NIH Research Publication

Available at the links to the left.







Major Milestone in MMA Research

All MMA and OAA families,

I wanted to write a quick note to forward the link of a major research publication from the NIH team ( Randy Chandler, PhD candidate and Charles Venditti MD, PhD) that has shown, for the first time, that a gene therapy can be used to treat methylmalonic acidemia. The paper is freely available at the following links:

The researchers were able to effectively "cure" the MMA mice using gene therapy. The team engineered a highly effective virus to express the gene and then injected the mice immediately after birth. They showed that 26/27 or greater than 95% of the treated mice live for more than 1 year - this is the equivalent of living to ~30 years for a person. When untreated, the MMA mice that did not receive the gene therapy had a 100% chance of dying. They also used a non-invasive technique that relies on carbon dioxide production by the mice to track the efficacy of gene therapy by capturing and analyzing expired breaths from the treated mice. You can read the paper for details. Because the type of virus (AdenoAssociated Virus, or AAV) used by the team has been successfully given to humans, many hundreds of times, without any adverse event, there is now great promise that gene therapy may be used to treat some of the children with Mut MMA. There are implications for other disorders as well. (Great news for all OAA families)

A quote from the end of the paper: "Our studies are the first to demonstrate that methylmalonic acidemia, and by extension other organic acidemias, might be treated by gene therapy with a safe and effective vector. This conclusion offers strong support for the continued and expanded screening of infants for disorders of intermediary metabolism and to the application of gene therapy to humans with methylmalonic acidemia."

This accomplishment is monumental in the path towards a cure for MMA, in our children, and I would be remiss if I did not express gratitude to several groups of folks. First, I’d like to thank every person who supported the MMA Research Fund over the years. As a small grass roots fund we have managed to raise in the order of a half million dollars over a nine year period. Our collective efforts directly supported and effected the results being communicated today. Second, Dr. Venditti’s research team, including Randy Chandler, who’s combined dedication, innovation, and ingenuity has been instrumental in this accomplishment. And last and most importantly, Dr. Venditti. Words cannot express the level of gratitude and appreciation for what he has done. At cross roads in his life there were many more attractive (and I’m confident more lucrative) options along the way. Ten years ago he made a commitment to finding a cure for MMA. A 130 mile family move, three children, many many weekends, and too many late nights to mention (running into the office to check on mice in the middle of the night) he has never wavered on his commitment. And amazingly, he does all this for no one but our kids. Few people in this world are as admirable as he.

Thank you seems to trivial, but thank you from the bottom of our hearts and congratulations on this milestone!

Martin Moran

October 2009