NBIA NEWS & INFORMATION

April 2019

Two new BPAN grants were awarded in January from the University of Pennsylvania, with crucial input from the NBIA Disorders Association.

In both cases, the grants will enable researchers to build on their previous studies of BPAN, or Beta-Propeller Associated Neurodegeneration, which is fast becoming one of the most common forms of NBIA.

The money for the grants comes from last year’s Million Dollar Bike Ride held in May 2018 by the Orphan Disease Center at the University of Pennsylvania. For the second year in a row, BPAN family supporters rode and managed to qualify for a matching grant of $50,000 from UPenn. Because the riders raised slightly more than the required match, one-year grants of $51,020 each were awarded for the two new BPAN studies.

Our organization writes the request for proposals, and members of our Scientific & Medical Advisory Board review grant applications. The University of Pennsylvania manages the grants, and sends us copies of the scientific reports that grant recipients provide.

Dr. Hong Zhang of the Chinese Academy of Sciences in Beijing, has received a $51,020 grant for BPAN research. He is currently a visiting professor at the University of Massachusetts Medical School.

One new grant will go to Dr. Hong Zhang, who received a grant from the 2017 Million Dollar Bike Ride. Zhang will be able to continue his studies into the functions of the mutated WDR45 gene, which causes BPAN. Zhang, a visiting professor at the University of Massachusetts Medical School and a researcher at the Institute of Biophysics, Chinese Academy of Sciences, in Beijing titled his newest project, “Mechanistic study of WDR45/45B and their binding partner ATG2 in the autophagy pathway of neural cells.”

What that means is Zhang will be studying the role of the protein WDR45 that’s made by the WDR45 gene that causes BPAN. He also will study WDR45B, the protein for the WDR45B gene that causes another neurodevelopmental syndrome characterized by intellectual disability, spastic quadriplegia, epilepsy and cerebral hypoplasia. Specifically, he’ll be looking at the impact these proteins have in the neural pathway for autophagy, the natural, multi-step process by which the body recycles or cleans out certain toxic materials to maintain proper functioning and stability.

April, 2019

Dr. Lauriel Earley from the University of North Carolina - Chapel Hill, will work on a PANK2 gene therapy for the treatment of PKAN in her newly awarded grant.

Two new grants to study PKAN were awarded early this year by the NBIA Disorders Association in collaboration with two of our European sister organizations, AISNAF in Italy and Hoffungsbaum e. V. in Germany.

These grants mark the first time all three NBIA groups have teamed up to fund research projects.

The organizations received 12 proposals, with eight focusing on PKAN, three on BPAN and one on MPAN. All were evaluated by an International Scientific Advisory Board made up of scientists and clinicians with expertise in the field of rare, neurodegenerative diseases, including NBIA. In a second step, the projects deemed worthy of funding were shared with a Lay Review Board consisting of parents and patient representatives. The lay group had the final say on which projects would be funded.

The members selected two PKAN studies. No proposals to study BPAN or MPAN met the funding standards, so a new call for proposals for these two disorders went out in March.

April, 2019

Possible treatments for two NBIA disorders are being tested in clinical trials that are either in progress or being planned for the near future.

The best known of these is the Retrophin Inc. trial for Pantothenate Kinase-Associated Neurodegeneration, or PKAN, now underway at 20 sites in the U.S., Canada and Europe. It is the first trial of a medication that targets the underlying causes of this disorder.

Retrophin, based in San Diego, finished enrolling patients in December 2018, with approximately 82 PKAN patients between the ages of 6 and 65 years. The Fosmetpantotenate Replacement Therapy, or FORT study, is being conducted under a Special Protocol Assessment agreement. That means the U.S. Food and Drug Administration believes that the trial’s design is adequate to support the filing of a New Drug Application, assuming the results are favorable.

September 2018

The NBIA Disorders Association is collaborating on five grants that will be awarded early next year, three of which are dedicated to studying BPAN, the fastest-growing NBIA diagnosis. The other two disorders eligible for grants are MPAN and PKAN.

Researchers have been notified to submit applications for the grants this fall, and representatives of our organization will be involved in the award-selection process.

Our first call for applications is for two grants of $51,020 each to study BPAN, or Beta-propeller Protein-Associated Neurodegeneration. Those applications involve a two-step process: submitting a letter of intent, undergoing a review and being asked to submit a full application, due Oct. 15.

September 2018

Seeking to attract more scientists to study NBIA, the NBIA Disorders Association this spring awarded it’s first-ever early-career grant to a researcher. That scientist will receive a total of $150,000 spread over two years to study BPAN.

 In addition, the organization awarded a one-year $45,000 grant to another BPAN researcher.

The recipient of the early career award is Dr. Young-Ah Seo, an assistant professor of nutritional biochemistry in the department of nutritional sciences at the University of Michigan School of Public Health in Ann Arbor. The NBIA Disorders Association board created this grant category to support highly promising early-career investigators as they transition from training to independence. The board hopes recipients will maintain an interested in the disorders and contribute substantially to NBIA discoveries throughout their careers.