RESEARCH & FUNDRAISING

NBIA is complex and research funding is limited

The exact location of the abnormal iron accumulation in the basal ganglia (which has five different regions) and the specific cause of that accumulation is different for each of the 10 genetic disorders. This means that finding a cure for each type of NBIA will need different funding and research. Current research and funding has been focused on PKAN because it accounts for 35-50% of the cases of NBIA. There currently are several clinical trials for PKAN. 

 

Parents have been key in raising funds for the other NBIA disorders.

 

The next round of NBIA research grants to focus on BPAN and FAHN

http://www.nbiadisorders.org/news-events/286-bpan-fahn-grants

 

  • The campaign to raise donations for FAHN, “We Will Never Give Up Hope,” was spearheaded by Gina Engblom of East Islip, N.Y. Her 16-year-old son, Kyle, has FAHN.  Engblom used our FirstGiving platform to accept donations earmarked for FAHN research, in addition to receiving donations from friends and supporters who held community fundraisers. It took a little over a year to raise the $45,000 for the grant.

  • Last year, BPAN families raised over $40,000 in just five weeks to add to money to their research fund. As a result, their organization financed a two-year, $67,760 research grant to create a BPAN mouse model.

  • More recently, Jennifer and Brian Greene of Porter Ranch, Calif., and Krystal Bettega of Joliet, Ill., got busy raising money for a new BPAN grant. Both families have a child that was newly diagnosed with BPAN. Their efforts, combined with $7,000 from previous fundraising, is making the upcoming $45,000 grant award possible.

ORGANIZATIONS & EVENTS

“For the first time ever, people affected by an NBIA disorder can tell us about their disease and how it affects their lives. Better information about how each of these diseases progresses prepares us for therapeutic drug trials. We are building knowledge to determine if new drugs improve health and function. People with an NBIA disorder as well as family members will be able to contribute. Stay connected here and help our community become 'trial ready.'”

Some key takeaway points from the meeting were:

  • Allison presented on how our understanding of what symptoms individuals with BPAN have is changing. By analyzing the medical records all of you have so graciously sent, we are learning that the spectrum of symptoms is much broader than we originally thought. You can see some key highlights in Allison’s presentation

  • Dr. Hogarth has identified a compound that acts on the BPAN biological pathway. This drug is FDA-approved for another purpose so we are hopeful that if it shows promising results in the lab and on test animals, then we may be able to quickly move on to clinical trials in individuals with BPAN.

  • Our lab and Dr. Papandreou’s research group in the UK are also testing a number of other compounds that will hopefully lead to clinical trials in the future.

  • Finally, we learned that there were many advantages to holding a research meeting in Portland, including coordination and efficient processing of biological samples. Therefore, we will likely be replicating this type of meeting in the future for other NBIA disorders.

Current projects

  • Building the patient and family registry

  • Developing assays to measure autophagy in BPAN

  • Testing an FDA-approved drug in those assays

  • Finding ways to measure BPAN

  • Figuring out how to pay for it all

 

Lessons learned

  • Families are central

  • Power is in numbers

  • Collaboration is key

  • Funding is inadequate

  • Time is of the essence

Meeting Highlights Include:

  • Discovery updates on the NBIA disorders

  • Advances in therapeutics for NBIA

  • Poster sessions and round table discussions

BPAN overview presentation by Allison Gregory, MS, CGC 

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June 13, 2017

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