ALD Connect Collaborative Research Network

Josh Bonkowsky is a professor of Pediatrics at the University of Utah School of Medicine and Primary Children’s Hospital, Chief of the Division of Pediatric Neurology, and Director of the Center for Personalized Medicine. Dr. Bonkowsky is a physician-scientist with interests in clinical and bench research. Since 2006, Dr. Bonkowsky has personally mentored more than 90 trainees; more than half of whom are women or under-represented minority trainees.

Main Area of Research: We focus on understanding the pathophysiology of ALD, using clinical, big data, and bench research approaches.

Dr. Florian Eichler is a co-founder of ALD Connect. He is a Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. His career has been dedicated to advancing the care and treatment for devastating neurogenetic conditions. Following neurogenetics training at Johns Hopkins with the late Dr. Hugo Moser and residency in pediatric neurology at MGH, he became the Director of the Leukodystrophy Service that cares for patients with an increasing variety of neurogenetic conditions. Dr. Eichler runs a laboratory at MGH that explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. In 2015, he became Director of the Center for Rare Neurological Diseases at MGH. The Center aims to eradicate rare disorders of the nervous system by leveraging the power of biological insights towards design and implementation of clinical trials. Dr. Eichler is the Principal Investigator of several NIH-funded studies on neurogenetic disorders as well as a gene therapy trial of adrenoleukodystrophy.

Main Area of Research: My laboratory studies the relationship of the ALD gene defect to lipid accumulation and immune responses and their contribution to neurodegeneration. A large focus lies in advancing new gene therapy trials for different phenotypes of ALD. This encompasses ex vivo lentiviral and in vivo AAV- based approaches. In collaboration with Boston Children's and other centers we were able to achieve a first FDA approved gene therapy for childhood cerebral ALD. For women with ALD we are working on natural history studies as well as new therapeutics aiming to reactivate the healthy X chromosome.

Dr. Ali Fatemi is a co-founder of ALD Connect. He is the Chief Medical Officer at Kennedy Krieger Institute, a pediatric neurologist and the director of the Division of Neurogenetics and the Moser Center for Leukodystrophies, an investigator at the Hugo W. Moser Research Institute at Kennedy Krieger Institute and holds the Blum-Moser Chair for Pediatric Neurology. Dr. Fatemi is also professor of neurology and pediatrics at Johns Hopkins University.

Main Area of Research: Our preclinical lab focuses on understanding the myelin pathobiology in ALD and the role of neuroinflammation (efforts led by Nadav Weinstock and Ann Moser), development of novel therapeutics (led by Dr. Christina Mertz) in mouse and in vitro models of ALD. The clinical research focuses on development and validation of various outcome measures including neuroimaging and omics based biomarkers. We are part of a strong collaborative multi center consortium led by CHOP, KKI and MGH Leukodystrophy teams.

Amena Smith Fine, MD PhD, is a physician scientist and Assistant Professor of Neurology and Developmental Medicine at the Kennedy Krieger Institute and the Johns Hopkins School of Medicine in Baltimore, MD. Dr. Fine’s clinical research program focuses on understanding the pathogenesis and natural history of leukodystrophies. As a board member of several patient advocacy groups, she facilitates international research collaborations and champions representation of the patient voice in clinical trial design. Her projects aim to identify clinically meaningful sensorimotor outcome measures and neuroimaging biomarkers in adrenoleukodystrophy and related leukodystrophies.

Main Area of Research: Leukodystrophies clinical research - natural history, clinical trials, outcome measures and study design, wearable technology and neuroimaging studies

I am a full professor at Amsterdam UMC, University of Amsterdam, specializing in ALD. As project leader, I led the development of a boys-only screening algorithm for ALD that has been implemented nationwide in the Dutch newborn screening program since October 2023. I founded the ABCD1 Variant Registry (www.adrenoleukodystrophy.info) and am actively involved with patient organizations and serve on medical and scientific boards in Europe and the United States, including ALD Connect. Our team collaborates with ALD physicians and researchers around the world to foster open communication. We specialize in translational research, which bridges basic science and clinical advances to advance the field of ALD.

Main Area of Research: Improve diagnostic tests and increase access to ALD diagnostic testing for the wider ALD community. Develop a prognostic test for risk stratification based on our lipidomics and genetics research projects. Monitor and evaluate ALD newborn screening results. Address the growing problem of variants of uncertain significance (VUS) in ABCD1 and develop methods to reclassify them to benign or pathogenic.

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.

