“To develop Grit, align with strong partners” With Marlene Portnoy and Phil Laboon

I had no scientific or medical background. I didn’t even know what a 501(c)3 was when we first began, or how to start a foundation or raise money! And though Jeanne was an attorney, she also lacked a medical background. I remember going to my first Connective Tissue Oncology Society (CTOS) meeting and I just started introducing myself to doctors. I was so happy when someone just shook my hand. I would never have believed that just a few years later we would be presenting at the CTOS meeting in Berlin to 1000 doctors and researchers!

I had the pleasure of interviewing Marlene Portnoy, who co-founded the Desmoid Tumor Research Foundation (DTRF) in 2005 after her husband was diagnosed with the rare disease. Marlene had no scientific or medical background when she began DTRF, whose mission is to aggressively fund research to accelerate the development of improved therapies, and ultimately find a cure for desmoid tumors. DTRF also raises awareness and provides support to patients and caregivers. Every year since its inception, the foundation has gained momentum in their progress including new clinical trials, emerging therapies, as well as helping to facilitate the recent groundbreaking study published in December’s issue of the New England Journal of Medicine.


Thank you so much for doing this with us! Can you tell us a story about what events have drawn you to this specific career path?

I co-founded the Desmoid Tumor Research Foundation due to the frustration I experienced with the lack of information available and the lack of research on this rare disease when my husband Steve was diagnosed with a desmoid tumor in 2004.

When I met my co-founder Jeanne Whiting in 2005, this rare disease was wreaking havoc on our lives. My husband, Steve, and Jeanne were each being treated for a desmoid tumor, which is an invasive mass that forms in connective tissue, frequently requiring surgery or systemic therapy and causing significant risk to vital organs. The disease can be fatal, and the rate of recurrence is high. Desmoid tumors are rare, affecting only two to four per million people. There is no known cure, and existing treatment options were only sporadically successful.

Jeanne and my husband had visited numerous medical professionals, tried multiple treatments, and experienced a grueling range of symptoms and complications. Frustrated by the lack of information about the disease and the struggle to find satisfactory answers, we bonded over our desire to make the desmoid tumor journey easier for ourselves and future patients. We quickly discovered that the lack of research on desmoid tumors was primarily due to an absence of funding sources, and that our efforts to find a cure would depend on us raising money to fund research. We founded the Desmoid Tumor Research Foundation (DTRF) “in our garages” in 2005, committing ourselves to a mission of financing hope for desmoid tumor patients and their loved ones.

Can you share your story of Grit and Success? First can you tell us a story about the hard times that you faced when you first started your journey?

I had no scientific or medical background. I didn’t even know what a 501(c)3 was when we first began, or how to start a foundation or raise money! And though Jeanne was an attorney, she also lacked a medical background. I remember going to my first Connective Tissue Oncology Society (CTOS) meeting and I just started introducing myself to doctors. I was so happy when someone just shook my hand. I would never have believed that just a few years later we would be presenting at the CTOS meeting in Berlin to 1000 doctors and researchers!

Where did you get the drive to continue even though things were so hard?

The love for my family, my husband Steven and our two young daughters at the time, Brittany and Danielle. We had no choice but to fight and do everything within our power to find effective treatment options.

So how did Grit lead to your eventual success? How did Grit turn things around?

When things get tough you have to dig in and do what you can to help make it better. There was such limited information available when my husband was diagnosed with the disease. We had no choice but to become our own advocates to really effect change and identify successful treatments.

That’s why in 2010, when we 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, we 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 begin 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. The foundation played a significant role in the recruitment for the trial, filling it in half the time expected.

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.

So, how are things going today?

There have been incredible strides made in terms of research and treatment for desmoid tumors. Due in large part to the foundation’s efforts, the first clinical study of its kind on desmoid tumors with groundbreaking results was just published in the December 20th issue of The New England Journal of Medicine. To date, there are no approved cancer drugs for desmoid tumors. The international Phase III study conducted by Memorial Sloan Kettering’s Dr. Mrinal Gounder, showed that patients treated with sorafenib reduced the risk of tumor growth or death by 7-fold. 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 a leading cause of death worldwide.

The foundation’s efforts also played a role in helping another investigational treatment that was “gathering dust” 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. DTRF helped to advocate for Nirogacestat because patients with desmoid tumors had limited treatment options and were living with little hope. 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.

Based on your experience, can you share 5 pieces of advice about how one can develop Grit? (Please share a story or example for each)

  1. Don’t be afraid of the unknown: Having no scientific or medical background didn’t deter Jeanne or me from forging ahead. We learned along the way and as a result have made great strides for desmoid tumor patients.
  2. Know your strengths and utilize them: Our foundation’s strength is our work in patient advocacy. Over the past decade we have amassed an extensive list of desmoid tumor patients which enabled us to fill the clinical trials in record time.
  3. Keep Pushing: When we heard of the promising results of the drug Nirogacestat we kept pushing, kept following up with Pfizer to do something with it, and eventually they heard us.
  4. Align with Strong Partners: My co-founder Jeanne Whiting and Memorial Sloan Kettering’s Dr. Mrinal Gounder all have a very clear mission — to find a cure for this disease.
  5. Mistakes are not failures, they are learning experiences! I have made many mistakes throughout the years but I do not let them get me down. I can only make decisions with the knowledge I had at the time.

None of us are able to achieve success without some help along the way. Is there a particular person who you are grateful towards who helped you when things were tough? Can you share a story about that?

When we first started the foundation, we did not have a fundraising plan to even get us off the ground. My friends sat me down and absolutely insisted on hosting a gala to get the foundation moving. It turned out to be an extremely successful event and allowed us to develop a website and spread awareness. I am so grateful for their continued support over the past 15 years. It has been quite a journey!

Are you working on any exciting new projects now? How do you think that will help people?

Yes, with the support of 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 2–4 per million, these are remarkable accomplishments.

We also host a Virtual Tumor Board where doctors from around the world present difficult cases to experts over the phone. The exchange of information has resulted in the alteration of treatment plans for many of their patients. We find this especially meaningful because many of these patients are in countries that do not have experienced desmoid physicians.

How can our readers follow you on social media?

https://www.facebook.com/Desmoid

https://twitter.com/DTRFoundation

Thank you so much for joining us. This was very inspirational.