ALD Connect

The Grey Zone

The Grey Zone Project focuses on families who have received positive newborn screening results and have been told that their child carries a variant of uncertain significance (VUS) in the ABCD1 gene. These families are in a diagnostic “grey zone” because it is unclear whether their child has ALD. The project provides validated, confirmatory C26:0-lysoPC testing to resolve this uncertainty.

This is an important project for our patients, families, and physicians. This is an international multi-site study. We would appreciate your help to make this successful.

The Grey Zone

Newborn screening has identified many boys and families with variants of ABCD1 who have no family history of any ALD-related disease symptoms, even with older relatives with the same variant. These variants are reported as “variants of uncertain significance (VUS)” on genetic testing reports. The Grey Zone Project provides the confirmatory diagnostic testing needed to determine if the C26:0-LPC is in the normal range or in the established ALD range.

The Grey Zone Project

How To Participate

Am I eligible to participate in the study?

You are eligible to participate in The Grey Zone if you can answer “Yes” to the following questions:

  1. Is your ABCD1 gene variant a Variant of Uncertain Significance? Check here.
  2. Is everyone in your family who has this ABCD1 variant asymptomatic?

*Please note that if you or any of your family members with ALD have symptoms of any kind, including adrenal insufficiency or adult-onset myeloneuropathy, you are not eligible to participate in this study.

How do I participate in the study?

You can choose to provide information about your health and submit a blood spot card for analysis. You will need to complete forms, have your blood drawn, have your physician or lab make blood spot cards, and ship them to our study team. ALD Connect does not pay for the cost of the blood draw, but we can provide you a shipping label. If you would like to participate, please request a kit using the button below.

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Meet the Researchers

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Josh Bonkowsky, MD, PhD

Josh Bonkowsky, MD, PhD

Board of Directors
The Grey Zone Project

Dr. Josh Bonkowsky is a co-founder of ALD Connect. He is a pediatric neurologist specializing in clinical care and research.  He is a professor of Pediatrics at the University of Utah School of Medicine.

After graduating from Harvard College, he spent one year on a Fulbright Fellowship in Vienna, Austria.  He received his MD and PhD degrees from the University of California, San Diego, and completed residency training at the University of Utah (pediatrics), Children’s Hospital of Boston and University of Utah (pediatric neurology).

A physician-scientist with interests in clinical and bench research, he studies nervous system development and disease. He has been continuously funded by NIH since 2006, including award of the 2012 Director’s New Innovator grant; and his bibliography includes over 90 peer-reviewed articles.

Dr. Bonkowsky is the Division Chief of Pediatric Neurology at Primary Children’s Hospital, and the Director of the Primary Children’s Center for Personalized Medicine. In addition to these duties, he enjoys his more informal roles, such as the summer picnic with taco truck; and, critically, the Annual Cookie Contest.

Since 2006, Dr. Bonkowsky has personally mentored 60 trainees; including 35 women, and 7 under-represented minority trainees.  Together with his wife, a pediatric infectious disease physician, he juggles his personal and professional responsibilities.  In his “spare” time he enjoys camping with his daughter, building a quasi-functional radio telescope with his sons, and trail running.

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Stephan Kemp, PhD

Stephan Kemp, PhD

Board of Directors
The Grey Zone Project

Dr. Stephan Kemp is a Professor at the Amsterdam University Medical Center, the Netherlands. He was trained as a translational researcher at Johns Hopkins University/ Kennedy Krieger Institute, Baltimore, Maryland, USA and obtained his PhD in 1999 at the University of Amsterdam. Dr. Kemp has more >25 years of experience with ALD research and published >90 papers and book chapters on ALD. In 1999, together with Dr. Hugo Moser, he founded the ALD Mutation Database (www.x-ald.nl), which moved to www.adrenoleukodystrophy.info in 2017. He is a member of the scientific board of the European Leukodystrophy Association (ELA) and the United Leukodystrophy Foundation. Dr. Kemp is the project leader of the SCAN study; the pilot for implementing ALD newborn screening in the Netherlands. In 2015, he received the AMC Societal Impact Award (ASIA). His research focuses on lipid metabolism and neurotoxicity.

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Troy Lund, MSMS, PhD, MD

Troy Lund, MSMS, PhD, MD

Board of Directors
The Grey Zone Project

Dr. Troy Lund is a Professor in the Department of Pediatrics, Division of Blood and Marrow Transplantation and Cellular Therapy, and Associate Director of the Leukodystrophy Center at the University of Minnesota, the largest transplant center for boys with cerebral ALD.

He is a recognized expert in allogeneic bone marrow transplantation (BMT) and gene therapy and has provided clinical care to boys with ALD from around the world.

Dr. Lund is deeply committed to advancing safer and more effective treatments for cerebral ALD. He leads multiple active research efforts aimed at improving outcomes for boys at every stage of disease through an integrated bench-to-bedside approach that spans both clinical care and laboratory investigation. A longstanding focus of his work is biomarker discovery. His current research seeks to identify predictive biomarkers that emerge before changes appear on MRI, with the goal of determining which patients are most at risk for developing cerebral ALD.

In addition, Dr. Lund is investigating the mechanisms underlying transplant efficacy, with a particular emphasis on peroxisome transfer. He is also exploring innovative strategies to enhance brain engraftment following allogeneic BMT or gene therapy, a critical step in which infused cells must cross the blood-brain barrier to halt disease progression. His team is leading efforts to develop therapies that may improve this process and increase overall treatment effectiveness.

Dr. Lund is also pursuing non-transplant treatment approaches for cerebral ALD. This work focuses on therapies designed to reduce neuroinflammation and potentially diminish or eliminate gadolinium enhancement on MRI, offering the possibility of disease control without the need for transplant.

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Rebecca Tryon, MS, MA, CGC

Rebecca Tryon, MS, MA, CGC

The Grey Zone Project

University of Minnesota

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Resources

int(1)
ALD Connect Webinar: The Grey Zone

Dr. Stephan Kemp, Amsterdam University Medical Centers (email)
Dr. Troy Lund, University of Minnesota (email)

The Grey Zone: My Genetic Test Comes Back ‘Variant of Uncertain Significance’ – Now What?

Presented by Stephan Kemp, PhD

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Donate to The Grey Zone

The success of The Grey Zone project relies on the generosity of our community! Donations play a direct role in advancing this initiative, providing scientists with the resources needed to deepen their understanding of these variants. This, in turn, helps improve outcomes for those affected by ALD. By contributing, you are helping drive this project forward and bringing hope to many families facing these challenges.

The Grey Zone Merchandise

Shop The Grey Zone merchandise, including premium unisex t-shirts, pullover hoodies and crewneck sweatshirts.

Available in multiple colours and sizes from Small up to 5XL.