Gene therapy is a growing field and the idea of one fix and not a lifetime
of drugs is very exciting. Gene editing is also growing in use and holds
promise. But both fields are still relatively young and we are just starting
to hear of treatments in multiple diseases. Genetic diseases such as our
NBIA ones that have one gene causing the problem make them good targets for
this type of therapy.
We already have gene therapy studies underway for PLAN (INAD is the most
common form of PLAN) at University College London. We hope they will be able
to go to clinical trial in the not too distant future. What we learn there
will undoubtedly help us with the other NBIA disorders. Especially the use
of the correct vector that is able to penetrate the brain and the site where
insertion is best. Since you only get one chance to get it right when giving
to humans, you cannot move too quickly and do it wrong. I've been told a
second attempt at gene therapy in the same individual is not possible or
advised in most cases.
But from what researchers have told me, before gene therapy is possible you
must have a good understanding of what causes the problem with the gene and
have a good idea of how to fix it. Our Scientific & Medical Advisory Board
says that basic science into this question is essential for BPAN. Therefore,
we have been concentrating on these areas at this time, along with starting
natural history studies so that we will be "clinical trial ready" when the
time is right. You need studies showing how individuals are affected with as
wide and variable population as possible over an extended period of time in
order to be able to judge if any drug or treatment is truly working and
exactly how well it is working.
NBIADA, with the help of our BPAN families, recently funded two BPAN grants
that were just announced by the U of PA. We participated in their Million
Dollar Bike Ride last May where they matched the $50,507 we raised. One of
the $50,507 grants is for a continuation of a BPAN Natural History Study
that NBIADA also just funded for $45,000, so that means we have $95,507
committed to that project.
The other $50,507 grant is to Dr. Zhang who is an expert in autography which
is involved in BPAN. The name of his application was: “Mechanistic study of
WDR45 in the autophagy pathway and neurodegeneration.” He is currently a
visiting Professor at the University of Massachusetts Medical School and is
a researcher at the Institute of Biophysics, Chinese Academy of Sciences, in
In addition we have a 2 year grant for a BPAN mouse model that is just now
wrapping up and hopefully their work will help prepare us for treatments to
test in BPAN mice to see if helpful.