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The Desmoid Tumor Research Foundation

DTRF Leadership Team Attends CTOS 2023

Jeanne Whiting, DTRF Executive Director Emeritus, and Lynne Hernandez, DTRF Executive Director

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Jeanne Whiting, DTRF Executive Director Emeritus, and Lynne Hernandez, DTRF Executive Director, attended CTOS 2023 in Dublin, Ireland, November 1-4.

The team was honored to connect and collaborate with other patient advocacy groups, researchers, and industry professionals. The conference felt full of energy and the promise of accelerating the science toward more treatment options for desmoid tumors and all sarcoma patients.

Last year’s designation of desmoid tumors as Sarcoma of the Year propelled a year of groundbreaking research in our rare disease. Researchers from varied backgrounds presented multiple scientific posters about desmoid tumors.

SpringWorks Therapeutics Medical Science Liaison Mitchell Allen, PhD and DTRF Executive Director, Lynne Hernandez

The DTRF Patient Registry poster titled, “Characterizing the Patient Journey To Diagnosis of Desmoid Tumor: Desmoid Tumor Research Foundation Natural History Study” was presented at CTOS 2023 by SpringWorks Therapeutics Medical Science Liaison Mitchell Allen, PhD (pictured with Lynne Hernandez, DTRF Executive Director). It won first place in Category 1: Improving Sarcoma Care Globally!

This honor would not have happened without the participation of desmoid tumor patients and caregivers. They are the backbone of this research. Their vast and varied experiences are critical in guiding topics of future desmoid tumor research, and the DTRF is committed to elevating the patient voice wherever we can.

The poster was created in partnership with SpringWorks Therapeutics under the leadership of the DTRF’s Principal Investigator for the Registry, Kelly Mercier, Ph.D., and the poster’s first author, Shengfan Zhou, MS (SpringWorks).

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The Desmoid Tumor Research Foundation Announces That Groundbreaking Results From The Phase 3 Springworks Defi Trial Were Published Today In The New England Journal Of Medicine In The Article, “Nirogacestat, A Γ-Secretase Inhibitor For Desmoid Tumors.” The Fda Recently Accepted The New Drug Application (Nda) For Nirogacestat And It Is Now Under Priority Review.

(Pittsburgh, PA) – Thursday, March 9th, 2023 – Years of advocacy by The Desmoid Tumor Research Foundation (DTRF) facilitated clinical trials in nirogacestat in desmoid tumors. On February 27, 2023, SpringWorks Therapeutics announced FDA acceptance and Priority Review of their New Drug Application (NDA) for nirogacestat, for the treatment of adults with desmoid tumors. The NDA is based on the previously announced positive results from the DeFi (NCT03785964) phase 3 trial, a global, randomized, double-blind, placebo-controlled trial evaluating nirogacestat in adult patients with desmoid tumors. Results from the DeFi trial were published today in The New England Journal of Medicine in the article, “Nirogacesat, a γ-Secretase Inhibitor for Desmoid Tumors,” by Drs. Gounder, Ratan, Kummar, Kasper et al.

This exciting news follows a 14 year, arduous path. Nirogacestat, a γ-secretase inhibitor, was first studied in patients with a range of solid tumors including seven desmoid tumor patients. A poster presentation of the promising results of this work in desmoid tumors caught the eye of a member of the National Cancer Institute’s (NCI) Rare Tumors Initiative. The NCI team, Shivaani Kummar, MD and Abby Sandler, PhD, wanted to run a phase 2 trial, but due to the rare nature of the disease, concluded that they couldn’t be successful without the support of a patient advocacy organization. After they found the DTRF, NCI and the DTRF enthusiastically collaborated to bring the phase 2 trial forward. While it had been anticipated that it might take up to two years to fill this trial, with the DTRF’s outreach to patients, the trial was filled in less than 5 months.

Despite promising results that were coming out of the phase 2 study, a business decision resulted in halting the development of this molecule. Once again, the DTRF galvanized its resources and continued discussions with Pfizer staff, determined not to let this potential treatment stall because it showed such promise for desmoid tumor patients who have limited treatment options and no approved therapies. Supportive clinicians, as well as encouraging staff at Pfizer, supported the effort to move the drug forward. Eventually SpringWorks Therapeutics was created to acquire nirogacestat and other assets that showed potential in underserved patient populations. 

