October 14, 2025, 2:30 am | Read time: 9 minutes
It’s an unfair notion that an abbreviation like NCL is associated with the ability to steal memories–slowly, piece by piece, and so far without a cure. This refers to the so-called Neuronal Ceroid Lipofuscinosis, a rare form of dementia that affects not the elderly, but children. The disease gradually takes away their speech, motor skills, vision, and ultimately their lives. Because NCL is so little known, diagnosis often takes a long time, leaving affected families facing enormous challenges. FITBOOK editor Julia Freiberger spoke with Dr. Frank Stehr about where the biggest hurdles in diagnosis and care lie–and how targeted research can still offer hope.
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“For a Future Without Childhood Dementia”–the NCL Foundation Fights for Cure and Awareness
Dr. rer. nat. Frank Stehr (53) studied biochemistry/molecular biology in Hamburg. He completed his doctoral thesis in Hamburg and Los Angeles in the field of molecular medicine. After overseeing the “Research” department of the NCL Foundation for ten years, he has been the managing director of the foundation since 2013.
FITBOOK: What exactly does the NCL Foundation do–and what are your focus areas in the field of childhood dementia?
Dr. Frank Stehr: “’For a Future Without Childhood Dementia’ is the mission of our foundation. Since its inception in 2002, it has been committed to national and international research funding to provide children affected by childhood dementia with prospects for previously unavailable therapy and treatment approaches. To this end, research projects are initiated, funded, and supported. Furthermore, the formation of a global NCL network is being advanced, and various training measures are conducted. The foundation also raises awareness among doctors and sensitizes the public to the disease.”
What Childhood Dementia Does to the Body
What happens in the body and brain of an affected child–what makes childhood dementia medically so unique?
“Childhood dementia forms (13 NCL subtypes are known so far) are hereditary metabolic disorders. The genetic defect causes unusual, fat-like substances to accumulate in the cells: The protein required for natural metabolism is defective in juvenile NCL (one of the most common NCL forms, ed. note). As a result, the function of the lysosome, the cell’s recycling center, is disrupted, preventing the cell from being cleansed of the toxins from daily energy production. These toxins accumulate, and the cell dies. Initially, the brain’s nerve cells are affected. Although a child’s brain is still developing, it gradually loses its functions. In the so-called CLN3 form, the disease begins in elementary school age with a rapid loss of vision–within two years, the children become completely blind. Over the years, epileptic seizures, dementia, loss of speech, and motor skills follow, until they usually die before their 30th birthday.”
Why So Many Children Remain Undiagnosed for Years
Why is childhood dementia often recognized late?
“Childhood dementia is one of the rare diseases. Many pediatricians may never see a single child with this diagnosis in their entire career. Awareness is correspondingly low. In juvenile NCL (CLN3), the disease begins in elementary school age with a loss of vision that progresses rapidly–at this point, the affected families are not yet aware of what is wrong with their child. For many families, a strenuous odyssey through doctors begins, as it usually takes several years and numerous doctor visits before the correct diagnosis is made. It is extremely important to diagnose the disease early so that symptom treatment can begin as soon as possible, parents can take advantage of human genetic counseling if they wish to have more children, and they can prepare for their child’s future need for care. On average, it takes two to four years after the first symptoms appear for parents to finally know what disease their child is really suffering from. The loss of further abilities follows in the coming years.”
What needs to improve in the diagnostic system?
“Regarding juvenile NCL, ophthalmologists need to be extensively informed about the rare disease, ideally during their studies. We offer various training measures and information services here, such as online training, professional articles, and conference lectures. It must also be ensured that in so-called panel diagnostics, where several genes are examined for changes simultaneously, the CLN3 gene is also considered.”
Gene Therapy, Drug Recycling, and Young Science
Which research projects or funding initiatives are you currently advancing?
“We are currently funding specific research projects to deepen the understanding of juvenile NCL (CLN3). We also support research that examines the similarities of NCL with other diseases such as Alzheimer’s, Parkinson’s, and other age-related dementias. For this purpose, we have awarded a research prize worth 100,000 euros. We also promote young scientists. We finance doctoral scholarships worldwide to sustainably support innovative research ideas in the field of NCL. In the future, we want to test the effects of already existing drugs in suitable test systems (‘Repositioning of drugs,’ ed. note). There are many approved drugs for other diseases. There may be candidates among them that could also be helpful in treating NCL. Initial promising results suggest this.”
