Give for Tomorrow: Marcia’s Story and the Promise of More Treatments

Marcia Miller's story is a testament to resilience, advocacy, and enduring hope for better treatments for people with neurofibromatosis and schwannomatosis (collectively referred to as NF). Born with neurofibromatosis type 1 (NF1), Marcia has lived with the visible and physical challenges of NF manifestations for over 70 years. Yet, she has turned her experiences into a powerful voice for awareness and change.

As a young woman, Marcia struggled with disfigurement caused by NF1, often enduring stares and cruel misunderstandings. As she says in the video at the bottom of this article, "When I was eight months old, they removed my eye and then from there on, every so often, the doctors there would do surgery to try to compensate for the disfigurement that NF caused."

Despite these challenges, Marcia found a sense of belonging when she connected with the NF community in her 30s. "It was the first time I met others who looked like me," she says. This connection ignited her passion for advocacy, leading her to spearhead fundraisers, attend awareness walks, and champion the importance of research.

Marcia's connection to NF is deeply personal. Her daughter Monica, a beloved childcare administrator and teacher, also lived with NF. Tragically, Monica passed away ten years ago, at age 38, due to a brain tumor caused by NF. Now, Marcia finds strength in supporting her granddaughter, who also lives with NF. Despite her losses, Marcia remains committed to raising awareness and supporting others in the NF community.

One of Marcia's hopes has long been a treatment for plexiform neurofibromas-complex, painful tumors that significantly affect quality of life. Currently, the only FDA-approved treatment for these tumors is Koselugo (selumetinib), which is currently approved only for children. For adults like Marcia, options have been limited.

But now, a breakthrough is on the horizon.

FDA Priority Review for Mirdametinib: A Major Milestone

The Children's Tumor Foundation (CTF) is thrilled that our long-time partner, SpringWorks Therapeutics, received FDA Priority Review for mirdametinib, a potential new treatment for NF1-associated plexiform neurofibromas. This marks a significant milestone for patients, particularly adults like Marcia, who currently lack approved therapies.

Mirdametinib, an investigational MEK inhibitor drug, showed exceptional promise in clinical trials. The Phase 2b ReNeu trial demonstrated that 52% of pediatric patients and 41% of adult patients achieved a significant reduction in tumor size. Beyond tumor shrinkage, patients also reported improvements in pain, quality of life, and physical functioning-key indicators of how this therapy could transform lives.

"Plexiform neurofibromas may sit next to or surround vital organs and can cause serious medical complications for patients," said Annette Bakker, PhD, Chief Executive Officer of CTF and Board Chair of CTF Europe. "While progress has been made, there remains a pressing need for more treatment options, particularly for adults who currently have no approved therapy. We are thrilled that patients in the United States and Europe could soon have a new therapy available to them."

CTF's Role in Pioneering Progress

SpringWorks Therapeutics, the company behind mirdametinib, owes its formation to the Children's Tumor Foundation. CTF drove the drug repositioning strategy that led to SpringWorks' spin-off from Pfizer, which brought mirdametinib to this point. This collaboration reflects CTF's commitment to accelerating new treatments and ensuring that patients have access to the therapies they need.

"CTF is dedicated to deploying its time, talent, and funding towards accelerating the development of new treatments," Dr. Bakker added. "We congratulate our long-term partner, SpringWorks, and are very excited to see the first drug repositioning program come so far for NF."

A Brighter Future for Marcia and Others

For Marcia, this progress represents something she's been waiting for her entire life. "It's incredible to think that adults like me might finally have a treatment option," she says. "I'm just so proud of how far the NF community has come, and I feel hopeful for the next generation-like my granddaughter-who might not have to struggle the way I did."

With FDA Priority Review underway, mirdametinib is moving closer to becoming a reality for patients. The Children's Tumor Foundation and SpringWorks Therapeutics are leading the charge in transforming the landscape of NF treatment, proving that collaboration and determination can yield extraordinary results.

This continued progress in our fight against NF is thanks to donors like you. Please join us in giving today to ensure that adults with all types of NF find the quality care and treatment options they deserve.

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