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.
If the animal tests work out, the team will begin a clinical trial in PKAN patients. The other possible treatment is a compound Hayflick’s lab has worked on in collaboration with NBIA researcher Ody Sibon of the Netherlands. The drug corrects a metabolic process involved in producing coenzyme A, called CoA, which is involved in metabolism and is thought to be low in PKAN individuals. “When we replenish CoA, iron and nerve health is corrected,” Hayflick told parents and others attending a research update session at the conference in Deerfield, near Chicago. In people with an NBIA disorder, iron accumulates in the brain, and nerve health deteriorates.
Other researchers also reported on work involving CoA, in addition to providing progress reports on other NBIA disorders.
Hayflick said that her team had identified three biomarkers (signs of illness) that show abnormalities in animals, as well as people, with PKAN. Identifying those biomarkers enables her team to test and monitor the impact of possible treatments. “That is really awesome,” she told conference participants. “This is something we’ve been trying to find for a very long time.”
The collaborative team plans to publish a paper on the work and wants to move quickly into a clinical trial that would enable participants to take the new compound, CoA-Z, without having to travel away from home. Penny Hogarth, who along with Sibon have been critical partners in advancing this work, will lead the trial. “We all share a goal but we each bring our respective expertise to this team, said Hayflick. The FDA has reacted positively, Hayflick said, adding that she expects regulators in Europe to follow suit. The international team wants to make the compound affordable to all those who need it, regardless of their country. But that’s no easy task.
“It costs a lot of money” for a nonprofit to develop a drug without investors, Hayflick said. To that end, Hogarth, Hayflick, and Sibon have created sister nonprofit organizations to raise money to develop this compound: the Spoonbill Foundation in the U.S. and Stichting Lepelaar in the Netherlands. So far, the foundations have raised $350,000. See nbiacure.org for updates.