We've updated our Privacy Policy to make it clearer how we use your personal data.

We use cookies to provide you with a better experience. You can read our Cookie Policy here.


Genzyme Published Study Describing Gene Therapy Approach for Niemann Pick Disease

Want a FREE PDF version of This News Story?

Complete the form below and we will email you a PDF version of "Genzyme Published Study Describing Gene Therapy Approach for Niemann Pick Disease"

Technology Networks Ltd. needs the contact information you provide to us to contact you about our products and services. You may unsubscribe from these communications at any time. For information on how to unsubscribe, as well as our privacy practices and commitment to protecting your privacy, check out our Privacy Policy

Read time:

Genzyme Corp. has announced the publication of a new study in The Proceedings of the National Academy of Sciences describing a preclinical gene therapy approach for treating Niemann-Pick disease.

The study, conducted by a team of Genzyme researchers, demonstrated that administering gene therapy both systemically and directly into the brain helped to preserve motor and cognitive functions and significantly extend lifespan in a mouse model of Niemann-Pick disease.

The authors write that this combination approach may represent a promising clinical strategy for treating diseases that affect visceral organ systems as well as the central nervous system. Current treatments which do not cross the blood-brain barrier, such as enzyme replacement therapy, are limited in their effectiveness for such disorders with brain involvement.

In the study, Genzyme researchers tested the combination of brain and systemic injections of adeno-associated viral vectors encoding human acid sphingomyelinase, the enzyme that is deficient in patients with Niemann-Pick disease types A & B. This combination approach was compared to mice treated singly with either of the two modes of delivery, and to mice that were left untreated.

After 54 weeks of observation, the researchers found that combination therapy led to preservation of motor and cognitive functions at near normal levels. The combination-treated group also lived longer and was free of many of the neurological and physical manifestations of the disease shown in either of the singly treated groups or the non-treated group.

Importantly, researchers established immune system tolerance to the therapy by administering it systemically before it was administered to the brain, which the paper suggests may be an important part of any strategy to apply these findings to a clinical setting.