Pathway to a Cure in ALD
Advancing research from basic biology to prevention and treatment
Advancing research from basic biology to prevention and treatment
Pathway to a Cure is our patient-prioritized research agenda for accelerating progress toward better treatments and, ultimately, a cure for ALD. Our objective is to ensure that research priorities reflect the experiences of patients and families affected by ALD while advancing the most promising science. This framework creates a living inventory of ALD research and related initiatives across the global community. By mapping ongoing work, identifying areas of overlap, and highlighting critical gaps, we will better understand where additional investment, collaboration, and innovation can have the greatest impact.
This effort is intended to support patients, families, researchers, clinicians, industry, advocacy organizations, funders, and supporters by creating a clearer picture of the current ALD research landscape.
In addition to guiding scientific priorities, this framework is designed to support strategic fundraising and resource allocation by helping identify the areas of greatest opportunity, urgency, and unmet need.
A shared direction and clear destination will help us navigate each turn, build bridges, open new routes, connect promising ideas, and continue moving toward a cure, even when the journey includes unexpected detours or important stops along the way.
Ultimately, the goal is not only to catalog what is being done, but also to help align our community, reduce duplication, and create a more collaborative approach to advancing therapies and improving outcomes for individuals and families affected by ALD.
A cure for ALD will not come from a single discovery alone. Progress will depend on many people bringing their expertise, perspectives, and commitment to this shared effort. Everyone in our community has an important role to play and something valuable to contribute.
The pathway spans the full research continuum. Explore each stage to see the key questions that must be addressed to stop progression, restore function, and end suffering.
Understand the fundamental disease.
Determine what starts cerebral disease.
Decode why ALD is unpredictable.
Detect disease before it is clinically visible.
Move from detection to foresight.
Identify what to intervene on.
Create interventions based on biology.
Make therapies safer and more precise.
Go beyond halting disease.
Eliminate disease before it begins.
Eda Kabak
Amsterdam University Medical Center | PI: Marc Engelen
Grant: $6,600
From Radiology to Pathology: In Search of the Pathological Correlation of qMRI Abnormalities in X-ALD
Uses electron microscopy to examine donated brain tissue and connect early cellular and myelin damage with abnormalities detected through quantitative MRI.
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Chelsey Reed
Johns Hopkins University | PI: Charlotte Sumner
Grant: $6,600
Translational Insights from the Abcd1 Mouse
Studies spinal cord and peripheral nerve damage in female and male Abcd1 knockout mice to improve preclinical models of AMN and identify factors influencing disease severity.
Nicki F. Coveña
Amsterdam University Medical Center | PI: Stephan Kemp
Grant: $6,600
Investigating the Effect of ALD Microglia on Neural Network Maintenance and Function Using Multi-Electrode Arrays
Uses patient-derived stem cells to study how ALD-affected microglia influence the maintenance, communication, and function of brain-cell networks.
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Maria L.G.A. Seixas
Massachusetts General Hospital and Harvard Medical School | PI: Patricia Musolino
Grant: $6,600
Studying Microvascular Dysfunction in Plasma and MRI as Biomarkers of Early Cerebral Adrenoleukodystrophy and Response to Treatments
Examines blood-based biomarkers and MRI measures of vascular dysfunction to improve early detection of cerebral ALD and monitor treatment response.
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Andrea Villoria-González
Medical University of Vienna | PI: Isabelle Weinhofer
Grant: $6,600
Generating Isogenic ABCD1-Edited Induced Pluripotent Stem Cells to Model Neuroinflammation in X-ALD
Creates genetically matched human stem-cell models to determine how ABCD1 dysfunction affects different brain-cell types and their inflammatory responses.
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Nadav Weinstock
Kennedy Krieger Institute and Johns Hopkins School of Medicine | PI: Ali Fatemi
Grant: $6,600
Myelin Catabolism in Adrenoleukodystrophy
Studies how ALD-related myelin lipids are processed by immune cells and how this process may contribute to inflammation and demyelination.
Manouchehr Amanat
Kennedy Krieger Institute and Johns Hopkins Medical Institute
Grant: $6,600
Antisense Oligonucleotide Therapy in X-Linked Adrenoleukodystrophy
Tests antisense oligonucleotides designed to increase ABCD2 expression and compensate for deficient ABCD1 function in patient-derived cells.
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Yorrick R.J. Jaspers
Amsterdam University Medical Center
Grant: $6,600
Lipidomic Fingerprinting of X-Linked Adrenoleukodystrophy Bloodspots
Uses lipidomic analysis of dried bloodspots to distinguish ALD biochemical profiles and help determine whether uncertain ABCD1 variants cause disease.
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Courtney Demmitt-Rice
University of Utah
Grant: $6,600
Transcriptomic and Lipidomic Signatures in ALD
Examines changes in gene expression and lipid metabolism caused by ABCD1 mutations and uses those findings to evaluate a potential therapy identified through zebrafish screening.
Chenxu Li
University of Minnesota
Grant: $6,600
Nervonic Acid: A Potential Therapeutic Targeting Mitochondrial Dysfunction and Cellular Oxidative Stress
Investigates whether nervonic acid can reduce oxidative stress, improve mitochondrial function, and slow ALD disease processes in patient-derived cells.
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April Rickle
Van Andel Institute Graduate School
Grant: $6,600
Testing the Impact of the Drug Leriglitazone in a Fruit Fly Model of ALD
Evaluates how leriglitazone affects movement, behavior, brain degeneration, metabolism, and gene expression in an ALD fruit-fly model.
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Hemmo Yska
Amsterdam University Medical Center
Grant: $6,600
Attitudes of Patients Toward Sex-Specific ALD Newborn Screening
Surveys people with ALD and their relatives to understand whether newborn screening should include boys only, both boys and girls, or neither.
Whether you’re looking to contribute to research, attend a learning event, or connect with others in the community, ALD Connect offers a variety of ways to get involved. Discover opportunities that resonate with you, and join us in our mission to support those affected by ALD.
