The Desmoid Tumor Research Foundation
Access the plain langauge summary of the DeFi study, published in The New England Journal of Medicine in March 2023.
In the DeFi study, researchers were studying if the drug called nirogacestat (Ogsiveo®) could slow disease progression and improve disease symptoms. The study included 142 adults with progressing desmoid tumors.
Read Full Plain Language Summary
We need everyone’s help to protect critical funding for desmoid tumor research. This call-to-action is for anyone reading this message, whether you are a patient, clinician, or caregiver.
A few weeks ago, the National Institutes of Health (NIH) announced a major change: they plan to reduce the rate for “indirect costs” to 15% for all new and existing NIH contract awards. Indirect costs are essential to supporting the infrastructure that enables scientific research.
The decision has already been met with strong opposition, and multiple states have filed lawsuits challenging this decision. In addition, we have now heard from a number of the DTRF advisory board members asking for our help in mobilizing the desmoid tumor community. If this policy change is enacted, it can directly affect researchers studying desmoid tumors and it can significantly hinder the progress of our research efforts.
Please urge your Senators and members of Congress to oppose the recent Executive Order to cut NIH indirect costs.
The NIH is the world’s largest funder of biomedical research. If enacted, the Executive Order would cut tens of millions of dollars in essential support services to scientists and clinicians who are driving scientific discovery.
Congress needs to hear from you TODAY on how cuts to NIH research impact you.
“Hello, my name is [YOUR NAME], and I am a rare disease advocate from [YOUR CITY, STATE]. I am deeply concerned about the decision to cut NIH funding, which will severely impact rare disease research and would impact my [SELF, CHILD, FAMILY MEMBER, FRIEND, ETC].
These cuts will prevent the research that could lead to treatments and a cure for Americans living with desmoid tumors. I urge [SENATOR/REPRESENTATIVE NAME] to support full NIH funding and reverse these harmful cuts. Thank you for your time and commitment to medical research.“
You can also download the 5 Calls app to make this call-to-action even easier. Follow the steps on the app to connect with your Senators and members of Congress.
Every call makes a difference! Please share this message with your networks and help us ensure that desmoid tumor research continues to receive the support it needs.
In the meantime, we will remain committed to our work of accelerating desmoid tumor research and supporting the patient community.
Dear DTRF Desmoid Tumor Patient Registry Participants,
Thank you for your ongoing contributions to the DTRF Patient Registry. We are excited to tell you that NORD®, the host of the registry, has upgraded to a new version of the IAMRARE® platform. We have been working with NORD to migrate the DTRF Patient Registry to the new platform, and this process is nearing completion. The data you have already contributed to the Registry will be transferred to this new platform automatically. Once the migration process is complete, you will receive an email that will describe the steps you need to take to access the new platform.
To complete the migration, we will need to pause access to our registry beginning on February 10th, 2025. You will not be able to access the platform or complete surveys during this time.
As part of migration, we have updated our study documents including the Informed Consent document you previously signed. These are the changes that we wish to make you aware of:
We have attached the new consent form to this letter for you to review. If you would like to speak with someone from our team to answer any questions, please let us know at registry@dtrf.org. If you wish to reconsider your willingness to take part in the study, please let us know at registry@dtrf.org.
Please feel free to reach out with any study-related questions or to discuss any concerns.
Sincerely,
The Desmoid Tumor Research Foundation Team
DTRF Patient Registry Consent Forms:
Adult Consent for Study Participants over age 18
In recent months, the DTRF learned from patients that the 50mg tablet of Ogsiveo® (nirogacestat) will no longer be available after 2024. The DTRF contacted SpringWorks Therapeutics to advocate for patients who are currently receiving the 50mg tablet.
Last week, the SpringWorks Therapeutics team confirmed that the 50mg tablet of Ogsiveo® will, in fact, no longer be available as of January 1, 2025.
New blister packs are available for the FDA-approved 100mg and 150mg doses of Ogsiveo®. Click here to read the statement SpringWorks provided to the DTRF.
The DTRF advises that patients talk to their physician, pharmacist, or other trusted medical team member with any questions. Medical professionals are encouraged to reach out to the SpringWorks Medical Information team on behalf of their patients to receive answers to questions regarding this change.
Follow the steps below with the help of your medical team to receive the most timely and accurate Ogsiveo® information:
Please note: Only medical professionals, including physicians, pharmacists, or other medical team members, are permitted to discuss Ogsiveo® dosage questions or concerns with the SpringWorks Medical Information team.
If you are a desmoid tumor patient needing educational, emotional, or financial support and resources while taking Ogsiveo®, you can connect directly with SpringWorks CareConnections™.
If you’ve been impacted by the 50mg tablet no longer being available, please contact the DTRF at info@dtrf.org to share your experience and help us continue advocating for desmoid tumor patients.
A revision to the global consensus paper on desmoid tumor management has been published thanks to the hard work and collaboration of an international group of physicians, scientists, and patient advocates (collectively known as “The Desmoid Tumor Working Group”). Peter Hohenberger, MD, PhD, Bernd Kasper, MD, PhD, and Alessandro Gronchi, MD, led the group on this project.
By evaluating existing evidence from prior scientific publications, and incorporating the input of desmoid experts worldwide, the paper is a revised and updated evidence-based consensus on the management of desmoid tumors. It answers critical questions regarding approach to treatment recommendations, types of treatments, and pain management.
As there are varying treatments used for desmoid tumors and access to medical therapies and information greatly varies by country, many patients are treated based on the experience and expertise of a single physician which may be limited. DTRF has made it a priority to improve this situation by supporting the revision of this collaborative paper. The paper is, in part, the result of a 2023 DTRF grant, entitled “An evidence-based 2nd consensus on the treatment for desmoid tumors.”
Currently, the paper is only accessible through JAMA Oncology with a subscription. A full version of the paper will be accessible after one year.
Patient guidelines will be developed and shared with the community as soon as they are published.
Current Management of Desmoid Tumors: A Review
The Desmoid Tumor Working Group led by Bernd Kasper, MD, PhD, and Alessandro Gronchi, MD
(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 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
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.
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
Maggie Cameron
Communications Manager, DTRF
Maggie@DTRF.org
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