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Funding News - CNS Therapy Development for Lysosomal Storage Disorders Sought

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  • The information on this page is for historical and research purposes only.
  • For the most current NINDS funding announcements, please see the NINDS list of Active Funding Initiatives or Follow Us on Twitter for the latest funding news.

The National Institute of Neurological Disorders and Stroke (NINDS) and the Office of Rare Disorders (ORD) invite grant applications for central nervous system (CNS) therapy development for lysosomal storage disorders.*

Lysosomal storage disorders include about 50 metabolic diseases that collectively affect approximately 1 in 5000 live births. Each of these diseases has heterogeneous pathophysiology and clinical manifestations resulting from deficient activity of specific hydrolases. In some cases, the genetic defect can be in an activator protein for a lysosomal hydrolase or a transporter protein for the metabolites. All of these deficiencies lead to a characteristic pathological accumulation and storage of the substrate for that enzyme in the lysosomes. The consequent accumulation of undigested metabolites in lysosomes leads to multi-systemic dysfunction, including progressive neurologic deterioration, mental retardation, organomegaly, blindness, and early death.

Examples of research topics include, but are not limited to: novel delivery methods for drugs, cells, enzymes, and genes across around the blood-brain barrier (BBB); new types of therapy, including substrate reduction therapy; RNAi-mediated therapy of downstream targets; identification of therapeutic windows of opportunity by characterizing pathophysiological processes; use of non-invasive measures of organ function to identify, characterize, and validate diagnostic biomarkers, intermediate surrogate endpoints, and prognostic biomarkers; estimation of the magnitude of treatment effects based on validated biomarkers that reflect underlying pathogenesis; and development and validation of clinical tools, such as a rating scale or predictor of clinical outcome.

For more information, potential applicants should contact Dr. Danilo Tagle, Program Director, Neurogenetics Group, NINDS, Neuroscience Center, 6001 Executive Boulevard, Room 2133, Bethesda, MD 20892; telephone: 301-496-5745; fax: 301-402-1501; e-mail:

*For a more detailed description of this announcement, please visit the NIH web site at: