Adrenoleukodystrophy National Registry and Biorepository

Welcome to ALDNR

The ALD National Registry is looking to answer important questions about ALD related to factors that affect the development of adrenal insufficiency and cerebral disease in boys with ALD. To accomplish this we are interested in looking at biomarkers, the onset of imaging changes, early neurocognitive changes, the role of oxidative stress, and other keys as to who is at risk for ALD related issues. We need your help in developing this valuable resource for the clinicians, researchers and the families. This registry partners with State Newborn Screening Programs nationwide to provide valuable information for the children identified by the Newborn Screening Program. In addition, we are interested in identifying men with adrenomyeloneuropathy (AMN) and women who are affected by ALD and providing assessments and interventions to these adult populations. 

Why are we conducting this research? 

Our goal is to assemble a large resource of clinical, imaging, laboratory, and biospecimen data from families affected by ALD to help us better understand the natural history, underlying pathophysiology, impact and the outcomes of the disease. 

What are we asking participants to do? 

If you are interested in participating, whether for yourself or another family member affected by ALD, please enroll now. We will then reach out to you and obtain an online consent and request you to complete an intake survey to help us understand your unique situation. There will be a brief follow up every six months to determine what may have changed. We will collect medically relevant data (notes, laboratory test results, as well as MRI scans) with your permission. We will also request biologic specimens; a buccal (cheek cotton-tip) swab - once at the time of enrollment. We will also ask to obtain a blood, urine and stool sample periodically. The blood testing may be done with a scheduled test in the physician’s office at home, as part of regular monitoring. To make this as easy as we can, we will send a collection kit with instructions with a prepaid return label. Our team will coordinate these collections with you to obtain specimens during the regular blood draws.

How will I benefit from this study? 

Although your participation in this project may not have a direct benefit to you, it can help lead to exciting scientific advances in medicine that can help future patients. All information involved in this project is completely confidential.