Few therapies, a lot of research

Neuronal ceroid lipofuscinosis (NCL), also known as battens disease or paediatric dementia, are a group of liposomal storage disorders in which the neurons accumulate ceroid lipofuscin. This results in vision loss, dementia, epilepsy, mental decline and other symptoms. There are 13 different forms of NCL, which are distinguished by the defective gene, the age of onset, the order of symptom onset, and the progression of the disease.

Due to the rarity of the disease and the diversity of symptoms, misdiagnosis is common and it can take years before the correct diagnosis is made. The most reliable method of diagnosis is a genetic test that identifies the specific underlying mutation. Enzyme activity tests and skin or tissue samples can also help to identify the disease, as certain enzymes are missing or deficient in NCL and the resulting accumulation of lipofuscin can be detected microscopically.

Although there is currently no cure for NCL, treatment approaches aim to alleviate the symptoms and slow the progression of the disease. Enzyme replacement therapy has been approved in Germany for the special form NCL 2, all other forms of NCL have so far only been treated symptomatically. Looking at the pipeline for the forms NCL 2, NCL 3 and NCL 7, there are mainly cell and gene therapies as well as substrate reduction therapies using repurposed drugs that are being tested in phase I and phase II studies. In addition, various other therapies and therapeutic approaches are in preclinical development.

As a strategy consultancy in the healthcare sector, SKC is committed to ensuring that new drugs for rare diseases are granted access to the German market and thus significantly improve the care of affected patients. As part of Dementia Awareness Week, we want to highlight this rare and severe form of childhood dementia to raise awareness for the disease. Prof. Matthias P. Schönermark M.D., Ph.D. discussed the rare disease neuronal ceroid lipofuscinosis (NCL) in the recent episode of SKC's podcast series "The Profcast - rare diseases and their therapies" with Dr. Frank Stehr, chairman of the NCL Foundation.

You can listen to this episode here:

Sources:

• NCL Stiftung
• Batten Disease Foundation
• Orphanet: Ceroid-Lipofuszinose, neuronale