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Adrenoleukodystrophy National Registry Study

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ClinicalTrials.gov Identifier: NCT03789721
Recruitment Status : Recruiting
First Posted : December 31, 2018
Last Update Posted : April 25, 2022
Information provided by (Responsible Party):
Masonic Cancer Center, University of Minnesota

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.

Condition or disease Intervention/treatment
ALD (Adrenoleukodystrophy) Adrenoleukodystrophy Cerebral Adrenoleukodystrophy 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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 99 Years
Official Title: Adrenoleukodystrophy National Registry Study
Actual Study Start Date : May 1, 2019
Estimated Primary Completion Date : February 2030
Estimated Study Completion Date : February 2030

Group/Cohort Intervention/treatment
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.

Primary Outcome Measures :
  1. Collect Clinical and Epidemiological Data [ Time Frame: 10 Years ]
    Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
participants with Adrenoleukodystrophy (ALD) and known/presumed mutation for ALD.

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.)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03789721

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Contact: Ashish Gupta, MD 612-626-2961 gupta461@umn.edu
Contact: Paul Orchard, MD 612-626-2961 orcha001@umn.edu

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United States, Minnesota
Masonic Cancer Center at University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Phil Lacher    612-626-2977    placher@umn.edu   
Sponsors and Collaborators
Masonic Cancer Center, University of Minnesota
Additional Information:

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Responsible Party: Masonic Cancer Center, University of Minnesota
ClinicalTrials.gov Identifier: NCT03789721    
Other Study ID Numbers: 2019NTLS027
MT2019-01 ( Other Identifier: University of Minnesota Masonic Cancer Center )
First Posted: December 31, 2018    Key Record Dates
Last Update Posted: April 25, 2022
Last Verified: April 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Masonic Cancer Center, University of Minnesota:
Registry, VLCFA, ABCD1, X-chromosome
Additional relevant MeSH terms:
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Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Hereditary Central Nervous System Demyelinating Diseases
Demyelinating Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Metabolism, Inborn Errors
Peroxisomal Disorders
Metabolic Diseases
Adrenal Insufficiency
Adrenal Gland Diseases
Endocrine System Diseases