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The Desmoid Tumor Research Foundation

Reflections From Jeanne Whiting, Our Retiring Executive Director And DTRF’s Co-Founder

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As a co-founder of The Desmoid Tumor Research Foundation, it is with very poignant emotions that I announce my upcoming retirement at the end of 2023. This foundation has been a life’s work of passion and purpose for me.

When I was diagnosed with a retroperitoneal desmoid tumor over 20 years ago, there were no established treatment protocols, few existing treatments which were only sporadically effective, and very little research on these tumors. Under those circumstances, dealing with this rare disease was a terrifying prospect that led me and my co-founder, Marlene Portnoy, to start DTRF with goals to fund research and support patients and doctors with information.

How positively moving and inspirational it is to know that this year we have the SpringWorks drug nirogacestat under final review for approval at the FDA. The prospect of having the first drug approved for this rare disease is a milestone worthy of cheers and celebration! It is a breakthrough that we could only have dreamed of when we started the DTRF!

We continue to support additional clinical trials of innovative systemic medical treatments and localized treatments. The recognition of desmoid tumors as an important focus of research was made clear as desmoid tumors were highlighted as “Sarcoma of the Year” at the 2022 Connective Tissue Oncology Society conference. Awareness was also expanded when the DTRF was honored with two prestigious awards for leadership and advocacy in 2021 by the National Organization of Rare Disorders (NORD) and Global Genes.

I am thrilled with all of the milestones we’ve achieved to date as we have advanced research and expanded education and support for patients and medical professionals. Breakthroughs have included: the DTRF’s annual International Research Workshops and Patient Meetings, the Global Consensus Paper and Virtual Tumor Board that help doctors and patients around the world, the development of publicly available desmoid cell lines and other models for research, the Patient Reported Outcomes (PRO) tool, the Patient Registry and Natural History Study, the approval of new ICD-10-CM diagnosis codes specific to desmoid tumors, and others too numerous to name.

I extend deep appreciation to our DTRF staff and Board of Directors, and all who have helped DTRF in our almost two decades of work. Our Medical and Scientific Advisory Boards are supportive at every turn. Industry colleagues have collaborated with us in bringing about new clinical trials toward new treatments. And donors and fundraisers have helped us fund over $5,000,000 in research grants through the years.

After more than 18 years with the DTRF, I will be moving to emeritus status as of Nov 1, and retiring at the end of 2023, passing the Executive Director title and baton to Lynne Hernandez. I am excited for Lynne, who has worked with the Foundation for almost a decade as our Operations Director. I know she will capably carry the baton as Executive Director with great enthusiasm, boosted by her love for patients. The future of the DTRF is extremely bright, and the possibilities for better outcomes for our patients have never been greater.

Retirement will be the end of a very fulfilling era for me, but only the beginning of accelerated progress for the DTRF as we continue the undaunted quest for a cure for each and every desmoid tumor patient.

With deep gratitude to all, and unwavering hope for the future,

Jeanne Whiting
Executive Director and Co-founder
The Desmoid Tumor Research Foundation
jeanne@dtrf.org

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(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.

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

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Today is the final day of Desmoid Tumor Awareness Month 2023!

Over the last month, we have shared stories from #DesmoidWarriors around the globe at different stages in their journeys with different perspectives on managing life with these rare tumors. Thank you to all of the patients who submitted their stories, and to all who shared them across social media. You have helped raise #DesmoidAwareness!

If you are living with this disease, please know you are not alone in this fight. We encourage you to explore our Patient & Caregiver Resources.

In case you missed them, recordings of our special Desmoid Tumor Awareness Month Facebook LIVE stream events are available:

You can help raise #DesmoidAwareness year-round by talking about your desmoid tumor journey to family and friends, as well as your physicians, and raising funds for desmoid tumor research around special occasions like birthdays, diagnosis anniversaries, holidays, and more. Start a Facebook fundraiser with one click or learn about other Fundraising options.

Stay up to date with the latest in desmoid tumor-related news from the DTRF by favoriting us on Facebook, following us on X @dtrfoundation and Instagram @dtrfoundation, and by signing up for our emails.

Thank you for making a difference this September!

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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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The annual DTRF Together We Will Weekend is September 22-24! We hope you’re already making plans to be there with us in Philadelphia, but just in case you need a little convincing, here are the top 5 reasons to attend!

