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These Families Raised Millions To Fund Treatment For Their Kids' Genetic Disorders. It Hasn't Happened.

Kim and Nate Fry are raising money to fund research on treatment for a rare genetic disorder which affects their son, Charlie.
Alex Smith
Kim and Nate Fry of Kansas City, Missouri, are raising money to fund research on a treatment for a rare genetic disorder that affects their son, Charlie.

The growing trend of family-funded research concerns some medical ethicists, who say that suggestions to parents that treatments may be imminent can raise thorny ethical issues.

Over the last several years, parents from across the country have appeared on television and news outlets to raise money to develop treatments for their children with rare genetic disorders.

Many of these families, including one from Kansas City, Missouri, have pinned their hopes on one Texas researcher, Dr. Steven Gray of the University of Texas Southwestern Medical Center in Dallas, who claims to be on the verge of treating a number of rare conditions. They've raised millions of dollars to fund his research, although breakthroughs haven't happened to the extent many had hoped.

While gene therapy holds great promise, the growing trend of family-funded research concerns some medical ethicists, who say that suggestions to parents that treatments may be imminent can raise thorny ethical issues.

“These are parents. They are desperate.” says Mayo Clinic bioethicist Megan Allyse. “They are willing to try almost anything. They are in a pretty vulnerable position for somebody to come along and say, ‘Give me your money, and I can make this better.’”

Further complicating the picture is the recent entry into the field of a private company, Taysha Gene Therapies, which says it will accelerate Gray’s research. That has divided his supporters and raised concerns about families who might be left behind.

Kim Fry, of Kansas City, Missouri, has a video on her phone of her son, Charlie, that was made in 2018 when he was 5 months old. It shows her bright-eyed boy gently shaking in his father's lap, as if shivering from cold.

Those little tremors sent the family on a year-long odyssey that led to a frightening diagnosis. A genetic test showed Charlie had an incredibly rare mutation in a single gene, SLC6A1. The mutation typically causes intellectual disabilities and epilepsy starting around the age of three-and-a-half that can severely affect patients for the rest of their lives.

Doctors told Kim and Nate there was no treatment available to help their son.

“At that moment, you just feel crushed and kind of begin grieving for the life you think your child’s going to have,” Kim said.

Rare genetic disorders have generally received little attention from biotech companies because the markets for treatments are so small.

But shortly after the diagnosis, Kim met Amber Freed, a mother from Denver who seemed to have found a solution. After her son, Maxwell, was diagnosed with the same mutation a year earlier, Freed met Gray, a molecular biologist who had focused on gene therapy while doing a post-doctoral fellowship at UNC Chapel Hill.

Gray was developing treatments — or even possible cures — for conditions caused by single-gene mutations, and he had agreed to work on SLC6A1. But it would be up to Freed to provide Gray with the millions of dollars he would need to do this work.

With the possibility of a treatment suddenly on the table, Kim and Nate immediately joined Amber in raising money through the organization she started, SLC6A1 Connect, and their own campaign, A Cure For Charlie. Their goal was to create a treatment and bring it to clinical trial before Charlie turned three-and-half, hoping to block the severe effects of the mutation and giving him a chance to live a regular life.

“Once the funding is there, then all the science is going to move into place, so really the only hurdle that we’re facing right now between us and the cure is the funding,” Nate said in fall of 2019.

Family fundraisers

Family fundraisers are a departure from how medical research is usually funded, typically through the National Institutes of Health, large foundations and advocacy groups.

Nevertheless, families like the Frys have appeared on news outlets and in publications throughout the country in recent years, from Good Morning America and ABC News to People magazine and countless local news shows, to raise money for research.

The children have been diagnosed with many different genetic disorders, but their stories are similar. They all have rare gene mutations that will lead to serious mental or physical declines or early death, and their parents are pinning their hopes on Gray to develop treatments.

They call themselves the “Steve Gray Parents.”

Gray himself has appeared in articles and videos, including one produced by UT Southwestern about Willow Canaan, a girl from Mississippi who has multiple sulfatase deficiency.

“A lot of the families that we interact with, they are coming to us with really sick kids. I think knowing their story, knowing that one child, gives us a face, gives us a mission that — if we can move fast enough — there’s hope that we could treat and we make things different for that specific child,” Gray said in one video.

Gray became a go-to researcher for rare disease families after his treatment of Hannah Sames, a girl from New York with a degenerative genetic disorder called giant axonal neuropathy.

In a 2016 clinical trial, Sames was injected with a manufactured virus that contained a working copy of the gene that was mutated. Through this adeno-associated virus delivery method, the normal gene would take over from the mutated one and stop the degeneration from happening.

The treatment slowed the progress of Hannah’s disease, according to Gray, but it wasn’t a cure. In a 2019 interview on Connecticut Public Radio, Hannah’s mother, Lori, said the family was seeking additional treatment.

But Gray thinks the same method could be used to treat and possibly cure all kinds of genetic disorders, including the SLC6A1 mutation

“We’re due for another leap in technology,” Gray told KCUR in 2019. “We’re going to have a better virus technology, better ways to deliver genes, and I can see that just making a further leap for the whole field.”

