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Ongoing Thoughts Ten:
By William E. Steinman:
Gene Therapy:
I have never been this optimistic about my vision problem
since I first discovered it in September of 2005. A lot has gone down since
then and my vision has declined steadily. It has reached the point where I no
longer have enough confidence to drive. Everywhere I go, someone, usually Mrs.
Gaffer, has to take me there and bring me back. It is a bum deal for both of
us, and for my friends.
Of course, I have been looking for and hoping for some kind
of scientific breakthrough in vision research. Now it seems we have such a
thing going on. It is too early to tell, but gene therapy may be the tool that
unlocks the secrets of the human body. Very recently, we had an exciting
announcement from Children's
They were able to restore vision to three young adults who,
before the therapy, we virtually blind. The kids suffer from a severe eye
disease called Leber congenital amaurosis or LCA. LCA is also called
Leber’s Syndrome II. This is a genetic disease, which is hereditary in
that it occurs in several members of the same family. It seems the defect is
carried by the female members and males are affected by transmission.
Clearly, the kids with LCA were facing a terrible future
until this most recent development in gene therapy. Now the youngsters who were
treated can read several lines on an eye chart. This can only be called a major
breakthrough. This therapy was a Phase I clinical trail. Phase I means the
investigation is the first of its kind and considered to be experimental. I for
one will anxiously await the results of the ongoing research that will spring
from this first limited experiment.
The speculation is that this will lead to innovations in the
treatment of many degenerative eye diseases. Among these are retinitis
pigmentosa, Stargardt disease, Usher syndrome, and macular degeneration.
Macular degeneration is the one I am interested in. I want to be able to trust
my eyes again.
This whole gene thing began when one form of LCA was
identified with a particular gene, RPE65. That was more than ten years ago in
1997. Since then, a lot of hard work has been done by these magnificent
researchers. First, they worked with more than 50 dogs that were born blind.
All of them were treated and all of them can now see. The nest step was the
Phase I study on human subjects. The next step will be to enroll several people
in another study. This study will try to evaluate the safety and efficacy of
various doses of treatment.
In Phase II studies, these researchers, using increased
doses, hope to restore near-normal vision to people with LCA. The doses
administered in the first study we considered to be the minimum dose that could
be partially effective. That limited dose was used to satisfy safety concerns.
Results of the clinical trials were published on
The first studies were very limited. Only one eye was
treated in each child. The gene itself is delivered using a therapeutic virus
known as an adeno-associated vector or AAV. This is a harmless tailored virus
used to carry a normal RPE 65 gene, which is injected directly into the retina.
The theory is that this augments the defective gene in the subject and results
in improved vision.
There is a great deal more work to be done. There are twelve
different genes associate with the different forms of LCA. This particular
therapy treats only one of these. Then there are all of the other eye diseases
to investigate. Besides making financial donations to the Foundation Fighting
Blindness, all I can do is hope and wait for an opportunity to volunteer.
In the meantime, I am keeping myself informed. To that end,
Mrs. Gaffer and I attended a lecture given by Tim Schoen, Ph.D. He is deeply
involved in the support of vision research through the Foundation Fighting
Blindness. He knows a great deal
about what is going in and he outlined all of the cutting-edge research being
done. I am more hopeful than ever.
On another front, I learned from an article in the Detroit
Free Press about valiant young woman who, though legally blind, is doing great
things. Mrs. Gaffer likes to bring things like that to my attention whenever
she thinks I might be in danger of feeling too sorry for myself. This girl
suffered from a disease called lupus, which caused her to become legally blind.
That was three years ago. In spite of that, she continued her education and
will graduate from high school this year with a 3.5 GPA. A person with perfect
vision could wish for a record like that. I got this information from an
article in the Detroit Free Press written by Cassandra Spratling. I you need
inspiration, you can find the entire article in the
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