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.
August, 2017
Calling it “a big deal,” Dr. Susan Hayflick, who has been studying the NBIA disorders since the early 1990s, announced at the June family conference that her lab is working on two potential treatments for PKAN, the most common form of NBIA.
One is a previously approved U.S. Food and Drug Administration drug, which Hayflick didn’t name but said her lab had just begun testing in PKAN-impaired mice. It’s “pretty safe and inexpensive and available worldwide, but we have to see if it helps the mice” said Hayflick, a physician and researcher at the Oregon Health & Science University in Portland.