1. To connect.

Patients often say that the moment they first met another desmoid tumor patient in person is the moment they stopped feeling alone.

When you attend the annual DTRF Together We Will Weekend, you will meet other desmoid tumor patients (perhaps for the very first time), connect more deeply with those you already know, and/or be the veteran patient that shares your experience and wisdom with someone newly diagnosed. Whatever your circumstances, these personal connections are invaluable and can make this journey a little easier.

This is the largest annual gathering of desmoid tumor patients in the world. Be a part of this foundational weekend!

2. To be part of something bigger.

Every attendee arrives with one significant thing in common: first-hand, personal experience with desmoid tumors. So, even if you come by yourself and you’re not an extrovert, it’s easy to connect with others quickly and naturally build your community of support.

Stickers colored to represent the location of your tumors are available to add to your name tag, making it simple to find others with a similar experience. The DTRF Together We Will Weekend is a warm and welcoming space for all affected by this rare disease and the perfect place to get to know your community!

This year, fostering collaboration between our patients/caregivers and our desmoid tumor experts is a top priority, because we all have the same goal of working together to improve outcomes and eventually find a cure for desmoid tumors. It will take every facet of our community to reach that goal, so let’s connect, collaborate and learn from each other!

3. To empower yourself.

Being your own best advocate means staying abreast of the latest advancements in desmoid tumor research and treatments.

The experts attending the DTRF Together We Will Weekend present on new research, promising medical therapies, upcoming clinical trials, and brand new therapeutic options, often months, sometimes years, before they become widely known in the field. Desmoid tumor research is advancing every single year and therefore no annual event is alike.

Gain the knowledge you need to ask the right questions, become aware of cutting-edge research to share with your physicians back home, and make informed future treatment decisions.

4. To learn and share.

Our distinguished speakers are leaders in the field of desmoid tumors and their presentations aim to deliver the most updated information on research, potential treatments and ways to help our community find answers.

Cryoablation, HIFU, Nexavar, nirogacestat (SpringWorks Therapeutics’ gamma-secretase inhibitor), and AL102 (Ayala Pharmaceuticals’ gamma-secretase inhibitor) were all presented at DTRF Patient Meetings months, in some cases years, before becoming widely known in the field.

One of the best ways a patient can ensure proper treatment is by staying up to date on the research and advancements in the field. Patients often feel more confident making difficult treatment decisions when they can also consider what is on the horizon.

During DTRF Together We Will Weekend, the learning flows both ways. The weekend is structured as an ongoing conversation between experts and patients, an information exchange that benefits our entire community. This is your chance to ask some of the top physicians and researchers your questions in person and share your unique desmoid tumor experience.

5. To celebrate our community, raise awareness and have fun at the RFA 5K Run & Walk!

Now that we are meeting in person again (finally), our annual weekend will culminate with the RFA 5K Run & Walk. Don’t let the name fool you, we welcome ALL types of participation. Our accessible course in beautiful Fairmount Park, Philadelphia provides the perfect backdrop for a day of fun and celebration. Even some of our medical and industry partners are bringing teams this year! Yes, the kids’ Fun Run will be back too! Click here to register for RFA.

Can I still fundraise?

Absolutely! Just like the “virtual” years after Covid, you have the option to create a personal fundraiser to encourage giving. Click here to register for RFA, share your challenge with your friends and family, and join our RFA Champions Chat on Facebook to connect with other Champions who are fundraising virtually. The RFA awards ceremony on 9/24 will be live streamed from Philadelphia–virtual fundraisers are included!

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DTRF Co-founders Jeanne Whiting and Marlene Portnoy are quoted in an article published by the National Cancer Institute (NCI) on May 1, 2023. Titled, “Nirogacestat May Offer Hope to People with Desmoid Tumors,” by Linda Wang, the article outlines outlines nirogacestat’s impact on desmoid tumors and the NCI’s role in launching a phase 2 study of the drug.

Positive results of the phase 3 DeFi trial allowed SpringWorks Therapeutics to submit a New Drug Application (NDA) for nirogacestat in adults with desmoid tumors, currently under review by the FDA.

Read more here: https://www.cancer.gov/news-events/cancer-currents-blog/2023/nirogacestat-shrinks-desmoid-tumors