Research Projects

Members of the Foundation are actively forging partnerships with academic institutions, biotechnology and pharmaceutical companies to accelerate the development of treatments. Below are three research initiatives we’ve identified taking place in the United States and England. We will regularly update this section with the most up-to-date information as possible as we continue to work hand in hand with the scientific community.

Current Research Projects

PLANREADY

Dr Susan Hayflick and NBIAcure team

The NBIA Research Group at OHSU has developed a new study called PLANready. The purpose of this study is to help us better understand the natural history of PLAN aka INAD, meaning how symptoms appear and change over time. By studying individuals with PLAN, we also hope to identify disease markers that can be used in future clinical trials. A disease marker is any symptom or measurement that happens reliably in a disease, changes predictably with disease progression, and becomes “better” with successful treatment. A disease marker could be an MRI finding, a protein level in the blood, or a rating scale to measure symptoms or function. Natural history studies provide data that serve as the foundation for future drug trials.

Funding Needs: Cost of research is approximately $30,000 per year.

For more information please visit: http://nbiacure.org/our-research/in-the-clinic/planready/

Development of Treatments for INAD

Dr. Paul Kotzbauer and his team at Washington University School of Medicine

Dr. Kotzbauer is working to develop treatments for impaired PLA2G6 enzyme function, the underlying cause of Infantile Neuroaxonal Dystrophy (INAD). The PLA2G6 gene encodes an enzyme that catalyzes the production of free fatty acids from lipid molecules called phospholipids and lysophospholipids. Gene mutations that cause INAD interfere with the ability of the PLA2G6 enzyme to function properly. Dr. Kotzbauer is currently developing approaches to screen chemical compounds for their ability to either improve the function of the PLA2G6 enzyme or to stimulate other enzymes to compensate for impaired PLA2G6 function. The goal of the project is to develop efficient and sensitive screening approaches and then to perform initial screens to identify compounds with the desired properties. The initial screening effort could identify molecules that are suitable for further optimization and testing as therapeutic agents. The project will also provide important information about the best strategies for further screening efforts to develop treatments for INAD.

Funding needs: Current Funding for Dr. Knotzbauer’s research will be depleted by end of 2017.  Additional funding will be needed continue his valuable research.

For more information please visit: http://www.kotzbauerlab.wustl.edu

Gene Therapy Research

Dr. Manju Kurian and her team at University College London

Funding from a three-year, $150,000 grant (awarded in 2014) provided by fundraising efforts of Kristin Phillips and the NBIA Disorders Association. Dr. Manju Kurian of University College London is researching a gene therapy approach for PLAN aka INAD. The team has expertise in gene therapy and will use a “viral vector” as a delivery system to replace the faulty gene with a working gene. The researchers hope this strategy paves the way for future clinical trials in patients with PLAN. In April 2017, Dr. Kurian and her team announced they’ve had success with their therapy in lab and are moving towards human translation.

Funding needs: Dr. Kurian is seeking $65,000 for a post doctorate student to continue this valuable research for a cure.