Main Area of Research: Cell therapy, gene therapy, triggers of disease, biomarkers, variants of uncertain significance, peroxisome biology

Dr. Van Haren is a child neurologist and neuroimmunologist at Stanford University School of Medicine. He is the Director of the Pediatric Neuroimmunology and Leukodystrophy Clinic at Lucile Packard Children's Hospital.

Main Area of Research: The Van Haren Lab is primarily focused on developing new therapies to prevent or halt the cerebral demyelinating form of ALD. We study how and why some boys develop cerebral ALD while others do not. We also use cell and mouse models to study the biological mechanisms that drive the inflammation and injury that characterizes cerebral ALD.

Nicki F. Coveña has an academic background in psychobiology and molecular neuroscience, specializing in neurodegenerative diseases and developing expertise in cell culture models and molecular techniques. He is currently a PhD candidate at Amsterdam UMC, where he uses human induced pluripotent stem cell-derived models to study the complex role of microglia in ALD. Nicki's research aims to contribute to and advance the molecular understanding of ALD pathology.

Main Area of Research: My main area of ALD research is on utilizing induced-pluripotent stemcell models to study ALD pathology. With a specific focus on developing a iPSC-derived microglia in vitro model to study how microglia are affected in ALD and to study their role in the development of ALD pathology.

Courtney is a Neurobiology PhD student at the University of Utah in the laboratory of Dr. Josh Bonkowsky. Her commitment to leukodystrophy research is driven by unyielding curiosity and a strong desire to develop regenerative myelin therapies. As the parent of a child with leukodystrophy, she contributes to the rare disease space not only as a researcher, but also as a caregiver and advocate.

Main Area of Research: Effective treatment of adrenoleukodystrophy — and leukodystrophies in general — requires a mechanistic understanding of the lipid economy that underlies myelin development, maintenance, and regeneration. As such, my research focuses on defining additional roles of ABCD1 in cellular lipid homeostasis, particularly in lipid trafficking at membrane contact sites. Does ABCD1-associated dysfunction in these processes contribute to disease pathology, and can their investigation reveal novel therapeutic targets for adrenoleukodystrophy?

Marc Engelen is a neurologist with specific expertise in leukodystrophies and other genetic disorders.

Main Area of Research: Natural History and Clinimetry, Clinical Trials, Biomarkers (prognostic)

I am a member of pediatric stem cell transplant team at Masonic Cancer Center, with a focus on inherited metabolic disorders including adrenoleukodystrophy. I am also the principle investigator of Adrenoleukodystrophy National Registry and Biobank, which is housed at University of Minnesota.

Main Area of Research: Transplant based therapies for cerebral ALD

Dr. Yorrick Jaspers is a postdoctoral researcher at Amsterdam UMC whose work focuses on molecular and translational lipidomics. His research investigates how lipid metabolism reflects and shapes human health and disease, with the aim of identifying biomarkers and mechanisms that enable earlier diagnosis and more precise, personalized medicine.

Main Area of Research

Lipidomics, Metabolomics, translational research.

Reena Kartha is an Associate Professor and Associate Director of Translational Pharmacology at the Center for Orphan Drug Research, University of Minnesota. Her research focuses on rare inherited metabolic disorders, specifically investigating the role of oxidative stress and inflammation. Dr. Kartha is interested in identifying novel biomarkers and repurposing therapies that target these molecular pathways. Her research is supported by the National Institutes of Health, the pharmaceutical industry, and non-profit foundations. With a master's degree in biotechnology and a Ph.D. in Cellular and Molecular Biology from the Indian Institute of Science, Bangalore, Dr. Kartha is an esteemed member of professional organizations, including the American Society of Clinical Pharmacology and Therapeutics Rare Disease Community.

Main Area of Research: My lab is primarily interested in developing new therapies for ALD. We adopt translational and clinical pharmacology approaches to bridge the gap between basic science and clinical applications to drive innovation and accelerate drug development. Currently we are investigating nervonic acid, as a dietary therapy that will be beneficial for all individuals with an ABCD1 mutation. We are analyzing its mechanism of action and understanding its pharmacology using patient-derived cells, and animal models.

Medical school at Berlin Free University. Doctoral thesis on X-linked ALD. Head of Neurological Department, Hubertusburg Clinic , Wermsdorf. Head of Leukodystrophy Outpatient Clinic and Myelin Research Center, MRC (2017-2024) at University of Leipzig, Germany. Currently Senior Researcher at MRC Leipzig.

Main Area of Research: Pathobiology of ALD and other Leukodystrophies; Clinical trials in ALD and other Leukodystrophies. Hematopoetic stem cell treatment in ALD and other Leukodystrophies.

