult patients with confirmed or presumed ALD (based on positive VLCFA testing and/or confirmed mutation) will be offered potential study participation. Additionally, presumed mutation for ALD (based on pedigree or confirmed mutation) will be offered potential study participation. After appropriate consent (online or in-person), subjects will be requested to provide a medical history (with authorization of release of medical records), longitudinal biospecimens, and permission to perform laboratory analyses on these samples. The overall goal is to understand the natural disease course in affected and unaffected patients (identified patients and relatives with a diagnosis of ALD), as well as women with ALD to assemble a resource of clinical, medical, and biological data from the participants. This study also aims to understand the outcomes of this disease, as well as possibly develop biomarkers to identify prognostic markers for disease progression, which may help develop effective interventions. The biospecimen bank and registry will provide access to samples and data for the ongoing studies as well as will provide an important resource for the future research.

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Ashish Gupta, MD; Phone Number: 612-626-2961; Email: gupta461@umn.edu
• Study Contact Backup: Name: Paul Orchard, MD; Phone Number: 612-626-2961; Email: orcha001@umn.edu

Study Locations

• United States
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • Recruiting
      • Masonic Cancer Center at University of Minnesota
      • Contact: Phil Lacher; Phone Number: 612-626-2977; Email: placher@umn.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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

Description

Inclusion Criteria

• 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

Exclusion Criteria

• 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.)

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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; Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.; Other: Biospecimen Sample Collection; Collect research samples, when feasible for those diagnosed with ALD.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Collect Clinical and Epidemiological Data	Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.	10 Years

Collaborators and Investigators

• Sponsor: Masonic Cancer Center, University of Minnesota

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2019
• Primary Completion (Estimated): February 1, 2030
• Study Completion (Estimated): February 1, 2030

Study Registration Dates

• First Submitted: December 14, 2018
• First Submitted That Met QC Criteria: December 26, 2018
• First Posted (Actual): December 31, 2018

Study Record Updates

• Last Update Posted (Actual): May 12, 2026
• Last Update Submitted That Met QC Criteria: May 11, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Registry, VLCFA, ABCD1, X-chromosome
• Additional Relevant MeSH Terms: Neurologic Manifestations; Endocrine System Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Neurobehavioral Manifestations; Demyelinating Diseases; Heredodegenerative Disorders, Nervous System; Adrenal Gland Diseases; Intellectual Disability; Genetic Diseases, X-Linked; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Adrenal Insufficiency; Peroxisomal Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; X-Linked Intellectual Disability; Adrenoleukodystrophy
• Other Study ID Numbers: 2019NTLS027; MT2019-01 (Other Identifier: University of Minnesota Masonic Cancer Center)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No