NBIA NEWS & INFORMATION

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:

May 2018

Thanks to the fundraising efforts of BPAN families, research into this NBIA disorder is taking a leap forward this year with the award of three grants totaling $146,014.

Two of the grants went to Dr. Penelope Hogarth of the Oregon Health & Science University in Portland for a natural history study of Beta-propeller Protein-Associated Neurodegeneration, or BPAN. Our organization awarded her $45,000, and another $50,507 came from the University of Pennsylvania as a matching grant in collaboration with our organization.

Although an increasing number of BPAN individuals are being diagnosed, there is much to learn about how the disease progresses.

November, 2017

Drs. Susan Hayflick, Penny Hogarth and Ody Sibon told PKAN families recently that they are working with two companies to create a PKAN drug to ensure sufficient amounts for a clinical trial.

Speaking with PKAN families via a Facebook live stream video Nov. 6, the researchers said they are hopeful the compound that they are calling CoA-Z will correct a metabolic process involved in producing coenzyme A, called CoA. CoA is involved in metabolism and is thought to be low in individuals with Pantothenate Kinase-Associated Neurodegeneration, the most common form of NBIA. In the PKAN mouse, CoA-Z does everything Hayflick, Hogarth and Sibon would want to see before moving their studies into a human clinical trial.

August, 2017

The NBIA Disorders Association board in June awarded its first grants for two projects to research Fatty Acid Hydroxylase-associated Neurodegeneration, or FAHN, one of the NBIA disorders.

The grants were made possible by the fundraising efforts of the Engblom family from East Islip, N.Y. Parents Trevor and Gina, along with their son Kyle who has FAHN, worked tirelessly for over a year to raise the money.

October, 2017

In July, the first patients taking part in an international clinical trial on a possible treatment for PKAN, the most common NBIA disorder, received Retrophin Inc.’s drug, fosmetpantotenate, also known as RE-024.

This long-awaited launch of Phase 3 of the trial, which Retrophin delayed until manufacturing issues were resolved, will assess the safety and effectiveness of RE-024. If the San Diego-based company is successful, RE-024 would be the first medication targeting the underlying cause of PKAN, or Pantothenate Kinase-Associated Neurodegeneration. It could change the course of the disease.