Dr. Penny Hogarth

NBIA researcher Dr. Penny Hogarth has been awarded startup funds to pursue a new area of NBIA study and to develop tests for gauging severity of the illness.

Her group received the awards from the Oregon Clinical & Translational Research Institute for developing projects that demonstrate exceptional clinical and translational promise. Translational research involves taking basic science discovery gained through laboratory experiments and “translating” that information into useful medical practices.

Hogarth’s NBIA Research Group at the Oregon Health & Science University will develop and test scales for rating the impact of NBIA on affected individuals to improve understanding of how NBIA symptoms progress.

The team also will investigate an intriguing connection between a newly discovered form of NBIA, Beta-propeller Protein-Associated Neurodegeneration (BPAN), and Rett syndrome, a neurodevelopmental disorder that affects girls almost exclusively. Those affected have normal early growth and development followed by a slowing of development, unusual hand movements, slowed brain and head growth, walking problems, seizures and intellectual disability.

To develop and test rating scales specific to NBIA, the group will use a set of tools recently developed by the NIH. These tools measure motor, sensory, cognitive and behavioral function. In other words, how people move, feel, think and behave. The tests are designed to be short and simple.

Using this system, individuals being studied and their families can access the online rating scales from the comfort of their homes.

For example, subjects could be asked “Are you able to go for a walk of at least 15 minutes?” The individual would then pick the answer that best describes his or her situation: without any difficulty, with a little difficulty, with some difficulty, with much difficulty or unable to do.

Having the ability to rate the natural progression of NBIA is critical to future NBIA-related clinical trials. This information will help researchers and physicians understand if therapeutics administered during a clinical trial are helping.

BPAN shares certain features with Rett syndrome, including seizures, loss of language skills, unusual hand movements and impaired sleep, as well as some genetic features. It is hypothesized that some individuals that meet the clinical criteria for Rett syndrome, but lack mutations in the Rett gene MECP2, will be found to carry mutations in the BPAN gene WDR45.

The NBIA Research Group at OHSU is working closely with the Rett syndrome community in the U.S. and Europe in hopes of identifying these individuals.