[firstname] [lastname], The Myelin Project Newsletter 18-Dec-09 

You may donate online at http://www.myelin.org/en/donations/add.asp

In the past twenty years, thanks in part to those who have made generous donations to The Myelin Project, we have learned quite a lot about X-linked ALD (X-ALD). While there are still no therapies available to treat the full-blown symptoms of childhood X-ALD, we have found that, if begun before symptoms develop, treatment with Lorenzo’s oil may be able to prevent the onset of symptoms (Arch Neurol. 2005 62:1073-80). Lorenzo’s oil is not always effective. However, if symptoms are detected very early it is possible to perform a bone marrow or cord blood transplant. When successful, this therapy appears to arrest the development of further symptoms. The first successful transplant recipients are just now entering their 20’s, so that it will still be a few years before we know whether they will also escape AMN. 

Last month, a great advance in X-ALD treatment was announced. A team headed by Dr. Patrick Aubourg, University Paris-Descartes, have developed a way to transplant the X-ALD gene (Science. 2009 326:818-23). The team was able to remove most of the genes from a virus, and then replace the viral genes with a normal X-ALD gene. The virus retained its ability to get into cells, but lost its ability to cause any disease. The team then took bone marrow cells from an X-ALD patient, and infected them with the modified virus. The virus carried the normal X-ALD gene into the cell, where it began to function. The modified bone marrow cells were given back to the patient. Because they function normally, the modified bone marrow cells were able to restore gene function in the X-ALD patients. This technique will permit treatment of patients for whom a bone marrow donor is unavailable. Even better, because the patient’s own cells are used, the danger of transplant failure is greatly reduced. 

Each of these effective treatments relies on identifying carriers of the X-ALD gene very early. Usually, that does not happen unless another family member has been identified. We are working to help change that.   Researchers at The Kennedy Krieger Institute of Johns Hopkins University in Baltimore are developing a newborn screening test for the X-ALD gene. When finished, it is anticipated that the test will be widely adopted. Developing this test is important not only because successful treatment relies on early identification, but also because a significant number (perhaps as high as 5%) of X-ALD cases arise from new gene mutations. In those cases, family history is not helpful in identifying at-risk children. 

FUND RAISING

The 2009 Got The Nerve? Triathlon held in Mount Gretna, Pennsylvania was a huge success this year with over 675 participants. The Myelin Project would like to thank Chris Kaag, his immediate and extended family, and the over 100 volunteers for all their hard work and efforts put into this well-organized event. Each year this triathlon gets bigger and better. The Myelin Project would also like to thank Got The Nerve? corporate sponsors: Clover Farms, Yuengling Brewery, PRL. Inc, Reading Orthodontic Group, Power Bar, and All Risks. The 2009 Got The Nerve? Triathlon raised over $20,000 for The Myelin Project.   The funds raised at this year’s event have been designated to help fund The Augusto Odone New Investigator Award for AMN research.

The Myelin Project would like to express its sincere and deep gratitude to the people of Branford, Connecticut and the surrounding communities who made the 2009 Hammerfest Triathlon a huge success. The 2009 Hammerfest and Brian’s Beachside Boogie raised over $60,000 for The Myelin Project. These funds have been designated to help fund newborn screening for x-linked ALD.  

Thank you to the staff of The Owenego Inn, and Jane Rosenthal, John and Pat Bloomquist for hosting the event each year.   We also want to thank Race Productions and Race Director, Ron Meneo, together with Michael, Scott and Margit of Race Productions who produce and direct the Hammerfest Triathlon and Brian’s Beachside Boogie each year. In addition to their services, Race Productions also makes a generous financial donation to The Myelin Project each year. Thank you, Race Productions.   A special thank you to Molly Phalen, who donated her 16^th birthday to raise money for The Myelin Project and raised over $3,000.    The Myelin Project would also like to take this opportunity to thank John, Jean and Brian Kelley, their immediate and extended family for their generous and continued support.  

We also want to acknowledge the fabulous Lemonade Gang of Branford, CT.  This group of young people have raised money and donated selflessly to The Myelin Project. The Lemonade Gang was founded by Greg Nobile and Ryan Bloomquist.    The Lemonade Gang began approximately eight years ago. The then very young children wanted to do something to help their dear friend, Brian Kelley, in his heroic fight against adrenoleukodystrophy. The gang has evolved but the core group has stayed intact. While their passion has grown, so too has their committment to the Myelin Project. The Lemonade Gang donated over $6,000 to The Myelin Project this year. 

This year The Myelin Project created The Augusto Odone New Investigator Award for AMN (adrenomyeloneuropathy) research.   This research award is a collaborative effort with Oliver’s Army and is also co-funded by Oliver’s Army. This research award was created to discover ways to treat adrenomyeloneuropathy (AMN), the forgotten side of X-ALD and also to encourage and keep brilliant, promising young scientists interested in leukodsytrophy research and more specifically AMN research.  

Approximately one-third of the males who carry the X-ALD gene develop an inflammatory brain disease in childhood, as was depicted in the movie “Lorenzo’s Oil”. But the men who escape this childhood catastrophe almost invariably develop a different disease in their 20’s or 30’s, adrenomyeloneuropathy (AMN). Even fewer know that about half of women who carry the X-ALD gene also develop AMN, but later in life. The symptoms of AMN may be quite similar to those of multiple sclerosis, although they are quite separate diseases.

We are pleased to announce that the winner of this award is Celia Kassmann of the Max Planck Institute of Experimental Medicine in Goettingen, Germany.   Through the generosity of Mark Liley and Oliver’s Army, a second award was made to Dr Aurora Pujole of Institut d'Investigació Biomédica de Bellvitge of Barcelona, Spain, to study AMN. Dr. Pujole intends to study ways to develop rational therapies for AMN, concentrating on some drugs that are already on the market for other purposes. 

Drs. Kassmann and Pujole will each receive $150,000 per year for two years to complete their projects. 

THANK YOU FOR VISITING OUR WEB SITE

In 2009 our web site had over 176,000 visitors from 185 countries and in 101 languages.    In 2009 we opened a branch in Istanbul, Turkey. Turker Aydin is the President and was instrumental in creation of this new Branch and also created the web site which is http://www.myelinturk.org/   Thank you Mr. Aydin and welcome to the Myelin Project family.

 WE NEED YOUR HELP

We are still racing the clock . The single biggest barrier to progress is our scientific research is lack of funding.    Won’t you please help us today with your generous and immediate support.   All gifts to the Myelin project are fully tax deductible.