The Desmoid Tumor Research Foundation

CTOS Names “Desmoid Fibromatosis” The 2022 “Sarcoma Of The Year” For Fall Conference

News

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*Update: Watch the CTOS webinar on Desmoid Tumors*

The Connective Tissue Oncology Society (CTOS) – a prestigious organization of multidisciplinary sarcoma medical professionals – has named desmoid fibromatosis as the “Sarcoma of the Year” for their 2022 annual meeting this fall.

As part of this honor, the DTRF’s Executive Director Jeanne Whiting will present “Patients’ perspective: navigating the desmoid tumor journey” during a special webinar that will be aired by CTOS on Thursday, October 20th from 10am – 12pm ET.

The webinar will feature pre-recorded contributions from a patient advocate and 15-minute educational sessions on the pathobiology, pathology, and localized and systemic treatment options currently available for desmoid tumors. The webinar will finish with a dialogue between experts on current challenges.

The aim of the webinar is to bring all members to a good basic level of understanding of the “Sarcoma of the Year” in preparation for the CTOS Annual Meeting taking place a few weeks later in November.

Stay tuned for information about how to access this webinar.

We look forward to this opportunity to increase awareness about desmoid tumors and the patient experience with the global sarcoma community this fall.

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On May 24, 2022, SpringWorks Therapeutics announced topline results from their Phase 3, double-blind, placebo-controlled trial called the DeFi trial. This trial evaluates the gamma secretase inhibitor, nirogacestat, for efficacy, safety and tolerability in adult patients with progressing desmoid tumors.

The DeFi trial’s primary endpoint was met by improving progression-free survival (PFS) for usage of nirogacestat compared to placebo, with a 71% reduction in the risk of desmoid tumor progression.

SpringWorks Therapeutics expects to present additional data at an upcoming medical conference as well as submit a New Drug Application (NDA) to the U.S. Food and Drug Administration in the second half of 2022.

From SpringWorks Therapeutics’ press release:

“‘Desmoid tumors are aggressive soft-tissue tumors that can lead to severe negative outcomes for patients, including long-lasting pain, disfigurement, and amputation. In rare cases, when vital organs are impacted, desmoid tumors can also be life-threatening,’ said Saqib Islam, Chief Executive Officer of SpringWorks. ‘Today’s announcement represents a significant milestone towards our goal of bringing the first approved therapy to the desmoid tumor community. We look forward to sharing the DeFi trial data with the FDA and to presenting detailed study results at a medical meeting later this year.’”

The DTRF would like to express our gratitude to members of the community who have participated in and are currently enrolled in clinical trials, including the DeFi trial. Your participation is advancing our understanding of desmoid tumors and bringing us closer to improved treatments for all desmoid tumor patients.

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As many patients know first-hand, “Response Evaluation Criteria in Solid Tumors” (known as RECIST) – a standard methodology of measuring a patient’s tumor response to treatment – is not always the best method to measure treatment outcomes for desmoid patients.

RECIST criteria are used in clinical trials to assess if a tumor is progressing, stable, or responding to treatment. RECIST is strictly measurement-based and does not factor in other positive indicators that do not involve changes in tumor size. Additionally, RECIST relies on certain measurements to monitor response – such as “longest dimension” – which may not accurately reflect the typical response of desmoid tumors to treatments.

To address this issue, the DTRF and members of its Advisory Boards have formed a working group with top radiologists, as well as pharmaceutical medical professionals who design clinical trials for desmoid patients. This working group will potentially help define other imaging features beyond RECIST that can be used to better evaluate patient outcomes.

The first working group meeting held earlier this week was a resounding success. We would like to thank our working group chairs, Drs. Mrinal Gounder and Larry Schwartz, for hosting this meeting which will impact the future of radiology in desmoid tumors.

This is an ongoing project and we will keep the community updated as it develops.


Learn more about the Radiomics Working Group

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It is with full hearts that we share with you today that Marlene Portnoy, the DTRF’s Co-Founder and Executive Director, will be transitioning her role within the Foundation.

In February, Marlene will become a major gifts officer and board member where she will continue to support the financial health and future of the Foundation. The role of Executive Director will pass to her co-leader and partner in this journey, the DTRF’s Co-Founder and President, Jeanne Whiting.

After 16 years of tireless work that has helped the DTRF transform the landscape for desmoid tumor patients and their families, Marlene will begin a new and exciting chapter in her life. This change in roles will allow her to spend more time with her husband and their children and grandchildren, while continuing to support the Foundation.

For so many in our community, Marlene has been the first person to help guide them in the right direction after their diagnosis with a desmoid tumor. She has given reassuring support at our annual events, has been an inspiring example of perseverance and leadership, and has formed lasting bonds with patients and families. Her work with the patient and medical communities has accelerated the fight to better understand this disease.

From the bottom of our hearts, we thank Marlene for all she has given to the mission of the DTRF, and for her family’s constant support. We are grateful to have her continue in her new role as we advance desmoid tumor research together.


To learn more about the history of the DTRF, read Our Story.

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*Update: Watch Jeanne Whiting, DTRF Co-Founder, accept the Global Genes Champions of Hope “RARE Champion in Advocacy” Award (beginning at time code 52:42).*

We’re thrilled to share that the DTRF has been honored with the Global Genes Champions of Hope “RARE Champion in Advocacy (Foundation)” award!

Through the RARE Champions of Hope Awards, Global Genes honors and recognizes “true champions for rare disease.” At the awards ceremony on November 18th, Global Genes recognized leaders who have made a significant impact in advocacy, industry, medical care, science, as well as up-and-coming rare disease leaders.

We were honored to be in the company of our fellow nominees and we deeply appreciate this significant recognition from Global Genes.

Our work would not be possible without the support of our incredible desmoid tumor community! THANK YOU!

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We are excited to announce that two, stable, long-term desmoid tumor cell lines will be available for researchers to access soon.

With the support of the DTRF, Mushriq Al-Jazrawe, PhD, a postdoctoral fellow at Boehm Lab, has successfully created two stable cell lines that replicate the features of desmoid tumors. The stable cell lines can survive for long periods of time in the lab, making it easier to study desmoid tumors and perform large-scale experiments. One of these cell lines harbors a T41A mutation in the CTNNB1 gene, while the other has an S45F mutation. The cell lines will be available soon through American Type Culture Collection (ATCC).

ATCC is a private, nonprofit, global biological resource center and standards organization that provides scientists with the biomaterials and resources they need to conduct critical life science research. ATCC is one of the world’s largest suppliers of cell lines to labs around the world.

This project is only possible with our community’s support. If you would like to help champion desmoid tumor research initiatives like these, please consider making a donation.


Learn more about Desmoid Tumor Cell Lines