Rare Disease Day at NIH: Advocacy’s Role in Advancing Rare Disease Research

During the National Institutes of Health (NIH) Rare Disease Day at NIH event, a panel was held titled “From Kitchen Tables to Changing Paradigms — Advocacy as a Driving Force in Advancing Progress in Rare Diseases Research.” The focus of this panel was a discussion of the increasing importance of advocacy in research and rare disease drug development. Unlike in more widespread health challenges, advocacy has become the norm for spurring research and therapy development.

This is partially explained by the inherently limited number of patients affected by a single rare disease. The limited customer pool means that drug companies do not see therapies for rare diseases as inherently profitable; however, with the introduction of legal frameworks such as the Orphan Drug Act, which provides incentives for developing rare disease medicines, companies can now profit handily from introducing and developing these treatments.

Nevertheless, funding and organization for new research, particularly for diseases that have seen very little study, is often left in the hands of advocates, which often include patients and their families. A number of speakers and advocates were included as part of the panel.

The first to speak was Lennie Woods, who is the Executive Director and Co-Founder of the organization Sara’s Cure, an advocacy group focused on a rare cancer called clear cell sarcoma. The organization is named for her daughter, who lives with this cancer.

“A lot of hospital visits, a lot of scans, and a lot of uncertainty and not knowing what’s going on…when the cancer came back, we realized that we had to take control and figure things out…there’s no approved treatment and little research.” – Lennie Woods

Jim Palma, the Executive Director of the TargetCancer Foundation, spoke next. Dedicated to supporting rare cancer patients and research, the organization was founded by Jim’s brother-in-law Paul, who was diagnosed with cholangiocarcinoma and died in 2009.

“Paul starting raising money and even wrote the first grant check from the hospital while he was being treated…we seek funding for basic research into rare cancers…we seek to develop basic tools such as mouse models and cell lines…in rare cancers, these often don’t exist at all.” – Jim Palma

Jeanne Whiting, Co-Founder of the Desmoid Tumor Research Foundation, was also surprised at the lack of resources when she was diagnosed with desmoid tumor. With only 900 patients diagnosed annually, the treatments being used were inconsistent in their effect.

“Our mission is to aggressively fund research in order to accelerate and improve therapies and ultimately to find a cure for desmoid tumors…early on we established our scientific and medical advisory boards, which have been key to our success.” – Jeanne Whiting

Timothy Babich is the Director and Co-Founder of the RUNX1 Research Program. Mutations affecting this gene increase the risk of blood cancers, such as leukemia, by around 50 percent. Increasing patient involvement in research is one of their main goals for 2021, and they have also helped establish consortiums for data sharing in the US and Europe.

“Our goal is to develop a remote database where patients can submit blood samples…we want our first priority to be research since this disease is very underdiagnosed…many patients like myself are unaware of the mutation until the get leukemia.” – Timothy Babich

Josh Sommer, Co-Founder and Executive Director of the Chordoma Foundation, was diagnosed with chordoma when he was in college. At that time, this rare cancer was ultimately fatal. Remarkably, some of the only research in chordoma was happening at Duke University, where he was attending school. Josh got involved, but resources for the science were limited. This was what drove him to establish the foundation and work as an advocate.

“I’ve been heartened to see our small, kitchen table operations snowball into a community of thousands of patients and families…we’ve been able to erase those earlier resource shortages for research. We’ve had twelve clinical trials start in the last decade.” – Josh Sommer

Dr. Eric J. Sherman is a medical oncologist at the Memorial Sloan Kettering Cancer Center. His main area of research is thyroid cancer. While this cancer is not lethal in most cases, there are still a small number that die from it, and this is his main concern. Since the patient population is so small, funding for studies is a major hurdle.

“We wanted to do a study on Hurthle call carcinoma, but it really wasn’t looking like we could complete it…we reached out to an advocacy group that was started by a patient..” – Eric Sherman

There’s a pretty clear pattern here in all these panelists’ stories: many of them are patients or are family members of patients who single-handedly helped spearhead research by establishing a cohesive patient community that could fundraise for research. Often there was little to no established research record or progress towards treatment being made beforehand. While there is so much to be done when it comes to research and improving outcomes in rare disease, the vast majority of the progress that has been seen so far can be tied back to the dedication of patients and their families who commit themselves to improving outcomes for others and building community.

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