Annual DTRF Patient Meeting Presentations from desmoid tumor researchers and physicians; patients meet one another Has grown to 275 attendees in 2014 Participants from 26 states and 7 countries including Spain, Italy, Germany, Ecuador, Singapore, Canada, Netherlands
Running for Answers 5K & Kids’ Fun Run We combine our Patient Meeting with our largest fundraiser – Running for Answers 5K with 800 participants!
Funding Research Brigham and Women's Hospital Duke University Fondazione IRCCS Istituto Nazionale dei Tumori Maine Medical Center MD Anderson Cancer Center Memorial Sloane Kettering Cancer Center Stanford University The Hospital for Sick Children The Ohio State University University of Pennsylvania University of Chicago Huntsman Cancer Center Vanderbilt University Medical Center
Next Generation Sequencing Approach to Desmoid Tumors Matt van de Rijn, MD-PhD Joanna Przybyl, PhD Justin Cates, MD- PhD Thomas Stricker, MD- PhD
Two Complimentary Approaches Using shared samples sets Vanderbilt and Stanford groups are looking at: 1-exome sequencing » mutations, indels, translocations 2-gene expression profiling » mRNA, lncRNA expression levels
We asked if mutations in the gene for b-catenin production correlated with desmoid recurrence The Ohio State University Comprehensive Cancer Center
Desmoid Recurrence Impact on clinical decision-making It is more prevalent with 45F mutation in the gene regulating b-catenin production
Collaboration for a Cure: Identifying new therapeutic targets for desmoid tumors
Screen compound libraries for agents that target desmoid cell culture viability but not normal fibroblast viability Test positive hits in additional cell cultures Test agents that have potential for rapid translation to patient care in mice Re-screen agents that work in mice for additive effects with other agents Test a multi-drug regimen in cells and then in mice “Collaboration for a Cure”
Other Current DTRF-Funded Projects “High throughput genome study to identify predictors of aggressiveness in patients with sporadic desmoid tumor who undergo a wait and see approach,” Principal Investigator Chiara Colombo, MD Fondazione IRCCS Instituto Nazionale dei Tumori “Targeting hyaluronic acid in desmoid tumors,” Nancy Cho, MD, Brigham and Women’s Hospital
A Multicenter, Phase III, Double Blind, Randomized, Placebo-Controlled Trial of Sorafenib in Desmoid Tumors Study Chair/PI: Mrinal Gounder (MSKCC) Co-PI: Gary Schwartz (Columbia) and Robert Maki (Mt. Sinai) ALLIANCE chair: Monica Bertagnolli (Harvard) ALLIANCE Trial: A large network of hospitals. This study is being conducted in hospitals throughout the U.S. Opened in March 2014. Updated list of centers can be found at http://clinicaltrials.gov/.
This is the first Phase III trial in desmoid tumors. Largest trial and will be open in 100+ hospitals throughout the U.S. Can Nexavar delay/avoid surgeries, radiation or chemotherapies? If this is successful, it paves the way for evaluating new drugs in this and other rare tumors. Impact
“De-regulated mTOR in Desmoid-type Fibromatosis: Identification and Validation of a New therapeutic target.” Aaron Weiss, DO, Maine Medical Center A pilot study examining the role of sirolimus in the treatment of children and young adults with desmoid tumor.
National Institutes of Health Clinical Center Bethesda, MD Phase II Trial of PF-03084014 (a gamma-secretase inhibitor) in Adults with Desmoid Tumors
First International DTRF Desmoid Tumor Research Workshop
Research Workshop – Next Steps Developing single cell derived clonal lines for desmoid tumors that can be available to researchers world wide - perhaps through an RFA process; The development of a registry of research materials amiable for sharing by the community (e.g. a registry of genetically modified mice that are amiable); Consideration of the development of a multicenter registry and tissue bank; Development of clinical measures for outcome of drugs to be tested through the FDA (e.g. volumetric measures); and The development of an open access process for the rapid exchange of research ideas.
Working Together We Will Find a Cure! Acknowledgements and thanks: Our advisors, DTRF Board of Directors and Scientific Advisory Board Our patients and volunteers Researchers and their sponsoring institutions devoted to research Desmoid organizations in Europe Connective Tissue Oncology Society