First viral gene therapy vector approved-- Out of the trials, into the patients

Domesticating wild organisms-- Whether its domesticating teosinte or aurochs, bending wild organisms to our will is always a game-changing event in human history.

The domestication of viruses is no exception.

We now live in a world where small-pox, a virus that once wiped out entire continents, is now functionally extinct.  Generations of people see iron lungs in textbooks, not wrapped around their childhood friends.  Diseases that once plagued childhood-- 'chicken pox', 'measles', or 'mumps'-- children today havent even heard those terms before.

Vaccines are a revolution.

But thats not all we can do with domesticated viruses.

Viruses that once caused death and disease themselves are now used to treat life-long genetic diseases and deadly cancers.  Though the domestication of viruses for this kind of utility got off to a rocky start, viral-based therapies are a game-changing technology in human history.

But there is a frustrating side to all the cool things Ive written about on ERV using viruses For Good.

All of these awesome findings?  They were done under very controlled settings, with controlled selection of patients, for research.

It is *amazing* that a woman in one of these studies went from 'almost certainly dead from Stage IV metastatic melanoma' to 'no evidence of disease'.  AMAZING. But unless you were part of that particular clinical trial, anyone else who is 'almost certainly dead from Stage IV metastatic melanoma' does not have access to the treatment.  They cannot get it.

This is a necessary part of our therapy approval process.  No one wants to rush to conclusions after some positive preliminary results, only to kill a bunch of people with some unforeseen side-effect.  Taking a treatment from the lab, to clinical trials, into the clinic is a cumbersome process.

Well one therapy, one I actually havent written about before on ERV, is finally across that finish line:

European Medicines Agency recommends first gene therapy for approval

Lipoprotein lipase (LPL) deficiency is literally a one-in-a-million disease (in the US).  Due to mutations/deletions in the gene for lipoprotein lipase (an enzyme), they have sky-high levels of triglycerides in their system, leading to all kinds of complications, including bouts of pancreatitis (one of the most painful conditions, Ive heard). This is a life-long, genetic condition, and the only treatment we have for it is to have patients reduce the amount of fat they eat :-/  And sometimes even that doesnt work.

Enter viruses.

Scientists used our good friend Adeno Associated Viruses to deliver a functional gene for lipoprotein lipase to deficient patients... and it works.  The trade-name for it now is 'Glybera':

In all studies conducted the therapy proved to be well tolerated and no material safety concerns were observed. Data from the clinical trials indicates that fat concentrations in blood were reduced after therapy in nearly all patients between 3 and 12 weeks after injection of Glybera. A single dose administration of Glybera resulted in a long-term presence and biological activity of the protein in the injected muscle. Importantly, a single administration of Glybera® resulted in a long-term, clinically important reduction in the occurrence of acute pancreatitis episodes – which represent the most debilitating complication of LPLD

One dose. One dose of a GMO AAV, and people with LPL deficiency have a lot less pain in their lives.  A pain they have had to deal with since infancy.  Reduced, if not gone.  One dose.

Even though only one-in-a-million people have this disease, they now dont have to have be lucky enough to be in this AAV clinical trial.  This therapy is now available in the clinic, in Europe.


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Very cool. Lets hope this is one of many!

As a former gene therapy researcher, I agree. Very sweet!

However, it's not quite approved yet, right? It's been recommended for approval by the CHMP, but final approval requires a Marketing Authorization from the European Commission. As I understand it, the EC typically goes along with the CHMP's recommendation. I sure hope anti-GMO-type politics don't get in the way

Wow, this is awesome.

The road to complete control of our own genetic destiny is composed of tiny, incremental steps.

Such as this one.


By Bob Powers (not verified) on 23 Jul 2012 #permalink


You are right, the EC usually follows the recommandation of the CHMP. Give it 3 to 4 months, and the product will be licensed within the EU.

I wonder how Uniqure will set the price of this product, and how willingly the different EU countries will be to include this treatment in their social security services. I read somewhere that it could be €1.25 million per patient.