And where do you see the greatest potential?
“We see great potential in gene therapy, as NCL is a monogenetic disease and thus the disease could be tackled at its root. Thanks to these comprehensive activities, we have significantly contributed to advancing NCL research and supporting the development of potential therapies.”
The BILD charity organization “Ein Herz für Kinder” supports the NCL Foundation in a pilot project at the University Medical Center Hamburg-Eppendorf (UKE), where a newborn screening for childhood dementia (subtype CLN2) is to be established. The earlier the disease is detected, the longer the onset of symptoms can be prevented. At UKE, a multidisciplinary team has specialized in treating the rare disease and is working intensively on developing therapies. “Ein Herz für Kinder” covers the costs for a mass spectrometry device needed for the pilot project with 300,000 newborns and for further research.
700 Children in Germany–Why Childhood Dementia Is Still a Topic for All of Us
How many children are currently affected in Germany–and what is the societal relevance of the topic from your perspective?
“In Germany, current estimates suggest that about 700 children are affected by childhood dementia NCL. Worldwide, there are approximately 70,000 cases. Each year, about 20 new cases are added in Germany. The societal relevance of this rare disease is greater than the numbers initially suggest. Childhood dementia presents enormous challenges for families, doctors, and the healthcare system–medically, psychologically, and financially. Moreover, NCL exemplifies why research on rare diseases is so important: It provides relevant impulses for medicine as a whole, as many insights into gene and cell functions also play a role in more common diseases like Alzheimer’s or Parkinson’s, and specific personalized therapies are being clinically tested for the first time. There is even a connection between juvenile NCL and the ‘normal’ aging process.”
A Life in a State of Emergency–When Families Fall Through Every Care Net
What do you see as the biggest gaps in care–specifically, where do families, schools, or institutions fall through the cracks?
“Precisely because it is a rare disease, there are no standardized structures. The affected families have to navigate a confusing network of doctors, therapists, health insurance companies, and authorities on their own. Additionally, the parents bear the main burden of care and support. Another point is school: It remains–as long as possible–an important place for children with NCL. But of course, classical inclusion quickly reaches its limits here because the children’s needs are constantly changing. In all these relevant topics, we always point to the NCL Group Germany e.V., a self-help group that provides affected families with comprehensive information about the disease and care options.”
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The Striking Image to Understand Childhood Dementia
When you explain to outsiders what childhood dementia means–is there an image or phrase that works particularly well?
“You have to imagine the cell like a soccer team, consisting of a variety of different proteins. The team of affected children always plays shorthanded. Due to the genetic defect, a very important protein (Cln3) is missing. Apparently, the cell manages to cope with being shorthanded in the first few years. But then the first goals against are scored, and symptoms, such as rapid vision deterioration, suddenly appear at school age. Gradually, the team of the affected child falls further and further behind.”
“The Most Moving Moment for Me Personally Was …”
Was there a moment in your work that particularly stuck with you–positive or negative?
“I have been working full-time for the NCL Foundation since 2003. There are many positive and moving moments. I am always impressed by the strength of affected families. It’s incredible how much they achieve for us–despite the high personal burden. And I am always pleased with the volunteer commitment, such as from our patron Jan Josef Liefers, our foundation’s founder Frank Husemann, or Jan Hähnlein, who initiated the HEROS charity march, to name a few examples. The most moving moment for me personally was when a grandmother told me the following. Her five-year-old grandson had asked her at the time if he could give his heart to his older (sick) sister. Would she feel better then? I would be very happy to achieve, together with you and your readers, that a five-year-old no longer has to ask such a question.”
The NCL Foundation was founded by Dr. Frank Husemann, whose son Tim was diagnosed with NCL at the age of six. As the father of a son affected by NCL (Neuronal Ceroid Lipofuscinosis), he could not and would not stand idly by as this disease took a little more of his child from him every day. He wanted to get involved–not only for his child but also for the other affected children and their families. Tim passed away in 2022 at the age of 27 from the consequences of his illness. Although Tim could no longer be helped, we are optimistic that in the near future, due to promising research results, new treatment options can increasingly be clinically tested. This would be another important step toward a future without childhood dementia.