{"id":24094,"date":"2026-07-09T10:15:23","date_gmt":"2026-07-09T08:15:23","guid":{"rendered":"https:\/\/elainternational.eu\/?post_type=news&p=24094"},"modified":"2026-07-09T11:32:18","modified_gmt":"2026-07-09T09:32:18","slug":"interview-with-stephan-kemp","status":"publish","type":"news","link":"https:\/\/elainternational.eu\/en\/actualites\/interview-with-stephan-kemp\/","title":{"rendered":"Stephan Kemp: a researcher committed to ELA"},"content":{"rendered":"\n\n
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Stephan Kemp: a researcher committed to ELA<\/b><\/h3>\n

How would you describe adrenoleukodystrophy (ALD) in a few words?<\/h4>\n

Adrenoleukodystrophy (ALD) is a devastating inherited disease that affects the brain and adrenal glands. Genetic mutations in the ALD gene cause toxic fatty acids to build up in the body. These acids destroy the myelin, which is the insulation around nerve cells in the brain and spinal cord, and they also destroy the cells of the adrenal glands that produce the stress hormone cortisol. In its most severe form, ALD causes a rapid neurological decline in boys and adult men who often seemed perfectly healthy just weeks before. Without early detection and timely treatment, ALD can be fatal or leave children profoundly disabled.<\/p>\n

You led the development of ALD newborn screening in the Netherlands. What was the main goal of this program? How does it benefit newborns in the Netherlands?<\/h4>\n

The main goal is simple: to identify boys with ALD before they develop symptoms so that treatment can begin in time. Brain ALD can be treated with a bone marrow transplant, but only if treatment begins before brain damage occurs. Through the Dutch ALD newborn screening program, which began in October 2023, we identify approximately four to six affected boys each year. This aligns with the expected prevalence of one in 15,000. These boys are referred to the Amsterdam Leukodystrophy Center, where they are under the care of Dr. Marc Engelen, the head of the Department of Pediatric Neurology. All boys enter a follow-up program to monitor brain function through regular MRIs and assess adrenal function.<\/p>\n

What are the main objectives of your current research on newborn screening?<\/h4>\n

Although newborn screening for ALD identifies boys at risk, not all of them will develop the severe brain form of the disease. By the age of 18, 40% of boys will have developed the brain form, and 50% will have developed adrenal disease. However, all boys undergo intensive follow-up, including brain MRIs and adrenal function testing every six months. This process is stressful and costly, and it may be unnecessary for a significant proportion of boys. Our research focuses on improving our ability to predict who will and who will not develop the disease, so we can tailor surveillance and avoid unnecessary interventions. We are also working to better understand what triggers disease onset, one of the field’s biggest unanswered questions.<\/p>\n

How does newborn screening contribute to the care and management of the disease?<\/h4>\n

Newborn screening transforms ALD from a disease discovered in a crisis, often too late for intervention, into a disease managed proactively. Rather than receiving a devastating diagnosis after a child has already lost neurological function, families are informed early on and their children enter structured follow-up programs. If the brain disease develops, we can intervene immediately with a bone marrow transplant, which is very effective at this stage. If the adrenal glands are affected, hormone replacement therapy is available.<\/p>\n

ELA is a partner in your research. How important is this partnership for your work?<\/h4>\n

For over 20 years, ELA has been a vital partner in our research. Honestly, our research group likely would not exist in its current form without ELA’s support. We have received multiple grants through ELA’s highly competitive grant rounds, which are essential for leukodystrophy research in general, not just ALD. ELA’s funding has been foundational, not supplementary. Beyond financial support, ELA connects researchers, clinicians, and families, keeping the science grounded in what matters most – the patients and their families living with this disease every day.<\/p>\n

Families are waiting for breakthrough treatment for ALD. How optimistic are you today?<\/h4>\n

I am genuinely optimistic. We are making real progress on multiple fronts. In the short term, I am confident that advances in our understanding of ALD’s biochemistry and natural history – including insights from long-term cohort studies, such as our own – will lead to better tools for predicting which boys are at risk of developing brain disease or adrenal insufficiency and which are not. This is crucial because currently, all boys in the newborn screening program undergo the same intensive follow-up regardless of their individual risk.<\/p>\n

We are also developing better methods to measure disease progression – tools that are essential for efficiently testing potential treatments in shorter timeframes with greater statistical power. Importantly, pharmaceutical companies are showing real interest in ALD and collaborating with expert centers worldwide. This is a significant shift. For the first time, I feel that meaningful treatments for ALD patients are within reach.<\/p>\n

You are a member of ELA scientific committee, why did you choose to become involved with ELA? What does this engagement mean to you?<\/h4>\n

I joined the ELA Scientific Committee because I am grateful for all that ELA does for the leukodystrophy community, and I see this as an opportunity to give back by sharing my scientific expertise. I believe that people who fund research should have rigorous, independent scientific oversight of how their money is spent. It is a responsibility that I take seriously. The Scientific Committee is a dedicated group of preclinical and clinical experts who cover all aspects, from basic research to clinical trials. When a committee member has a potential conflict of interest\u2014for example, if their institution has submitted a grant\u2014they leave the room and are not informed of the outcome. This ensures a fair and independent process. My engagement with the scientific committee allows me to contribute not just as a researcher, but also as someone committed to ensuring that ELA’s resources reach the best possible science.<\/p>\n\n <\/div>\n<\/div>\n\n\n\n\n

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