NBIA NEWS & INFORMATION

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.