Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank

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Brief Title

Adrenoleukodystrophy National Registry Study

Official Title

Adrenoleukodystrophy National Registry Study

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.

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 [Patient Registry]

Primary Outcome

Collect Clinical and Epidemiological Data


ALD (Adrenoleukodystrophy)


Medical Record Abstraction

Study Arms / Comparison Groups

Description:  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.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

May 1, 2019

Completion Date

February 2030

Primary Completion Date

February 2030

Eligibility 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

          -  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.)




N/A - N/A

Accepts Healthy Volunteers



, 612-626-2961, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

Masonic Cancer Center, University of Minnesota

Study Sponsor

, , 

Verification Date

April 2022