Final days to save 20% off DTRF "Together We Will" Weekend tickets. - Register today!

The Desmoid Tumor Research Foundation

FDA APPROVES OGSIVEO™ (NIROGACESTAT), AS THE FIRST MEDICAL THERAPY FOR THE TREATMENT OF ADULTS WITH PROGRESSING DESMOID TUMORS.

OGSIVEO FDA-Approval Featured Image

Press Release

by

(Pittsburgh, PA) – November 27, 2023 – The U.S. Food and Drug Administration (FDA) announced approval today of OGSIVEO (nirogacestat) for the treatment of adults with progressing desmoid tumors. This is the first FDA-approved medical therapy in this rare disease. FDA approval follows positive results from the SpringWorks Therapeutics, Inc. (Nasdaq: SWTX) DeFi (NCT03785964) phase 3 clinical trial, a global, randomized, double-blind, placebo-controlled trial evaluating nirogacestat in adult patients with desmoid tumors. Results from the DeFi trial were published on March 9, 2023, 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.

OGSIVEO (nirogacestat) is an oral gamma secretase inhibitor. For more information, visit www.ogsiveo.com.

“The significance of FDA approval of OGSIVEO (nirogacestat) to desmoid tumor patients cannot be overstated. This is an extraordinary victory in the area of rare diseases, and demonstrates the power of collaboration among patients, industry and researchers.”

Jeanne Whiting, Executive Director Emeritus, Desmoid Tumor Research Foundation

“SpringWorks is grateful to the Desmoid Tumor Research Foundation, as well as the patients and investigators who participated in our trials, whose enduring commitment and enthusiasm helped us get to this point. We are honored to provide the first FDA-approved therapy and committed to offering ongoing support to the desmoid tumor community throughout their treatment journey on OGSIVEO.”

Saqib Islam, Chief Executive Officer, SpringWorks Therapeutics

The collaborative path to approval

The Desmoid Tumor Research Foundation (DTRF) has been instrumental in the nearly 15-year path to approval of OGSIVEO (nirogacestat). The drug 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 early work in desmoid tumors caught the eye of members of the National Cancer Institute’s (NCI) Rare Tumors Initiative, Shivaani Kummar, MD and Abby Sandler, PhD. The pair were interested in a phase 2 trial, but due to the rare nature of the disease, concluded that in order to be successful they needed the support of a patient advocacy organization. Synergistic collaboration between the DTRF and NCI brought the phase 2 trial forward, and with the DTRF’s outreach efforts, filled it in less than five months. 

Despite promising results that were coming out of the phase 2 study, a business decision resulted in halting the development of the asset. Determined not to let this potential treatment stall, the DTRF once again galvanized its resources and continued discussions with Pfizer staff. Supportive clinicians, as well as encouraging staff at Pfizer, supported the effort to move the drug forward. Eventually SpringWorks Therapeutics was created to license nirogacestat and other assets that showed potential in underserved patient populations.

Under newly-formed SpringWorks, the phase 3 DeFi trial for nirogacestat opened. During the conduct of the DeFi trial, and with the help of DTRF’s patient outreach, the trial was fully enrolled in July 2020. In September 2022, trial data were presented in a Presidential Symposium during the ESMO Congress and at the annual DTRF International Desmoid Tumor Research Workshop. In December 2022, SpringWorks filed a New Drug Application for nirogacestat which was accepted for Priority Review on February 27, 2023. Today, FDA approval of OGSIVEO (nirogacestat), makes it the first FDA-approved drug for the treatment of adults with desmoid tumors.

“This breakthrough represents the power of patient advocacy. The Desmoid Tumor Research Foundation’s role in OGSIVEO’s path to approval represents collaboration at its finest. Were it not for their advocacy work to shepherd the drug through the trial phases, facilitate communication among stakeholders, and use their outreach to help fill the trial, we may not be here today. I’m honored to be part of the process that brings the first-ever FDA-approved medical therapy to desmoid tumor patients.”

