Announcement About PKAN Treatment Research

Is it true that OHSU is working on a treatment for PKAN?

Many of you in the family community have heard rumors that the OHSU team is working on a new treatment for PKAN, and we know you are eager to learn more. We’ve been keeping very quiet about our work because we are caring clinicians and careful scientists: we want to give you hope, but only when we can be confident about the science on which it is based. We’re at that point now, and so are ready to share information about a new compound we are developing in collaboration with colleagues in Europe. It is called “CoA-Z” (pronounced ‘co-A-zee’), and we believe it holds great promise for PKAN.

Why do you think CoA-Z will help PKAN?

  • Until now, drugs in development for PKAN have only been tested in animals, such as fruit flies or mice treated with a toxin. Although these animal models can give us helpful information, they don’t necessarily mimic the human disease. Now, we have found a compelling new way of measuring signs of disease in the brains of mice that have mutations in the PKAN gene. These same signs of disease (“biomarkers”) are not present in healthy mice without PKAN. Even more exciting, these same biomarkers are present in cells from people with PKAN, and are not present in healthy people without PKAN. This is BIG NEWS, because it has finally given us a better way of testing treatments for PKAN and a way of monitoring response to these treatments in people with the disease.
  • When we feed CoA-Z to the PKAN mouse, it fixes all signs of disease in the brain (the biomarkers go back to normal levels).
  • When we feed CoA-Z to PKAN cells from humans, the abnormal biomarker levels change to match the cells from healthy people.
  • We need only tiny doses to completely fix the signs of disease in the mouse brain, and even very high doses of the compound show no bad side effects in the mouse.
  • We have met several times with the FDA, the agency that reviews and approves drugs, and have had very positive feedback about our fast-track plans to move the compound into humans.

So…..what’s next?

  • Making large amounts of CoA-Z from scratch has proven more challenging than expected: this is the main thing that has been slowing us down. Although we now have two different methods of making CoA-Z, there are still some challenges to overcome before we are ready to give it to people with PKAN:
    • ∘ A recipe that works beautifully to make enough CoA-Z to feed to a mouse – even a lot of mice – doesn’t necessarily work when it is scaled up to the quantities needed for all the people with PKAN who will need it. Both methods (recipes) need to be tested for their ability to produce large quantities of CoA-Z.

      ∘ A compound that is to be given to humans has to be extra-pure and super-safe. We are working with companies that can produce CoA-Z to the high standards required by the FDA.

      We are committed to keeping the cost of CoA-Z as low as possible for families, but this work is very expensive. We are fundraising, writing grants, and donating our own funds to support this work. We welcome contributions at NBIAcure.org. Donations will make the work go faster, since we will not need to spend as much time applying for grants.

  • We want you to know that we are working very hard to bring what we believe is a very promising, very safe compound to you as fast as we can. We plan to launch a clinical trial just as soon as we have enough CoA-Z and funding to do so, using a study design that allows you to participate from home, completing online assessments and blood draws at your local doctor’s office or lab.
  • We plan to publish our work soon and will keep you posted of our progress on the NBIAcure.org website, as well as via tweets, Facebook, and email alerts.

But wait….there’s more!

In addition to CoA-Z, findings in the PKAN mice have given us reason to believe that an existing FDA-approved drug may help PKAN. We are in the process of testing this drug in the mice. If it also fixes the PKAN mouse brain biomarkers, we may be able to launch a study even sooner. Stay connected to us at NBIAcure.org…

What can you do?
You can help now by enrolling in the PKANready study and completing your assessments on time. This online study will give us baseline information about how PKAN affects you or your child, so we can compare symptoms “before” and “after” any treatment.