HUNTERSVILLE – In late September 2015 in Huntersville, at a small public forum following a benefit 5K to raise money and awareness about mysterious cases of ocular melanoma (OM), Dr. Takami Sato leaned over during a casual conversation and softly said, “Something’s not right here.”

Sato was director of the Metastatic Uveal Melanoma Program at Thomas Jefferson University Hospital in Philadelphia and a recognized expert in a rare cancer that statistically impacts about six people per million in the U.S. and Europe. He was in Huntersville because he had treated two young women – Kenan Colbert Koll and Meredith Legg Stapleton – who were both from Huntersville and died as a result of the cancer in 2014. They were both in their 20s, more than 30 years younger than most OM patients.

Sato’s visit, accompanied by new associate Dr. Marlana Orloff, and the benefit 5K were milestones in a long-running patient- and family-driven effort to draw attention to the statistically high number of OM cases in the north Mecklenburg area.

From that point, in a slower-than-desired but methodical evolution, the effort to learn more has continued. Orloff, who at the Ocular Melanoma Patient and Caregiver Symposium held earlier this month in Durham said he “didn’t know ocular melanoma would be my career,” has remained at the forefront of the effort.

As a featured speaker at the event, Orloff acknowledged she never had the chance to meet Kenan and Meredith. They died before her participation began. But in her work with Sato, the girls remain present.

“He says it’s their memory, a constant reminder,” Orloff told the audience at the symposium. “He said, ‘I promised their parents.’ It’s what keeps this going.”

And she added, referencing the Huntersville-area cases, “We’ve always known something is going on.”

And the determination to learn more – not just about the local cases and another outbreak linked to Auburn, Ala., but about the basic nature of the cancer itself – has led to connections to other doctors and groups with similar goals and an expanding research effort with strong ties to the north Mecklenburg region.

Genome project at Columbia

In the Huntersville area, due to a relentless effort by patients, families and volunteers, the search for answers has continued. An effort spearheaded by Dr. Michael Brennan, a retired ophthalmologist from Burlington, has resulted in the compilation of data about the local patients.

Brennan, who was asked by a friend to look into the matter in 2015 and still often repeats the “too many, too young” description of local patients as the reason he has stayed engaged, has spread the word about Huntersville-area cases at medical conferences around the world. He also helped link efforts of medical researchers and provided the town with a recommended outline of research steps to take using a $100,000 state grant.

A portion of that research money is being contributed to a significant tissue analysis project in progress at Columbia University in New York. At the recent symposium, Dr. Richard Carvajal and Dr. Jessica Yang provided updates on that project.

Carvajal, a medical oncologist and the director of experimental therapeutics and melanoma service at Columbia, is supervising the extensive research project designed to detect potential similarities in OM tumors, which could be a monumental step toward better detection and treatment.

He is also connected to clinical trials investigating treatment options.

At the symposium, Carvajal acknowledged progress is slow, and can be frustrating. But he referenced achievements in skin cancer treatment over the last decade as an example of what can be achieved.

“Ten to 12 years ago with skin cancer, the landscape we were dealing with was so different,” he said. “But with coordination within the medical research community we have made major advancements.

“All of us want to be in a better place with uveal melanoma, but I believe we will get there, like we did with skin cancer.”

Yang, a medical oncology fellow at Columbia, is directly involved in the tumor analysis and genome sequencing project.

She said the basic approach involves studying pieces from tumors – tissue from seven north Mecklenburg patients is included in the study. Mutations, Yang said, can lead to cancer, and similarities detected in those mutations could provide insight into why a cancer develops in one person and not in another.

The ways cells react and the way mutations evolve could all be pathways to better detection and treatment, she said. But identifying shared mutations, trends, responses and more in genome sequences involving billions of indicators takes time.

“It’s kind of like assembling a jigsaw puzzle,” Yang said.

But she added that she expects to begin collecting findings to report in about two months, and also expects analysis of Huntersville-area patients and patients in the Auburn study group – that lab work is being conducted in Miami – to be valuable.

“We are looking to find links between patients,” Yang said. “It will be educational to compare samples from Huntersville and Auburn.”

Carvajal added that it’s hard to detect just a small number of genetic traits, or a few mutations that could provide clues for cancer. But he emphasized progress is occurring.

“It’s happening, just not as much or as quickly as we want it to.”

Emphasis on continued research

Dr. Miguel Materin, an internationally recognized ocular oncologist who heads the Duke Eye Center at Duke University, also spoke at the symposium about the importance of continued research.

Materin, directly familiar with the Huntersville-area cases and debates about the best research path to take, said a comprehensive approach provides the best information.

“It involves multi-faceted research, investigation and collaboration between areas of expertise,” Materin said. “And we’re working on it.”

He added all types of data could be valuable.

“It’s important to understand it includes environmental and genetic testing,” Materin said. “And I want to be clear, it’s not ‘versus,’ it’s ‘and’ when it comes to those areas.”

Orloff said the work to learn more is constantly evolving, with the number of clinical trials expanding and more researchers joining the effort. And she also acknowledged that even if a final ultimate answer is not discovered, the compilation of more data about the cancer will be valuable.

“We understand there is a large chance we will not find anything,” Orloff said. “People ask, ‘Why haven’t you found a smoking gun?’ We don’t know what the gun looks like. We don’t know there is a gun.”

It takes time, she added, admitting it can be a frustrating. But compiling all the information possible and comparing findings are part of the process. And the unchanging goal remains identifying a process that helps patients.

“There are challenges to creating targeted treatments,” she said. “But when you get it right, you can really make a difference.”

Registry vital for OM progress

From the outset of her involvement in efforts to learn more about OM and its statistically high occurrence rate in north Mecklenburg, Orloff highlighted an enhanced registry of patients as a fundamental piece of a coordinated and comprehensive research effort.

In 2015, the first time Orloff visited Huntersville, she said the lack of basic information about the disease and who it impacts was a monumental obstacle to identifying a cause, targeting research and mapping out treatments.

It was the same conclusion Dr. Sara Selig reached nine years earlier in Colorado when  her husband Gregg was diagnosed with the rare eye cancer that would claim his life four years later. Selig, who joined the Melanoma Research Foundation in 2011 and is the co-founder and director of the CURE OM initiative, is now part of a growing network of doctors and researchers pushing for development of a thorough compilation of OM patient data to enhance research efforts around the world.

Carvajal, a leader in the search for OM treatments, underscored the importance of an enhanced registry in comments at the symposium.

“We want to know how many patients have this disease; we don’t know that now,” Carvajal said. “It’s a very rare disease and we have very little data.”

Ashley McCrary, representing OM patients with ties to Auburn, said a registry would also make it easier to identify links between patients. “We had issues with patients being placed in the right location,” McCrary said of her experience compiling information.

Selig said a better registry was discussed for years, crediting a presentation by north Mecklenburg OM patient Summer Heath at a 2016 OM conference as a turning point in transforming the registry into a priority.

“That was the straw that broke the camel’s back,” Selig said.

Multiple speakers at the most recent symposium said a registry would provide “real world data” valuable to researchers searching for links between patients and cases.

Selig said the process takes “time and energy” and can be very expensive, but the CURE OM group is making progress. The goal is to create a format that allows patients and doctors to enter information from all over the world.

“It will provide a picture of the OM community as a whole,” Selig said.

It would be what Carvajal described as a “huge data source” for doctors and researchers, and could enhance patient understanding of the disease.

Selig said she hoped to have a significant update on OM registry efforts in the next few months.

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