Mrinal Gounder, MD, Memorial Sloan Kettering Cancer Center

About desmoid tumors

Desmoid tumors (also known as aggressive fibromatosis) are rare, invasive, soft tissue tumors that form in the connective tissues of the body. They affect 5-6 per 1 million people per year. Although they do not metastasize, desmoid tumors can be locally aggressive and severely damage surrounding tissues and vital structures as they grow. They are highly recurrent and can be multifocal. These tumors may occur anywhere in the body (abdominal, intraabdominal, and extra-abdominal locations) and approximately 5-10% arise in the context of a rare genetic condition known as Familial Adenomatous Polyposis (F.A.P.). Previously, there have been no approved therapies for desmoid tumors.

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 a 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.

For more information about this important milestone for desmoid tumor patients, read the FDA’s and SpringWorks’ press releases linked below.

SpringWorks Therapeutics Press Release

U.S. FDA Press Release

DTRF Press Release PDF

Media Inquiries

Maggie Cameron
Communications Manager, DTRF
Maggie@DTRF.org

by

(Pittsburgh, PA) – Sunday, October 1, 2023 – More than two years of advocacy by the Desmoid Tumor Research Foundation (DTRF) has led to the approval by the Center for Disease Control (CDC) of new codes specific to the diagnosis of desmoid tumor, which also identify tumor location. The new codes go into effect today, October 1, 2023.

Previously, desmoid tumors were assigned to the former code D48.1, “Neoplasm of uncertain behavior of connective and other soft tissue.” This same broad code was also assigned for many other types of soft tissue neoplasms. In accordance with a rigorous multi-step process to request code changes, the DTRF first requested specific desmoid tumor diagnosis codes in the summer of 2021. On September 14, 2021, the proposal was presented by Dr. Breelyn Wilky to the ICD-10 Coordination and Maintenance Committee, co-chaired by the CDC. Following a review and comment period the finalized proposal was again presented to the Committee in March of 2022. Approval of the codes below was  made public in April of 2023, and the new codes are in effect as of October 1, 2023.

  • D48.1 Neoplasm of uncertain behavior of connective and other soft tissue
    • D48.11 Desmoid tumor
      • D48.110 Desmoid tumor of head and neck
      • D48.111 Desmoid tumor of chest wall
      • D48.112 Desmoid tumor, intrathoracic
      • D48.113 Desmoid tumor of abdominal wall
      • D48.114 Desmoid tumor, intraabdominal Desmoid tumor of pelvic cavity
        • Desmoid tumor of pelvic cavity
        • Desmoid tumor, peritoneal, retroperitoneal
      • D48.115 Desmoid tumor of upper extremity and shoulder girdle
      • D48.116 Desmoid tumor of lower extremity and pelvic girdle
        • Desmoid tumor of buttock
      • D48.117 Desmoid tumor of back
      • D48.118 Desmoid tumor of other site
      • D48.119 Desmoid tumor of unspecified site
    • D48.19 Other specified neoplasm of uncertain behavior of connective and other soft tissue

To clarify, D48.1 is no longer a valid diagnosis code. It is now a category heading. The specific codes that are now used for desmoid tumors are shown in the red brackets and range from D48.110-D48.119. For more detailed information on using the codes, please visit dtrf.org/clinicians-researchers/desmoid-icd-10-codes/.

These new codes were published in the CDC’s Comprehensive Listing of ICD-10-CM Files as part of the formal FY 2024 ICD-10-CM. Linda Holtzman, MHA, RHIA, CCS, CCS-P, CPC, COC, a professional coder with Clarity Coding, consulted with the DTRF during this process.

Impact

By identifying desmoid tumors distinctly and by tumor location, the new codes will improve communication, reduce paperwork for physicians, and improve claims processing efficiency for insurers, all of which will benefit patients in the long run. Distinct codes will also allow researchers to analyze “real world” data on desmoid tumors toward a better understanding of its course and the effectiveness of treatments.

Although the new codes apply only to the US, other countries that follow the US version of the coding system may consider adopting them into their own coding systems.

