Neuronal ceroid lipofuscinoses (NCL) comprise a genetically heterogeneous group of fatal neurodegenerative lysosomal storage disorders characterized by the accumulation of autofluorescent storage material, cognitive deficits, seizures, brain atrophy, vision loss through retinopathy, and premature death. While NCLs are regarded to be incurable, a variety of treatment strategies have been developed in animal models, and some of them are with a promising therapeutic outcome. To overcome Batten disease, Creative Biolabs has established a comprehensive platform with advanced technologies and professional experts to provide global researchers with high-quality drug development services.
Batten disease or NCL is the collective name for a group of fatal autosomal recessively inherited storage disorders. Each of these progressive neurodegenerative disorders is caused by a mutation in a different gene, most of which have now been identified. These genes code for either soluble lysosomal enzymes or putative transmembrane proteins whose normal function remains unclear. Although most forms of NCL affect children, these disorders may begin at any time ranging from shortly after birth to early adulthood. This largely depends upon which individual gene is mutated and the precise mutation that is present, although as in other lysosomal diseases, other genetic and environmental factors may influence the precise presentation and disease course.
As the NCLs are inherited metabolic disorders, any pharmacological approach to therapy will have to be closely related to the underlying metabolic defect. Specific pharmacological treatments will therefore only be useful for a specific genetic NCL form or to groups of disorders sharing certain metabolic pathways. At present, there is only one clinically approved drug that is effective for the treatment of one specific NCL form, CLN2 disease.
Fig.1 Enzyme replacement therapy strategies in Batten disease. (Johnson, 2019)
Stem cell therapy for the treatment of NCLs caused by dysfunctional lysosomal enzymes is based on the rationale that grafted human neural stem cells from a healthy donor will differentiate into neurons and glia in the recipient patient’s brain where they express and secrete functional lysosomal enzymes, which can be internalized via mannose 6-phosphate receptors by neighboring mutant neural cells. Transplantation of genetically non-modified human CNS stem cells into the brain of a CLN1 mouse model resulted in the expression of PPT1 in the brain, a reduction in autofluorescent storage material, reduced loss of hippocampal and cortical neurons, and improved locomotor activities when compared with non-treated mice.
Focusing on antibody development and cell therapy strategies for years, Creative Biolabs has accumulated extensive experience from hundreds of successful precedents. With the latest technologies, experienced technicians, and experts with advanced degrees, our platform is capable of satisfying global clients’ detailed requirements. We are capable of providing high-quality services including but not limited to:
Overcoming Batten disease still needs more effort from researchers. With multiple advantages such as technologies, specialists, experience, and experiment conditions, Creative Biolabs is eager to provide more and more help for researchers to accelerate the development of therapeutic strategies for Batten disease. If you have any requirements for antibody development or cell therapy, please feel free to contact us for more information.
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