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Nicholas Research Fund

Bedford, New Hampshire

Cause Description:
Our primary mission is to raise funds and create partnerships in order to promote awareness, provide education and develop translational research regarding Batten Disease. Also, funds may be used to support families caring for children and young adults afflicted with this progressive neurodegenerative disorder. Batten disease also called Neuronal Ceroid Lipofuscinosis (NCL), is a brutal and debilitating disease that attacks all functions of the body. Children diagnosed with this disease are missing a gene that is responsible for eliminating the build up of intracellular waste in the brain and central nervous system. Over time the buildup of lipofucins causes these affected cells to die. The death of these cells is devastating to the brain and body’s function as it causes seizures, blindness, dementia, immobility, and death in all affected children. The cruelest aspect is that these children were born with all of these functions intact and experience a rapid loss of function after a period of normal childhood development. Most children will die between the ages of 8 and 12 in the Late Infantile form. Batten disease is a potentially very curable disease if given enough support for research. A new drug (AAVhr10-CLN2) is ready and waiting to move forward to clinical trials. All pre-clinical data and toxicology data has been completed. The FDA has given preliminary support of the trial and now funding is the only thing stopping the treatment of children. Cornell has submitted a grant for NIH funding but this has recently been declined. Private funding or NIH fund would enable Cornell to move forward with this tremendously promising drug.

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