DEM-CHILD – a treatment-oriented research project of NCL disorders as a major cause of dementia in childhood

Aims: The European DEM-CHILD project focuses on the main cause for childhood dementia in Europe, the neuronal ceroid lipofuscinoses (NCLs). The NCLs are neurodegenerative diseases characterized by dementia, blindness, epilepsy, and physical decline leading to an early death of patients. No cure is currently available for any of the NCLs.

To date, 13 NCL genes have been characterized. There is evidence suggesting that further gene loci remain to be identified. NCLs are under-diagnosed in many countries around the world as there is an overall lack of research, early diagnosis, treatment, and expert availability. Furthermore, due to their broad genetic heterogeneity, it is difficult to collect large numbers of genetically similar patients. As such, large therapeutic studies required for advances in treatment are difficult to initiate.

Methods: The DEM-CHILD project will combine the expertise of (1) recognized European research teams with (2) high-technology SMEs, and will (3) collaborate with Indian experts on the following objectives:

Results: (1) Development of innovative cost- and time-effective testing and screening methods for all NCLs to ensure early diagnosis and thereby prevention; (2) collection of the world's largest, clinically and genetically best characterized set of NCL patients to study disease prevalence and precisely describe the natural history of the NCLs leading to the development of an evaluation tool for experimental therapy studies; (3) identification of novel biomarkers and modifiers of NCL to support the development of innovative therapies; (4) development of therapies for NCL diseases caused by mutations in intracellular transmembrane proteins by using two complementary therapeutic strategies and comparing them in eye and brain of mouse models: (a) viral-mediated gene transfer and (b) neural stem cell-mediated delivery of neuroprotective factors.

Conclusion: The DEM-CHILD project has received funding (3 Mio. Euro for 3 years) from the European Union Seventh Framework Program (FP7/2007 – 2013) under grant agreement no. 281234.