The Oregon Clinical & Translational Research Institute (OCTRI) awarded start-up funds to NBIA investigator Dr. Penelope Hogarth for developing a project that demonstrated exceptional clinical and translational promise. The project focuses on a new NBIA disorder called Beta-propeller Protein-Associated Neurodegeneration, or BPAN. Individuals with BPAN have developmental delay and seizures in childhood. During adolescence or early adulthood, they deteriorate neurologically and start to develop parkinsonism, dementia, and abnormal brain iron accumulation.
In 2012, our NBIA research team and collaborators discovered that mutations in the WDR45 gene cause BPAN. Dr. Hogarth is working to expand our cohort of subjects with this rare diagnosis and collect additional clinical and natural history information. Since we have identified that many individuals with BPAN have features of Rett syndrome, the project will include investigation of this population as well. While mutations in the MECP2, CDKL5, and FOXG1 genes account for most cases of Rett syndrome, some individuals test negative for all these genes. In this project, Dr. Hogarth will explore what portion of mutation-negative individuals with a clinical diagnosis of Rett syndrome have mutations in the BPAN gene, WDR45.
As part of this project, Dr. Hogarth will also begin testing a new set of tools developed by the NIH in the hopes of improving our understanding of how NBIA symptoms progress. The tests measure motor, sensory, cognitive, and behavioral function. They are designed to be short and simple. Having the ability to rate the natural progression of NBIA is critical to future clinical trials.
If you have a patient with idiopathic Rett syndrome or features of Rett syndrome who may qualify for this BPAN study, please contact us for more information at info@NBIAcure.org