Registry for understanding Adrenoleukodystrophy

Adrenoleukodystrophy National Registry Study

Observational Masonic Cancer Center, University of Minnesota · NCT03789721

This study is collecting health information and samples from people with Adrenoleukodystrophy to better understand the disease and find ways to improve treatment.

Quick facts

Study typeObservational
Enrollment1000 (estimated)
SexAll
SponsorMasonic Cancer Center, University of Minnesota Academic / other
Locations1 site (Minneapolis, Minnesota)
Trial IDNCT03789721 on ClinicalTrials.gov

What this trial studies

This registry aims to understand the natural history and disease progression of Adrenoleukodystrophy (ALD) by collecting and maintaining biospecimens from participants with confirmed or presumed ALD. Participants, including pediatric and adult patients, will provide medical histories and longitudinal biospecimens such as blood and urine samples. The study seeks to assemble a comprehensive resource of clinical, medical, and biological data to identify prognostic markers for disease progression and potentially develop effective interventions. The registry will also facilitate ongoing studies by providing access to samples and data.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with ALD or family members with known or presumed mutations in the ABCD1 gene.

Not a fit: Patients who have undergone bone marrow transplantation or other cellular therapies may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of Adrenoleukodystrophy, potentially resulting in better treatment options for patients.

How similar studies have performed: Other studies focusing on registries for genetic conditions have shown success in understanding disease progression and developing biomarkers.

Eligibility criteria

Show full inclusion / exclusion criteria
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.)

Where this trial is running

Minneapolis, Minnesota

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions ALDAdrenoleukodystrophyCerebral AdrenoleukodystrophyRegistry, VLCFA, ABCD1, X-chromosome
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.