The DTRF is facilitating the customary coding education rollout through outreach to the desmoid tumor community of clinicians, researchers, patients, and caregivers, along with outreach to sarcoma organizations and coding communities.

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. We collaborate with dedicated researchers and clinicians worldwide to 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 discoveries about the disease coming to fruition. The DTRF has been 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.

PDF Version

# # #

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

by

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.

# # #

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

Download PDF

by

DTRF’s Efforts Enable Largest Clinical Study On Desmoid Tumors, And New England Journal Of Medicine Publishes Breakthrough Study Results

(New York, NY) – Thursday, December 20th, 2018 – The efforts of The Desmoid Tumor Research Foundation (DTRF) enabled the largest clinical study ever in desmoid tumors. The New England Journal of Medicine just released the breakthrough study results in their December 20, 2018 article, “Sorafenib for Advanced and Refractory Desmoid Tumors.”

To date, there are no approved drugs for desmoid tumors. This international study, a first of its kind, showed that patients treated with sorafenib reduced the risk of tumor growth or death by 7-fold, which are groundbreaking results.

In 2010, when the DTRF heard news of promising results from a small pilot study conducted by Dr. Mrinal Gounder at Memorial Sloan Kettering Cancer Center with 26 desmoid tumor patients responding to sorafenib, they wasted no time in encouraging him to set a Phase III clinical trial in motion. Dr. Gounder then began a series of conversations with the FDA and the National Cancer Institute to start an international trial in this rare cancer with the purpose of getting sorafenib approved for patients with desmoid tumors.

It took over three years of efforts to finally open this study as there were countless barriers to conducting a study in a rare cancer. The Phase III study, which opened in 2014 across the United States and Canada, accrued 87 patients, a remarkable number for an ultra-rare cancer. Due to the tireless efforts of the DTRF founders, Jeanne Whiting and Marlene Portnoy, the The DTRF played a significant role in the recruitment for the trial, filling it in half the time expected–
a record time of just under 17 months.

This enabled the first clinical trial of its kind on desmoid tumors, and one of the largest Phase III clinical trials on a rare disease, to take place. Prior to this study, many cancer experts had declared that conducting a trial like this would be impossible or futile in desmoid tumors. The implications of this study are immense as researchers now try to identify how research in desmoid tumors can be applicable to fighting other types of cancers, particularly colon cancer which is a leading cause of death worldwide.

The DTRF’s efforts also played a role in moving forward another investigational treatment that was “stuck” on the shelves of a large pharmaceutical company after being deprioritized for business reasons. Nirogacestat, a gamma secretase inhibitor, showed encouraging results in a Phase II study sponsored by the NCI. However, the drug’s clinical development program was halted by the pharmaceutical company. The DTRF advocated for nirogacestat because it showed such promise and patients with desmoid tumors had limited treatment options. SpringWorks Therapeutics was then conceived by Pfizer as an innovative way to advance investigational therapies that may hold significant promise for underserved patients.

In just a year since the company’s formation, nirogacestat received fast-track designation from the FDA and SpringWorks is preparing to start a Phase III study in adult patients with desmoid tumors in the first quarter 2019. Once again, when nirogacestat showed promising results in an early study, the two fearless women who co-founded the DTRF advocated to move the drug forward. They galvanized the patient community they had built and filled up the Phase II trial in record-time, enabling SpringWorks to be able to spring into action with a Phase III trial to deliver treatments to patients who are in great need and without alternatives.

With the support of the DTRF’s efforts, there also will be two additional clinical trials on desmoid tumors in 2019. For a rare disease with an incidence rate of 5-6 per million, these are remarkable accomplishments.

For more information on The Desmoid Tumor Research Foundation please visit www.dtrf.org.

About The Desmoid Tumor Research Foundation

The DTRF was founded in 2005 with the mission of facilitating and funding desmoid tumor research and supporting patients with information. The mission of The Desmoid Tumor Research Foundation 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 improve the lives of patients through education, awareness and support. Every year the foundation has gained momentum in its progress and has seen new clinical trials, emerging therapies and important new discoveries about the disease come to fruition.

###