Gray, who says he has been involved in developing treatments for two dozen diseases, has accepted money from families to pay for the high costs of manufacturing viruses, doing toxicology studies and running clinical trials. Many of these family groups had raised more than a $1 million each from their friends, relatives and neighbors.

Though these families have been effective at raising money, bioethicist Allyse worries that without the peer review process that traditional funders use, they may not be in the best position to decide what research is likely to get results.

“The potential problem with going around that process is that it’s possible to sort of go down avenues that are less supported by the literature, that are less in line with the scientific consensus,” Allyse said.

But those doubts have done little to discourage dedicated parents like Amber Freed.

In early December 2019, Freed hosted the second annual SLC6A1 research symposium in a hotel conference room in downtown Baltimore. Freed quit her job in finance after her son’s diagnosis to dedicate herself to advancing a treatment, and she began organizing annual SLC6A1 research symposiums in 2018 to drum up interest in the work.

She’s also held charity golf tournaments, set up fundraising campaigns with companies like Amazon and Pizza Hut, and helped arrange the creation of genetically altered mice in China for research.

During the last two years, Freed has cultivated relationships with genetic researchers from all over the world, and as the sleepy scientists who traveled to Baltimore to take part in the symposium wandered into the conference room early on a Friday morning, she greeted them like family, with big hugs and smiles.

Amber Freed addressed researchers at an SLC6A1 symposium in 2019 in Baltimore, which she organized.
Alex Smith
Amber Freed addressing researchers in 2019 at an SLC6A1 symposium in Baltimore that she organized.

Despite Freed’s seemingly endless enthusiasm, she made clear in her welcoming speech to the scientists that, unlike them, her involvement in SLC6A1 research didn’t happen by choice.

“But to be honest…I don’t want to be here,” read a slide projected behind her at the end of her remarks.

Some improvements but no 'home run'

Toward the end of the day, Gray took the podium to deliver an update on research from his lab. For many in the audience, this was the day’s main event.

His team’s early research using the treatment showed some improvements in motor and behavioral skills in young, genetically altered mice that were treated before symptoms had appeared. But there was no change in mice that already had symptoms.

“I think treating at an early age, we’re seeing some signs of improvements and some nice signals that our vector is doing something positive, but, you know, it’s not a home run,” Gray explained.

Though it wasn’t the result Freed dreamed of, she was encouraged that the research appeared to be on the right path.

Gray insisted he had tried to be careful about managing expectations for families funding his work, but between symposium talks, he also said he had recently shifted course on working with them.

“I’m really having to say ‘no’ a lot now,” Gray told KCUR. “I’m kind of moving into a point where we were trying not to say no, and we were trying to work on everything that the science made sense. But there is a point where you just have to say, ‘You know I’ve got to focus on what I’m doing, and there’s a limit.’”

While Gray’s work did lead to a treatment for Hannah Sames, similar breakthroughs haven’t come in time for other families.

Laura King Edwards of Charlotte, North Carolina, started working with her family to raise money for Gray’s work after her baby sister, Taylor, was diagnosed with a form of a rare disorder called infantile Batten disease in 2006.

The family didn’t have a lot of hope the research would lead to a treatment in time to help Taylor, and she died two years ago at age 20.

Edwards says that looking back, she sometimes regrets all the time she spent running a fundraising organization.

“I’d spend hours up at night dealing with tech issues on our website, for example, or responding to emails from people all over the world, knowing that that’s time that maybe I could’ve spent with my little sister while she was still here,” Edwards says.

Nevertheless, even after Taylor was gone, her family continued to support Gray’s work through their organization, Taylor's Tale.

A new player

Not long after the conference in Baltimore, however, the race for a SLC6A1 treatment slowed to a crawl.

When the COVID-19 pandemic hit, scientific studies and medical trials across the country were stopped and research funds were directed to coronavirus research.

The therapists who work with Amber and Kim’s sons were unable to meet with them in person, and the boys started to backslide on some of their developmental progress.

Then, after the initial waves of the coronavirus subsided, hopes for Gray’s research came roaring back to life when a new company, Taysha Gene Therapies, announced it would partner with UT Southwestern, offering a boost to the research and development beyond what families could provide.

“They could get it to a certain place,” said Taysha founder R.A. Session II, “But when it needs to get to kind of the meaningful level in order to get it into late-stage clinical trials, this is where they just don’t necessarily have the capability. And so I think this is where you would see programs then transitioning into a company’s hands in order to kind of pursue them and move them forward.”

In April, Taysha announced a partnership with UT Southwestern that would fund Gray’s research and work to move it more quickly into clinical trials and possible treatment. Gray was named chief scientific officer.

The company said the family fundraising would no longer be needed.

For some parents, like Doug and Kasey Woleben of Dallas, that was great news. They’ve raised around $1 million for research to treat Leigh syndrome, which affects their 8-year-old son, Will.

“We were excited, thrilled to know that we’re now off the hook for millions and millions and millions of dollars. And that Taysha and UT Southwestern are trying to push this program and move it forward as quickly as possible. So for us, it was a miracle,” Kasey said.

