NBIA NEWS & INFORMATION

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.

May 2018

Hurry! June 15 is the deadline to apply for NBIA Disorders Association research grants to study Beta-propeller Protein-Associated Neurodegeneration (BPAN).

The association plans to award two grants for BPAN research with money raised exclusively by BPAN families.

One is a $45,000 grant that is open to all scientists. The organization is interested in projects that have the potential to generate essential resources for the scientific community, advance knowledge about NBIA disease processes and produce preliminary data so that additional national and international funding can carry the work forward.

The other grant is for an early-career faculty investigator grant — our first such offering. Applicants must be within five years of their first faculty appointment, or the equivalent. The selected recipient would get up to $75,000 each year for two years, with an option for a third year, depending on progress.

This grant is intended to support highly promising but relatively new researchers as they transition from training to independence. The goal is to engage an investigator who will contribute substantially to this field for the duration of his or her career.

May 2018

One of the key activities of the NBIA Disorders Association is awarding research grants, most of it with money raised by our hardworking families.

The board of trustees receives invaluable help from our Scientific and Medical Advisory Board, which helps set research goals, evaluates proposals and monitors projects after the board funds them. In evaluating proposals, the advisory board puts greatest priority on new paths of study that could lead to a treatment or a cure.

Throughout the process, the advisory board follows high ethical standards. For example, researcher-advisers who submit a proposal or have a conflict of interest must state their conflict and recuse themselves from decision-making. After the board of trustees approve a grant, it holds grantees accountable for meeting deadlines, delivering the promised work and providing updates to share with families. These recipients must submit regular financial and scientific reports to our SMAB; payments are made in stages after those reports are submitted.

Since 2002, the trustees have funded 33 research grants totaling $1,290,914. The board also has funded research contracts totaling $357,408, Hayflick lab funding at $250,000 in 2009 (when it was in jeopardy of closing) and part of a clinical consensus treatment guide at $16,117. All told, that’s nearly $2 million for research.

Here are updates on recent grants the board awarded: