May 11, 2012

Enzyme Treatment for N-Glycanase Disorder

Just one of Genzyme Corporation's patents related to the manufacture of N-glycanase.

Prepare to get the chills.

Most enzyme disorders require years and millions of dollars in Research and Development to develop an enzyme replacement treatment.

Not in this case.

N-glycanase.  Is.  Already.  Manufactured. 
 ...for laboratory use only.

As Bertrand would have you know, N-glycanase is a very important and useful enzyme. So much so, that it is already used extensively in the research and creation of other enzymes and pharmaceuticals.

Several patents related to the manufacture of N-glycanase (including the one above) were issued to Genzyme Corporation in the early 1990s.

Genzyme Corporation is a world leader in biotech, rare disease, and pharmaceutical development.

It is the perfect company to translate N-glycanase from a lab product to a drug for human use.


What about the dreaded FDA approval process?
Won't it be years before Bertrand could get this treatment?

In February of this year, the FDA modified their policy for expanded access (more commonly referred to as "compassionate use").

The FDA will grant permission within 30 days of receiving an application for expanded use of Investigational New Drug (IND) by an individual.

"It is intended to improve access to investigational drugs for patients with serious or immediately life-threatening diseases or conditions who lack other therapeutic options and who may benefit from such therapies."

Yup.  Bertrand qualifies.


What do we need?

(1) A doctor comfortable with overseeing Bertrand's experimental treatment.
In case you're wondering: how hard is it to find a doctor who trained as a pediatrician, with a specialty in clinical biochemical genetics, with a research focus on metabolic disorders, specifically congenital disorders of glycosylation? The answer is "very".

(2) Genzyme's cooperation with developing a human N-glycanase treatment.
We're waiting to hear back from a Genzyme representative.

(3) FDA expanded access approval.
This actually appears to be the easy step.  We need the doctor and Genzyme's help first.


A few more points...

Confirming patient #2 with an N-glycanase disorder would add significant grease to the wheels.
(Fingers crossed.)

And like many enzyme replacement treatments, N-glycanase would not cross the blood brain barrier.  However, the brain is among the organs with the least use of N-glycanase, so Bertrand could still experience substantial benefit.  Also, there are options to circumventing the BBB worth exploring.


  1. Oh my goodness, this is amazing!!!!!!

  2. Soooo exciting! Little B is in our thoughts!

  3. amazing. Been wanting to message you today but been slammed at work. THIS post gives me a little bit of peace and takes away some of my own fears about upcoming testing we are doing . . . my fear of the unknown - of finding out what "it" is and "it" not being something we want to hear is paralyzing. But then, I read this, and I KNOW that we have to keep looking because what if "it"is something we can somehow manage or treat with some intervention?

    Such amazing news for you and B and your little fam. xo