– A network for coordinated research and development of clinical biomarkers, diagnostics, pathomechanisms and
therapeutic strategies for neuronal ceroid lipofuscinoses –
NCL2TREAT wants to enhance the understanding of the biogenesis and role of lysosomes in cellular homeostasis, identify and characterise novel lysosomal components, generate cell and mouse models of lysosomal diseases, in order to develop novel therapies and acquire clinical data for natural history descriptions for neuronal ceroid lipofuscinoses (NCLs). NCL2TREAT is built on projects investigating disease mechanisms, genetic modifiers and experimental therapies. The NCL clinic as part of the International Center for Lysosomal Diseases (ICLD) in Hamburg provides a strong basis for the clinical part of NCL2TREAT. The comprehensive documentation of the natural history for CLN2 and CLN3 was the basis of the worldwide first phase 1/2 study for intraventricular enzyme replacement therapy in CLN2 disease in Hamburg. The new and upcoming NCL therapies require refined clinical scoring systems and novel clinical biomarkers which might also be applicable for experimental therapeutic approaches performed by the NCL2TREAT consortium. The efficiency of therapies for progressive neurodegenerative disorders, however, depends on early-onset treatments and diagnosis. Therefore, the development of novel highly-sensitive mass spectrometric-based multiplex and bioaffinity technologies plays a central role in NCL2TREAT both for diagnosis and monitoring therapeutic responses in NCL patients.
NCL2TREAT is embedded in the research network RESEARCH FOR RARE – German Networks on Rare Diseases and funded by the Federal Ministry of Education and Research. Funding started in February 2016.
Participating institutions of the NCL2TREAT consortium: