For children with rare cancers, a surge of research to find new treatments: Shots

Whenever she asked the doctors about the size of her son's right thumb, Kim Webb heard a similar response: "No matter, take care of it every time."

They were wrong.

Last January – after the size doubled in volume, prompting surgery to remove it – the doctor phoned Sunday night to make a diagnosis: epithelioid sarcoma, a slow-growing soft tissue cancer.

"It was the worst day of my life," said Webb, a mother of two from Huntington Beach, California. "I sat in my car, cried and cried with disbelief."

After a blurry of tests and scans in the month following the diagnosis, Connor, 16, of Webb, is having surgery again – this time for a complete resection of the tumor and some tissue surrounding to avoid a recurrence. He resumed the use of his thumb and, from July, CT scans and MRIs show no signs of illness. "We are very lucky," says Webb.

But epithelioid sarcoma has an ugly secret. This cancer often comes back later, even decades later. And when he comes back, he grows up aggressively and there are no drugs to stop him. Webb realized that she had to continue to seek a cure. "We are never in a vacuum," she says.

Epithelioid sarcoma is extremely rare – estimates vary but do not exceed more than 100 cases per year. Of these, 10% occur in children and adolescents.

For this cancer and many other rare cancers in children, it takes a long time to find enough patients to test new treatments. Even worse, the small number of patients reduces the motivation to allocate resources to study diseases and develop potential drugs. Dozens of childhood cancers fall into this category, with some being so rare that few pediatric oncologists have heard of it.

For families like Webbs, whose cancers are not the subject of approved treatments other than surgery, radiation and chemotherapy, one may have the impression that they can hardly do anything to their children. But some of these families have found a new ally in their fight: the Children's Cancer Therapy Development Institute, or cc-TDI, a nonprofit biotechnology lab that brings families and researchers together to advance the project.

Bridging a research deficit

In 2016, the "Creating Hope" law created incentives for the industry to invest in rare diseases of the child. But pediatric cancers offer little money for investing in drug development compared to breast or colon cancer, for example, where the number of patients reaches "hundreds of thousands, rather than hundreds," explains Jim Geller, oncologist at Cincinnati Children's Hospital.

As there are so few cases, "trials can not be conducted quickly, and you can not conduct multiple trials on the same disease as easily as in adult cancer," he says. And so few new treatments are in preparation. This means that families can find themselves very quickly short of options when their children get sick.

Since 1978, the Food and Drug Administration has approved only six cancer drugs in children, while it approved dozens per year for the most common cancers that affect adults.

For many families facing rare cancer, nothing beats the desperation to feed the action. Some pharmaceutical companies solicit calls from doctors and doctors across the country, praying to try newly approved therapies.

The Children's Cancer Therapy Development Institute, located on the outskirts of Portland, Oregon, takes a more coordinated approach, which directs families' desperation to silently transform cancer research into the child. Less than three years after the Institute began operating in a remodeled paint plant in Beaverton, Oregon, it has been pushing new drug candidates into three clinical trials.

The Institute was created to help fill what the founder, Dr. Charles Keller, calls the "preclinical fracture" in childhood cancer research: potential drugs languish in laboratory freezers as scientists do not are not encouraged to do the painstaking experiments needed to turn promising laboratory results into viable solutions. compounds for drug testing.

"All documents and grants around the world mean nothing if we can not introduce drugs into clinical trials," says Keller, an expert in the biology of child sarcomas, who has stepped down from his professorship at Oregon Health & Science University in 2014. to start cc-TDI. "We used our relationships with families to restart a broken cycle."

The Institute is equipping small armies with parents to help shape the research agenda by sharing their knowledge gained from their direct experience of these diseases. "The more you talk to people, the more you realize that they have ideas," Keller said. "They want a way to participate."

One of the ways families are participating in cc-TDI's work is to attend its "nanocourse" on pediatric cancer – an intensive one-week course offered every summer to families, students and other lay people for that they can learn from experts from all over the world, scientists from the laboratory, collaborate with other participants to think about the way to heal and publish these plans in peer-reviewed journals .

Participants leave the nanocourse equipped to raise funds, educate their communities and help organize tumor tissue donations to laboratories capable of creating cell cultures and mouse models. The Institute runs its own program, called CuRe-FAST, allowing families to provide tumor samples to a registry accessible to scientists around the world.

The Institute's patient-centric approach combines the rigor of a university lab with the flexibility of a start-up. Instead of relying on academic grants that require scientists to apply funding to specific research programs, cc-TDI receives funds from foundations and other philanthropic sources that are not subject to such restrictions. This allows the search to move with agility: "go with what works and rotate from what does not work," says Keller.

And the families with whom the Institute works are often essential to obtain this funding.

Only 4% of public funds for cancer research are devoted to the study of cancers in children. "Many good ideas die in the head because there is no money," said Geller of the Cincinnati Children 's Hospital. Foundations can help by providing beginning scientists with pilot funding for a few years of data that will help them compete for larger government grants.

"Many foundations are created by parents," says Geller. "And the finances they provide are incredibly significant."

Last year, more than half of the $ 1.9 million cc-TDI budget came from foundations.

Learn to be lawyers

For Webb, attending a course at cc-TDI has allowed him to acquire new knowledge and a new network. A few days after his son's cancer call, desperate for new information, Webb had joined two Facebook groups dedicated to epithelioid sarcoma.

"I had to research everything – I needed to understand what was going to help my son – but that's not my area," says Webb, who has not studied science since. the high school. "And then I'm like, where am I going?"

One of these groups was created by Andy Woods, a tile contractor from Montana, whose 11-year-old daughter was diagnosed with a serious Wilms tumor, kidney cancer in children. Woods had become active in researching and sharing information about other rare cancers. Through Facebook posts and a frenzy of texting, he has taught a lot to Webb and has finally connected to cc-TDI, where he works now.

Webb brought together three other families to join her during this summer's nanocourse, devoted to hepatoblastoma and epithelioid sarcoma (EpS).

The EpS families came out of the week equipped to carry out a common mission: better treatments for epithelioid sarcoma and, ultimately, a cure.

"In a week at cc-TDI, I learned more about epithelioid sarcoma and other rare cancers than in the 2.5 years since my son's diagnosis," wrote Jill Cook, a mother from central Iowa in an email.

Since nanoscale, EpS families have set up a fundraising platform, created a research-driven Facebook group, and hold weekly conference calls to create a website. More importantly, they found themselves.

"We were all alone, how can you defeat something like that – do some research on a rare cancer – when you're alone?" Webb says. "But now, from this course, we can train our army.It is the most important thing."

Esther Landhuis is an independent science journalist in the San Francisco Bay Area. Follow her on Twitter @elandhuis.