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More visibility for juvenile dementia

March 15, 2022

intermedix supports the NCL Foundation with education and awareness campaigns

It often takes years before a rare disease is diagnosed. Those affected sometimes experience a nerve-racking medical odyssey on the path to the correct diagnosis. This scenario is made all the more tragic when an incurable (often also relatively under-researched) disease with low life expectancy is finally diagnosed. Early diagnosis is particularly crucial for rare diseases with a fatal outcome. Together with the NCL Foundation, intermedix is committed to increasing knowledge and awareness of juvenile dementia (neuronal ceroid lipofuscinosis, NCL), thereby enabling doctors and those affected to diagnose the disease at an early stage.

Education and training

Juvenile dementia, or NCL, is a metabolic disease that has barely been researched to date. It is incurable, progresses inexorably, and leads to an early death. After the appearance of the first symptoms such as visual impairment and mental deterioration around the age a child starts school, it takes an average of two to four years until the parents are certain which disease their child is suffering from. Precious time that could otherwise have been spent on comprehensive palliative and psychological care. This makes it even more important for ophthalmologists and paediatricians to receive reliable and ongoing education.  

For this reason, intermedix has worked with the NCL Foundation to develop various educational and awareness measures in CompuGroup Medical SE's software systems. These notices are displayed whenever certain information or diagnoses are entered in a patient's file by the ophthalmologist or paediatrician. The doctor can then access further information on diagnostics and continuing medical education (CME) with just one click. The aim is to provide ophthalmologists and paediatricians with information at a critical moment in order to reduce the rate of misdiagnosis.  

intermedix is helping us achieve our goal of shortening NCL’s diagnosis time. 

Dr Frank Stehr, CEO of the NCL Foundation 

“We are very pleased about our new partnership with intermedix. With these software products designed specifically for paediatricians and ophthalmologists, it is helping us achieve the all-important goal of shortening diagnosis times for NCL,” explained Dr Frank Stehr, CEO of the NCL Foundation.  

“The issue of rare diseases is very close to our hearts. We see in our many rare disease projects how important education and communication is at a pivotal moment. The more complex or non-specific the symptoms, the more essential it is to have an accurate reminder function. This is the only way we can help doctors and hence patients too,” added Corina Neuse, Vice President Sales at intermedix Deutschland GmbH.  

 

Information about juvenile dementia, or NCL

Neuronal ceroid lipofuscinoses (NCL) are the most common genetically caused neurodegenerative diseases affecting children and adolescents. They are classed as rare diseases, with some 20 children affected every year in Germany. NCLs are what are known as ‘lysosomal storage diseases’: in NCL patients there is a pathological deposition of waxy lipofuscin in the body's cells, resulting in the massive death of nerve cells. NCL is also referred to as ‘juvenile dementia’ because the symptoms in affected children include progressive mental deterioration, along with the onset of epilepsy and loss of vision and movement control. Hardly any of the children reach the age of 30.  

More about NCL

 

About the NCL Foundation

Since its foundation in 2002, the Hamburg-based non-profit NCL Foundation has been committed to funding national and international research in order to give children affected by NCL the prospect of therapeutic and curative approaches that have not been available to date. This involves initiating, funding and supporting research projects and promoting the formation of a worldwide NCL network. The Foundation also works to educate doctors and raise public awareness of the disease.  

More about the NCL Foundation

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