Transcript Funding Desmoid Tumor Research and Providing Support

Funding Desmoid Tumor Research
and Providing Support
The Desmoid Tumor Research Foundation Experience
CTOS, Berlin, October 2014
www.dtrf.org
What We Do and Why It Matters
DTRF is dedicated to:
• Funding research for a cure for desmoid tumors
• Providing informational support to patients.
Patient Support: www.dtrf.org
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
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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
Justin Cates, MD- PhD
Thomas Stricker, MD- PhD
Matt van de Rijn, MD-PhD
Joanna Przybyl, PhD
Two Complimentary Approaches
Using shared samples sets Vanderbilt and Stanford
groups are looking at:
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exome sequencing
»mutations, indels, translocations
2-
gene expression profiling
»mRNA, lncRNA expression levels
The Ohio State University Comprehensive Cancer Center
We asked if mutations in the gene for b-catenin
production correlated with desmoid recurrence
Desmoid Recurrence
It is more prevalent with 45F mutation in the gene
regulating b-catenin production
• Impact on clinical decision-making
Collaboration for a Cure: Identifying new therapeutic
targets for desmoid tumors
“Collaboration for a Cure”
• 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
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/.
Impact
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This is the first Phase III trial in desmoid tumors.
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Largest trial and will be open in 100+ hospitals
throughout the U.S.
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Can Nexavar delay/avoid surgeries, radiation or
chemotherapies?
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If this is successful, it paves the way for evaluating
new drugs in this and other rare tumors.
“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