Learning about adrenoleukodystrophy (ALD) often means learning a new set of names: doctors, researchers, laboratories and hospitals. Understanding what each person does can make it easier to find relevant information and ask the right questions.
This guide introduces ten clinicians and researchers whose work spans ALD care, genetics, disease biology and treatment research. It is a starting point, not a complete list or a ranking. Many other professionals contribute to this work, including genetic counselors, nurses, therapists, study coordinators and laboratory teams.
The sections below organize people by one area of their work. Several contribute across more than one area.
ALD clinical care and follow-up
Molly O. Regelmann, MD — pediatric endocrinology
Molly Regelmann is a pediatric endocrinologist at Children’s Hospital at Montefiore Einstein. ALD is among the conditions listed in her clinical focus. Her published work includes endocrine monitoring and management in ALD, addressing hormone-related care such as adrenal insufficiency. This is a different part of care from evaluating changes in the brain or spinal cord. Montefiore clinical profile · Endocrine management review
For families exploring endocrine care, useful questions include how the practice coordinates with neurology and who explains test results and the individual care plan.
Read the Molly O. Regelmann profile
Eric Mallack, MD, MBE — MRI monitoring and newborn-screening follow-up
Eric Mallack directs clinical research at Kennedy Krieger Institute’s Moser Center for Leukodystrophies and is on the Johns Hopkins neurology faculty. His work includes early cerebral ALD, MRI research and follow-up after newborn screening. He was the first author of a 2021 publication on MRI surveillance for boys identified through ALD newborn screening. Kennedy Krieger profile · MRI surveillance publication
This work addresses how clinicians monitor for brain changes and how researchers measure them. The treating team should interpret each child’s scans and plan follow-up.
Ali Fatemi, MD — leukodystrophy care and research
Ali Fatemi is a pediatric neurologist and director of the Moser Center for Leukodystrophies at Kennedy Krieger Institute. The center’s teams conduct clinical and laboratory research on ALD and other disorders affecting the brain’s white matter. Kennedy Krieger profile
A center studying several leukodystrophies brings together different kinds of expertise. When contacting it, specify whether the question concerns an ALD evaluation, an existing care plan or a research study. A project involving another leukodystrophy should not be assumed to apply to ALD.
Genetics and understanding ALD
Gerald Raymond, MD — medical genetics and neurology
Gerald Raymond is a clinical geneticist and neurologist at Johns Hopkins. His research includes peroxisomal disorders such as ALD, and his work has included newborn screening and the development of clinical follow-up programs. Johns Hopkins physician profile
His combination of genetics and neurology is relevant to questions about inherited conditions and their clinical effects. Families can ask a genetics service how a consultation will address their test results, family history and questions about testing relatives.
Read the Gerald Raymond profile
Stephan Kemp, PhD — ALD biology and newborn screening
Stephan Kemp, PhD, is an ALD researcher at Amsterdam UMC. His specialization is biochemistry, and his work investigates ALD mechanisms and differences in how the condition develops. He also contributed to the work behind ALD newborn screening in the Netherlands. Amsterdam UMC researcher profile
Kemp is a scientist, rather than a physician offering clinical appointments. His work illustrates how laboratory research and clinical teams can inform one another. Research on a genetic variant or biochemical marker may help answer scientific questions without providing a reliable forecast for a particular child.
Laboratory research and disease biology
Keith Van Haren, MD — metabolism and childhood brain health
Keith Van Haren is a child neurologist at Stanford whose research examines metabolism, inflammation and neurological injury. ALD is one of his clinical and research areas. His laboratory combines clinical investigations, imaging and laboratory approaches to study these connections. Stanford faculty profile · Van Haren Lab
This work asks what makes the developing brain vulnerable and what might help protect it. Research into possible preventive strategies should not be interpreted as proof that a supplement or other intervention prevents cerebral ALD.
Read the Keith Van Haren profile
Joshua Bonkowsky, MD, PhD — experimental models of neurological disease
Joshua Bonkowsky’s laboratory at the University of Utah studies neurological development and leukodystrophies. In a 2017 study, Bonkowsky and colleagues described a zebrafish model of ALD that reproduced several disease features and examined the role of the abcd1 gene in myelin development. University of Utah lab · 2017 zebrafish study
Experimental models let researchers investigate biological processes in detail. They are tools for developing and testing ideas; a result in fish or other animals does not establish that an intervention is safe or effective in people.
Read the Joshua Bonkowsky profile
Clinical studies and treatment research
Marc Engelen, MD, PhD — disease progression and trial measurements
Marc Engelen is a neurologist at Amsterdam UMC whose work includes children and adults with neurometabolic disorders. His ALD research includes natural-history studies, which follow how a condition changes over time, and the development of measurements that can support clinical trials. Amsterdam UMC profile · Amsterdam Leukodystrophy Center conference biography
These measurements help researchers assess changes and evaluate potential treatments. A change in an imaging or laboratory measure is not automatically evidence that someone feels or functions better. Understanding the relationship between those measures and daily life is part of evaluating research.
Florian Eichler, MD — disease mechanisms and potential therapies
Florian Eichler directs the Leukodystrophy Service at Massachusetts General Hospital. His laboratory studies inherited disorders involving lipid metabolism and the nervous system, including ALD. Its work connects biological mechanisms with the development of potential therapies. Mass General profile · Eichler Lab
For families reading treatment research, the important distinctions are what was studied, whether the work involved people, what benefits and harms were measured, and which patients the findings concern. A laboratory’s research program does not by itself establish that a treatment is available or appropriate for a particular person.
Read the Florian Eichler profile
Troy Lund, MD, PhD — transplantation and ALD research
Troy Lund is a physician-scientist in pediatric blood and marrow transplantation and cellular therapy at the University of Minnesota. His research includes ALD disease mechanisms, the onset of disease, biomarkers and transplantation. University of Minnesota faculty profile
His work sits at the intersection of clinical care and research. Transplantation is not a treatment for every manifestation of ALD, and an ALD diagnosis alone does not establish that someone should receive it. Decisions about treatment require assessment by the appropriate specialist team. International ALD recommendations
How to contact an ALD team
Start by identifying the purpose of the inquiry. Clinical care, research participation and fundraising may be handled by different offices within the same institution.
For an appointment or second opinion, use the institution’s official clinical contact route. Ask about referral requirements, age groups served, records, insurance and availability. A published research email address is not necessarily an appointment-booking address.
For a study inquiry, ask the research team about the study’s purpose, current status, eligibility and what participation involves. An older publication does not establish that a study is still recruiting. Ask how research activities differ from routine clinical care and how to send any requested records securely.
How to support ALD research
Institutional foundations and research programs can explain whether a donation can be directed to ALD, a particular laboratory or a specific project. Before giving, ask which fund will receive the donation and what it supports. A general hospital donation should not be assumed to reach a named researcher.
The official institutional pages linked above are starting points for learning about each team. Confirm current contact and giving instructions directly with the institution.
Finding the right next step
Families do not need to become experts in every laboratory or research program. The practical starting point is the question they need help answering: understanding a result, arranging follow-up, exploring a study or supporting research.
These ten introductions show some of the different kinds of work taking place across the ALD community. A family’s existing care team can help identify which clinical expertise is relevant to their circumstances.