eNews October 2012
October 23, 2012
Volume 5, No. 9
Dr. Mark Lebwohl of the Mt. Sinai School of Medicine and PXE International are now recruiting those with biopsy-proven PXE who are 18 years or older to participate in a two-year clinical trial of magnesium supplementation as a treatment for PXE.
Please email Abbie Moore or call her at 202-362-9599, extension 252 if you are interested.
More information on the magnesium supplement clinical trial.
Ottawa PXE Regional Meeting
Monday, October 29, 2012, 7-9 PM
We’d love for you to join us for a free PXE Regional Meeting in Ottawa, Ontario at the Children’s Hospital of Eastern Ontario [CHEO]! Christine Vocke, Director of Education and Information for PXE International, will host this gathering. Come enjoy the fellowship of other PXEers and their families! There will be plenty of time for Q & A.
Avastin and Lucentis are Equivalent in Treating AMD: CATT Two Year Results
by Rachel Koren, Research Intern, PXE International
In July 2012, Ophthalmology published the final results from the two-year Comparison of Age-related Macular Degeneration Treatments Trials (CATT) clinical trial comparing Lucentis and Avastin treatments for wet age-related macular degeneration (AMD). The two-year results of the CATT are similar to the first year. After two years, Avastin and Lucentis were found equally effective in treating AMD. However, there were small long-term differences between the groups receiving treatment only as needed as opposed to once monthly. Those who received either treatment only as needed showed slightly less vision improvement than those who received the treatment each month. While this study does focus on age-related macular degeneration, the results can also be informative and exciting for PXEers suffering from similar problems with vision loss. Read the lay summary.
9th Annual North American ABC Meeting, Frederick, MD
On September 27 and 28, 2012, the Office of Rare Diseases, NIH, and Mike Dean from the Laboratory of Experimental Immunology, National Cancer Institute, hosted the 9th Annual North American ABC Meeting. Christine Vocke, PXE International’s Director of Education and Information, and several of the researchers who attended our 2012 PXE Research Meeting earlier that week attended the ABC Meeting, including András Váradi , Tamás Arányi and Oliver Le Saux . Karobi Moitra chaired the opening session, “Genetic Diseases and ABC Transporters”, and presented the results of her study with Mike Dean using Next Generation sequencing to find novel mutations in PXE. Karobi wove into her presentation the very human side of PXE by artfully telling the story of the Terry family’s journey into the world of advocacy, highlighting the advantages to researchers of having access to a clinically well-characterized pool of DNA samples from patients with PXE in the PXE International BioBank. Drs. Arányi and Le Saux also presented results of research on PXE.
The North American ABC Meeting features presentations from graduate students, post-docs and senior investigators studying the role of ATP-binding cassette proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area were presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.
Advocacy Alert: Protect Federal Support for Rare Diseases
As part of the Budget Control Act of 2011, a budget cut of between 8.5% and 10% of all Federal programs is to take effect at the end of this year. This includes all rare disease reserach funding at NIH, and all rare disease support programs at the FDA.
Take action now to support a balanced approach to deficit reduction and let your elected officials know that Federal support for rare diseases is important to you.