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The Desmoid Tumor Research Foundation

Note to DTRF Patient Registry Participants re: Migration to New Platform

Research

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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:

  1. We are now more specific about different levels of data use requests that the DTRF Patient Registry may receive from researchers. The levels are based on how much and how detailed the information needs to be for them to answer their research question(s). We also provide an explanation for the process involved in determining whether the requests should be approved and what level of data should be provided. The details of this are explained in the section called How We Use the Data.
  2. We indicate in the section called If You Live Outside the United States that the servers that store the data are now located in Canada.
  3. During registration for the platform, we are collecting information to be able to create a Global Unique Identifier for each participant. The goal of this identifier is to allow the combination of different data sets without having to share your name or other personal information.
  4. The original consent that you signed stated that if you were to choose to withdraw from the study, then the policy was that the participant’s information would not be used for new research. This has been changed in the new consent and is included in the section on Voluntary Participation, Withdrawal and Alternative to Participating. The main difference is that you now have a choice: 1) you withdraw from the study and you will not provide any new information, but the information already included can be used for ongoing and new research, or 2) you withdraw from the study and request that your information is removed from the platform and not used in new research. If you wish to withdraw your consent, please reach out to us and inform us of which option you are choosing.

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

Consent for a person with a Legally Authorized Representative (LAR) who is unable to consent for him or herself

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Thank you to our global desmoid tumor community of patients, caregivers, researchers, and medical professionals who traveled to Houston and participated in the DTRF Together We Will Weekend. It was wonderful to connect with everyone in person in a brand new city! We are grateful to our platinum event sponsor, SpringWorks Therapeutics, for making the Weekend possible.

Together we advanced research, connected with each other, empowered ourselves, and fundraised for a cure, while celebrating our community and Desmoid Tumor Awareness Month!

  • September 20, 2024 – DTRF International Desmoid Tumor Research Workshop: Dedicated clinicians and researchers from around the world attended the Int’l Desmoid Tumor Research Workshop, presenting the latest desmoid tumor science and research advances. We’re honored to host this essential collaborative meeting each year, which helps steer the direction of desmoid tumor research and the Foundation’s funding priorities. Learn more about the annual DTRF International Desmoid Tumor Research Workshop.
  • September 21, 2024 – DTRF Patient Meeting: At the heart of our annual Weekend, patients, caregivers, clinicians, and researchers gathered to connect, collaborate and learn. Presentations on research, treatments, and a special presentation on the patient experience. Recordings of these educational events (including live Q&A) are available on our Patient Meeting Presentations page.
  • September 22, 2024 – 2024 RFA Walk: Our community gathered together in person at the Houston Zoo and fundraised virtually around the world. Together, more than $55,000 was raised for desmoid tumor research! 

The work continues to find better treatments and, one day, a cure for each and every desmoid tumor patient. Once again, on behalf of the DTRF team, THANK YOU!

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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

Access Global Consensus Paper

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Desmoid tumors and the DTRF made the spotlight at the 2024 Annual Meeting for the American Society of Clinical Oncology (ASCO) in Chicago on Saturday. DTRF Executive Director Lynne Hernandez served as a faculty member this year at an educational session entitled “Leveraging Successful Partnerships to Improve Global Health Outcomes.”

Her talk focused on the critical role of patient advocacy organizations in building relationships between patients and physicians. The Foundation is grateful to our community of stakeholders— especially patients and doctors— for trusting us to serve as advocates in the space.

We thank ASCO, along with session chair Dr. Matias Chacon from IAF (Instituto Alexander Fleming) and SELNET and Denisse Evans from The Life Raft Group for their collaboration on this important session.

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(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

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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).