A Leap Forward in Rare Disease Treatment_V2

A Leap Forward in Rare Disease Treatment_V2


There’s been some long-standing questions about whether Erdheim-Chester Disease qualifies as a cancer
or not one of the discoveries that in my mind added a lot of clarity to that question was the discovery of the BRAF mutation in about fifty to sixty percent of patients
with Erdheim-Chester disease the B-RAF mutation is a mutation that we
see in a number of different cancers, it’s
reminded myself a lot of other physicians in the area that really helps re-classify this as a cancer over
autoimmune disease this is a cancer-causing mutation that
occurs in other cancers other tumors most
predominantly melanoma and patients with the
disease whose tumor has this mutation are eligible
for the trial that we have we have now even multicentric trial with a drug which blocks the activity of a protein which
is called B-RAF is a trial which is opened at multiple centers including us (MD ANderson) and including Memorial
Sloan-Kettering Cancer Center in the call the trial is not only to
establish the fact that the drug works but also I would think ultimately get approval for a drug to be prescribed for Erdheim-Chester and this is
unprecedented and so far it’s very clear that the drug really has
true efficacy in this disease the patients
that have been treated on this will tell you that firsthand and learning more about the scenes we
were able to to do a partnership with the National
Cancer Institute and were able to move from the Natural History protocol phase to a treatment phase and then we have a
phase two trial where we’re testing the safety and efficacy of two drugs that are inhibiting the pathway that
this affected in this condition I’m actually more optimistic
about this clinical trial that I’ve been about any clinical trial for one thing it’s run in an incredibly
rigorous fashion really has two drugs involved one that
addresses the B-RAF itself and and the other that
addresses the problem downstream when you get a tissue biopsy which often is obtained from the bone the quality of
the material is not good enough to do all these
important studies to find out what is the molecular makeup of the Erdheim-Chester disease in that specific patient Erdheim-Chester patients need to be
followed very closely because there can be symptoms problems that come up frequently and
come up over time and someone has to be able to recognize
whether they are the result of the disease the result treatment the result of other
medical problems in the urine when the cells die that stay in the body the DNA goes into the blood stream and then gets infiltrated to the kidney and you can collect that
urine and check for the mutation it also is a tool that will help the patients who are being
treated with B-RAF inhibitor therapy to see if the treatment is working the
study that we needed I’m in collaboration with MD Anderson
we show that the amount of the B-RAF mutation in the
urine changes in reflection with how
effectively you’re treating this disease the advantage of the urine testing is
that its and a non-invasive test and it seems
to have excellent ability to detect the B-RAF mutation so it I think it’s a
technology that’s particularly valuable to this patient population It is so unbelievable that we’re now at the
stage that they are actually talking about treating the
disease rather than just treating the symptoms of the disease

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