BREAKING RESEARCH NEWS FROM THE TS ALLIANCE
I’m writing to share some recently published articles on TSC research breakthroughs. It is incredible how many advances have been made over the last few years, along with the research’s clear implications on other diseases such as epilepsy, autism and even cancer. At the TS Alliance, we want to make sure we communicate this important information to you in a timely manner.
Journal of Neuroscience Publishes Study on Rapamycin for Treatment of an Animal Model of
Today, the School of Medicine at Washington University in St. Louis released information on a rapamycin study published in the May 27 issue of the Journal of Neuroscience. The study’s senior author is Michael Wong, M.D., Ph.D., and the TS Alliance provided partial funding for the animal model research. You can read the article’s scientific abstract online.
According to the university’s news release, “A drug with potential to prevent epilepsy caused by a genetic condition may also help prevent more common forms of epilepsy caused by brain injury.”
This research was conducted in an animal model of temporal lobe epilepsy. Critical in individuals with TSC who have epilepsy and with temporal lobe epilepsy will need to be developed in the future to determine if rapamycin or other mTOR inhibitors are effective and safe treatments for seizures.
TSC1 and TSC2 Mutations in Patients with Lymphangioleiomyomatosis (LAM) and Complex (TSC)
Dr. Elizabeth Thiele and her collaborators at Massachusetts General Hospital recently published their findings of a retrospective review of chest CTs of woman and men with TSC. They found that of 45 females and 20 males with TSC, 49% of the women and 10% of the men had cysts in their lungs consistent with LAM. In the women, 40% of them had a mutation in the TSC1 gene and 48% had a mutation in the TSC2 gene, and 71% of the women did not have an identified mutation (no mutation identified or NMI). The size of the cysts was consistent across all the groups, but women with TSC2 mutations had a greater number of cysts in their lungs. These findings suggest a higher rate of LAM in women with a TSC1 mutation than previously recognized, as well as a difference in the CT presentation between those with TSC1 versus TSC2 mutations.
This article was published online on May 5, 2009 in the Journal of Medical Genetics. Read the scientific abstract here.
Novartis Clinical Trials Now Recruiting
Novartis is now actively recruiting participants for two clinical trials testing the effectiveness of a new drug to treat Angiomyolipomas (AMLs) and Subependymal Giant Cell Astrocytomas (SEGAs). The AML clinical trial is for anyone aged 18 or older with TSC or LAM; the SEGA clinical trial is for anyone with TSC of all ages. Complete information on the AML trial is available here, or click here for information on the SEGA study.
As always, please remember the TS Alliance website offers a vast library of publications and information, so we hope you will visit it often.
With deepest respect,
Kari Luther Carlson
President and CEO