Grant: Op. Grant :Bringing Rare Disease Gene Therapies to Clinical Trial Readiness- LOI

Creatine (Cr) is an important in cellular metabolism supporting the body's energy requirements particularly in high energy organs such as the heart, muscles and brain. Cr helps in energy regeneration. Cr deficiency can arise due to the absence of, or to mutations in the gene (SLC6A8) that encodes Creatine Transporter. This disease, which is known as CT-D, presents with Intellectual disability (ID)/Developmental Delay spectrum due to reduced Cr levels in the brain. There is a desperate unmet need to find a treatment strategy for CT-D as no treatments are currently available. The objective of the proposed project is to test strategies to increase Cr in the brain and the periphery via a viral vector method which will deliver SLC6A8 to these sites. Preliminary data using this vector to treat deficient cells and mice shows increased Cr production in the brain. We plan on expanding on these studies; in particular, we plan on identifying a target dose for testing in clinical trial and perform the safety studies.