Adrenoleukodystrophy National Registry Study
Masonic Cancer Center, University of Minnesota
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.
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 confi…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
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…
Interventions
- OtherMedical Record Abstraction
Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.
- OtherBiospecimen Sample Collection
Collect research samples, when feasible for those diagnosed with ALD.
Location
- Masonic Cancer Center at University of MinnesotaMinneapolis, Minnesota