I am the Director of the Inherited, Metabolic and Storage Disease Transplantation Program at the University of Minnesota. Our group is a world-leading center for the treatment of these disorders by hematopoietic stem cell transplantation, including leukodystrophies, and in particular ALD. My training is in the field of Pediatrics, with subspecialty training in Hematology/Oncology and Blood and Marrow Transplantation. My clinical practice is now focused on the use of hematopoietic stem cell transplantation for non-malignant, inherited disorders, and how we might develop a better understanding the biology of these disorders.

I have extensive experience in the design and implementation of clinical trials for inherited leukodystrophies and I have actively worked to build a team of professionals in various disciplines to provide optimal care for these patients and their families. We are likely the largest center in the world in the treatment of adrenoleukodystrophy. I am also an investigator on the Adrenoleukodystrophy National Registry.

Main Area of Research: Our group maintains the ALD Registry (https://aldnr.umn.edu), and we have a large multidisciplinary clinic to monitor those with ALD, with a focus on boys picked up by newborn screening. We are also one of the largest centers in the world in the treatment of ALD with blood stem cell transplantation, and we have published extensively on these outcomes, biomarkers, neuropsychological issues, etc.

Rene Pierpont, PhD, LP is an Assistant Professor and pediatric neuropsychologist in the Department of Pediatrics at the University of Minnesota. In her clinical work, Dr. Pierpont conducts neuropsychological evaluations and consultations with children with complex medical conditions. Dr. Pierpont is presently a K23 scholar funded by the National Institute for Neurological Disorders and Stroke. Her research program evaluates the impact of neurological disease and clinical treatment on brain structure and function in children with rare genetic conditions. In addition to her research and clinical work, Dr. Pierpont is passionate about partnering with patient communities to develop better resources, guidelines, and avenues of care for children with rare diseases.

Main Area of Research: My academic focus is to identify biological, medical, cognitive, and environmental risk factors that contribute to variable disease presentation across patients with rare diseases, with the goal to enable timely and effective intervention. I am particularly interested in early markers of neurological and neurodevelopmental risk in ALD. I have expertise in the use of cognitive assessments, caregiver rating scales, and neuroimaging modalities (particularly diffusion tensor imaging) within observational studies and clinical trials.

Dr. Aurora Pujol earned her MD from the Autonomous University of Barcelona and her PhD from the University of Heidelberg and the German Cancer Research Center. She completed training in Human Genetics at the IGBMC in Strasbourg, where she focused on generating and characterizing mouse models for X-ALD, alongside her residency in Medical Genetics. In 2005, she became the Director of the Neurometabolic Diseases Laboratory at IDIBELL/ICREA. Dr. Pujol is also board-certified in Clinical Genomics by the American Board of Genetics and Genomics at the NIH, USA.
Her laboratory is a member of the Spanish Network of Rare Diseases (CIBERER) and the Undiagnosed Diseases International Network (UDNI) at the NIH. Dr. Pujol serves on the editorial boards of prestigious journals, including ELA-International, and is recognized as a leading expert in brain white matter diseases and genomic medicine.

Her primary research focuses on X-ALD, with the following key goals: i) Investigating the role of fatty acid accumulation in inducing oxidative stress and mitochondrial dysfunction;
ii) Applying a systems biology approach to integrate multi-omics data, identifying potential druggable pathways; iii) Translating these findings into preclinical models and clinical trials.

Main Area of Research: Translational research, multiomics, preclinical and clinical trials on repurposed drugs

Dr. Ream is a child neurologist specializing in leukodystrophies and other early onset neurogenetic disorders. She is actively involved in newborn screening policy and advocates for advancing the care of children and families impacted by complex neurogenetic and degenerative disorders. As residency program director she is also committed to training the next generation of child neurologists in compassionate, evidenced-based care.

Dr. Molly O. Regelmann is an Attending Physician and Associate Professor of Pediatrics in the Division of Pediatric Endocrinology and Diabetes at the Children’s Hospital at Montefiore Einstein, Albert Einstein College of Medicine. She earned her undergraduate degree from Cornell University and her medical degree from NYU School of Medicine, followed by residency and fellowship training at the Ichan School of Medicine at Mount Sinai. At the Children's Hospital at Montefiore Einstein, she specializes in adrenal insufficiency and rare adrenal disorders. Dr. Regelmann is an active member of the Pediatric Endocrine Society and has led the efforts to develop screening and care guidelines for boys with adrenoleukodystrophy. Her academic work includes multiple peer-reviewed publications and national presentations on the endocrine aspects of adrenoleukodystrophy.