Under newly-formed SpringWorks, the phase 3 DeFi trial for nirogacestat eventually opened. Over the following 15 months, with the help of the DTRF’s outreach, the trial was fully enrolled. In September 2022, final trial data were presented in a Presidential Symposium during the ESMO Congress and at the DTRF’s annual International Desmoid Tumor Research Workshop. In December 2022, SpringWorks filed a New Drug Application for nirogacestat in desmoid tumors which was accepted for Priority Review on February 27, 2023. If approved, nirogacestat could be available to patients as the first FDA-approved therapy in desmoid tumors.

With the support of the DTRF, three additional clinical trials on desmoid tumors are currently underway. For a rare disease with an incidence rate of 5-6 per million, these are remarkable accomplishments that demonstrate the power of collaboration between patient groups, researchers and industry.

About The Desmoid Tumor Research Foundation 

The Desmoid Tumor Research Foundation (DTRF) was co-founded in 2005 by Jeanne Whiting and Marlene Portnoy, with the mission of facilitating and funding desmoid tumor research and supporting patients with information. The DTRF’s mission is to aggressively fund research to accelerate the development of improved therapies, and ultimately find a cure for desmoid tumors. The DTRF collaborates with dedicated researchers and clinicians worldwide to facilitate research and improve the lives of patients through education, awareness and support. Every year the Foundation’s progress has gained momentum with new clinical trials, emerging therapies and important new discoveries about the disease coming to fruition. The DTRF is the recipient of the National Organization of Rare Disorders Abby S. Meyers Leadership Rare Impact Award, and the Global Genes’ Champions of Hope Rare Champion in Advocacy Award. For more information, please visit www.dtrf.org.

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Press Contact:
Maggie Cameron
Communications Manager, DTRF
Maggie@DTRF.org

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SpringWorks Therapeutics has announced FDA acceptance and priority review of the New Drug Application (NDA) for nirogacestat, their investigational gamma secretase inhibitor for the treatment of adults with desmoid tumors.

“The acceptance of our NDA for nirogacestat with Priority Review represents a significant milestone in our ambition to provide the first approved therapy for patients with desmoid tumors. We look forward to working closely with the FDA during the review process and remain focused on ensuring that we are well-positioned to expeditiously serve the desmoid tumor patient and the physician communities following approval.”

Saqib Islam, CEO, SpringWorks Therapeutics

Read the press release

What This Means

This announcement brings our community one step closer to an FDA-approved therapy for desmoid tumors. The FDA now has until August 27, 2023 to complete the review process, which will lead to a decision of whether nirogacestat will receive FDA approval. This is very exciting!

Related News

The DeFi phase 3 trial results that lead to this NDA were published in The New England Journal of Medicine. The publication and NDA are remarkable accomplishments that demonstrate the power of collaboration between patient groups, researchers and industry.

Read DTRF Press Release.
Read “Nirogacestat, a γ-Secretase Inhibitor for Desmoid Tumors” on NEJM.org.

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Thank you to the Connective Tissue Oncology Society (CTOS) for hosting “Desmoid Fibromatosis”, a webinar aired in advance of the 2022 CTOS Annual Meeting to further educate sarcoma professionals on #desmoid tumors and the patient experience.

Watch the recording of the event

The DTRF’s Executive Director Jeanne Whiting presented “Patients’ Perspective: Navigating the Desmoid Tumor Journey”, and other presenters covered pathobiology, pathology, and localized and systemic treatment options currently available for desmoid tumors. The webinar ended with a thoughtful dialogue between experts on current challenges.

We are grateful for this coveted spotlight and want to thank all who attended hoping to learn more about this #raredisease and its impacts. 

DTRF Executive Director Jeanne Whiting thanked the community after her presentation:

“I want to thank everyone who helped me share the desmoid tumor patient story in this talk. I received almost a hundred patient comments and stories submitted by email. I wish I could have shared everyone’s story, but I hope I was able to convey the major issues we face along with the emotion and meaning behind your comments. It was a wonderful opportunity to have this special CTOS webinar focused on our disease and to let the patients’ voices be heard!”

We look forward to hearing more about the “Sarcoma of the Year” at #CTOS2022 in November!

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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.