But Taysha's involvement and its timeline have brought disappointment for other families. The company's first clinical trials, to treat a mutation that causes Tay Sachs disease, were planned to start in Canada at the end of 2020 but only received approval from the Canadian government this week.

The company says it plans to seek permission to test treatments for three other conditions, including the SLC6A1 mutation, by the end of 2021, but it has not announced any dates for beginning trials.

For Amber Freed and Kim Fry, Taysha’s timeline is problematic. Both of their sons were expected to exhibit epilepsy symptoms before the end of next year and so they would see little benefit from treatment initiated after that.

“I’m very disappointed,” Freed said in September. “If you had asked me this time last year, I would have fully expected to be in a clinical trial right now.”

Different priorities

Session insists that Taysha’s timeline and priorities on are based on what the research shows is safe and effective.

“We’ve allowed the science to kind of move forward at the pace the science moves,” Session says. “Then we move it forward into the clinic based on that science.”

But to Freed, the goal of fast-tracking to trial, even one that would have only resulted in a slight improvement for her son, appears much less likely now that Taysha is involved.

“Once you hand over the reins to a biotech, you lose decision-making power as a nonprofit organization, and you abide by their timeline and not necessarily your own,” Freed said. “In my case, we are racing to get this therapy into children like Maxwell and Charlie as quickly as possible, so we need it done tomorrow.”

For other Gray supporters, however, the future is even less clear. Taysha’s development pipeline does not include treatments for some of the conditions that Gray had previously been working with families to develop, including Charcot-Marie Tooth, Krabbe disease and multiple sulfatase deficiency.

UT Southwestern researchers will continue to research those conditions, according to a university spokesman, and Taysha says it plans to expand its pipeline in the future.

Terry Pirovolakis, who had enlisted Gray’s help to develop a treatment for spastic paraplegia 50, which affects his son, Michael, will not be involved with Taysha’s work. He’ll only continue to work with UT Southwestern directly.

“From my perspective, it was, that’s great. Taysha’s gonna come in and maybe save the world, but I don’t want to be part of it 'cause they’ve got a lot of stuff they gotta work out, and I’m not going to wait around for them to figure it out,” Pirovolakis said.

Pirovolakis, who lives in Toronto, has raised more than $1.5 million since May 2019 through his online campaign, Cure Michael, which was the most successful GoFundMe campaign in Canada last year.

Expectations vs. reality

He says that while he has been comfortable working with Gray, he believes that drug companies, which depend on the involvement of families for rare disease research, can mislead parents about what might be possible for their children.

“The industry, as a whole, I think, maybe sets expectations that are higher than reality," Pirovolakis said. "We see these presentations at the conferences of these kids doing amazing things, like a 4-year-old that has no brain function pretty much, going to school two years later. It’s remarkable.

"But that was five or 10 years of research. So I think that expectations from the industry are maybe what cloud us as parents in the hope that something amazing is gonna happen for our kids.”

Other parents have changed course on working with Gray as well.

CureCMT4J, a foundation created to advance research on Charcot-Marie Tooth by parent advocate Jocelyn Duff, an early supporter of Gray, is no longer involved with the researcher’s work. Duff said the organization had “moved in a different direction,” but she declined the provide details. The group had raised $1.3 million as of fall 2020.

Some ethicists have also raised questions about the costs of rare disease treatment, and they point to a drug previously developed by members of the Taysha team as a prime example of their concern.

Several members of the Taysha team, including Session, directors Sean Nolan and Phillip Donenberg, and others, earned their reputation for success as part of a AveXis, a company that developed the breakthrough treatment for spinal muscular atrophy, Zolgensma.

Zolgensma was introduced by drug giant Novartis last year with a price tag of more than $2.1 million, making it the most expensive drug in the country.

“On the one hand, you could say that’s a winning team,” said Megan Allyse. “On the other hand, you could say is that the team you want to be on if what you’re trying to do is generate not just effective treatments, but accessible treatments?”

Session says that Taysha currently has no plans regarding the pricing or accessibility of any treatments the company might develop.

“We should be so blessed to be able to have a discussion on pricing because then we’re talking about an approved therapy,” Session says. “But we’re not there yet. So what I would say is the company is focused on getting these drugs into patients effectively and safely as efficiently as possible.”

Taysha announced in November that it raised more than $275 million in private financing and an initial public offering.

For Kim Fry and Amber Freed, however, the focus is still very much on what can be done for their sons.

The women are continuing to raise money, but they have shifted to other researchers and technologies. And they have adjusted their expectations.

Fry’s son, Charlie, started having more significant seizures earlier in the year and is now taking medication to reduce them.

She still thinks a treatment within the next year or two could help her son and others like him, although not in the way she had once imagined.

“It may not be a 100% home run where they live 100% the life we hoped. But they’ll still have a better life than they are living today,” Fry said. “I lose sleep every night over the thought that it might be too late, but I’m still hopeful that there will be benefit for them.”

As a health care reporter, I aim to empower my audience to take steps to improve health care and make informed decisions as consumers and voters. I tell human stories augmented with research and data to explain how our health care system works and sometimes fails us. Email me at alexs@kcur.org.
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