Adrenoleukodystrophy National Registry Study

Recruiting

• Conditions: ALD (Adrenoleukodystrophy); Adrenoleukodystrophy; Cerebral Adrenoleukodystrophy
• Interventions: Other: Medical Record Abstraction; Other: Biospecimen Sample Collection

• Registration Number: NCT03789721
• Lead Sponsor: 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.

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 Timeline

• Study First Submitted: 2018-12-14
• Study First Submitted QC: 2018-12-26
• Study First Posted: 2018-12-31
• Study Start: 2019-05-01
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-07
• Last Update Posted: 2025-05-08
• Primary Completion: 2030-02
• Study Completion: 2030-02

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Adrenoleukodystrophy	Biospecimen Sample Collection	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.
Adrenoleukodystrophy	Medical Record Abstraction	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.

Primary Outcome Measures

Name	Time	Method
Collect Clinical and Epidemiological Data	10 Years	Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.

Trial Locations

Locations (1)

Masonic Cancer Center at University of Minnesota; 🇺🇸 Minneapolis, Minnesota, United States