Hello. This is Anne Pariser.
I'm the Director of the Office of Rare Diseases Research at
NIH's National Center for Advancing Translational Sciences.
I'm going to be talking to you about clinical trial designs for rare diseases.
So, as context, here we are in 2019 and we're living in
a time of just incredible scientific advancement that is proceeding rapidly.
Human genomes have been featured in some mainstream publications which, of course,
opens up just an enormous opportunity to deliver targeted therapies to patients.
But, where we are right now,
these targeted treatments continue to have
a slow transition from the scientific advances to actually improving human health.
Estimates right now take about 15 years to develop a new treatment;
this could be a little bit more or a little bit less depending and we're
unfortunately still in a paradigm where most clinical development programs fail.
So, how do we advance promising science to move more quickly to benefit our patients?
To provide a little more background,
we'll just go over a few rare disease facts and challenges.
Rare diseases are often called orphan diseases,
are defined differently depending on where you are in the world.
In the US it is defined as less than 200 thousand people with the disease or condition
in the US, which is roughly about six per 10,000;
in the EU orphan diseases are defined
as those that affect less than five per 10,000 inhabitants,
and in Japan, it's four per 10,000.
But, the reality of this is
overwhelmingly orphan diseases are far fewer than these prevalence incidence estimates,
and most of the time there's actually an agreement
on these rare diseases between the various regions.
Most rare diseases are also serious or life-threatening,
and there are about 7,000 different rare diseases that have been described.
The most recent estimate I saw was about
71,000, although, in reality, there's probably more than that-
there had been some estimates that
it could be as high as 10,000.
The majority of these are Mendelian genetics or the so-called single-gene disorders,
and about half to two-thirds of them manifest in
childhood, which, of course, brings some special considerations.
Right now we're describing 200 or so new rare diseases every year,
the diseases are actually not new but they're being newly identified,
which, of course, introduces new challenges.