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A pandemic is a bad time to hold an indoor birthday party, so people honked and waved from the street last month instead when twins Maxwell and Riley Freed turned 3.
The drive-by celebration, filled with balloons and “Hooray!” signs in the Denver suburb where the Freeds live, marked a pivotal birthday for Maxwell. This year, he will likely start developing severe, worsening, and debilitating epileptic seizures, a result of an incredibly rare genetic disease. There is no treatment.
“The pandemic is terrible and we have to keep people safe, but this has also hurt a huge number of people, kids like Maxwell,” said Amber Freed, Maxwell’s mother, who has been fighting to start scientific research on his disease. “We’ve come so far, and everything has come to a screeching halt, at the universities, the labs have just shut off the lights."
Maxwell’s disease, which is called SLC6A1, disrupts the brain’s chemistry, leading to developmental disorders, autism-like symptoms, and, often, severe epileptic seizures.
The SLC6A1 research effort rests on safety trials in mutant mice, crafted in China to have the same genetic defect as Maxwell, and shipped late last year to US labs for testing. Because only about 50 people are known to have the disease, the multimillion-dollar effort has largely been pushed forward thanks to Freed’s own fundraising and researcher-wrangling. Maxwell was on track to enroll in an experimental genetic treatment this year, before he turned 4.
But the pandemic has shut down research across the world, from the basic research on cells in labs to large scale trials of new drugs involving thousands of patients. The closures have crippled efforts to develop cutting-edge genetic treatments for children with rare diseases in particular, leaving Maxwell and many others like him with little hope.
On March 21, the National Institutes of Health (NIH) told its $6 billion internal research program to shift to minimizing staff at their laboratories. A few families rushed to enter children into clinical trials for rare diseases at that time, notably three Swedish children with a fatal neurological condition profiled this weekend by the Washington Post. For animal experiments in earlier stages of research, staff continued to care for animals, but no new animals were ordered. The move set the tone for research labs nationwide.
“It is clear the impact is substantial,” NIH Deputy Director for Extramural Research Michael Lauer told BuzzFeed Science. Lauer heads NIH’s $32 billion in grants, sent to more than 300,000 researchers a year at more than 2,500 labs nationwide.
One of the labs partially supported with this federal grant money is at Vanderbilt University, where the mutant mice that Maxwell needs for tests of a treatment for SLC6A1 are housed. While those grants haven’t stopped, the research at many schools has, with the pandemic shuttering labs or switching focus to the coronavirus. For parents like Freed, who have had to raise funds themselves to research rare diseases that threaten their loved ones, the halt at labs comes as a devastating blow.
“All of our labs are shut down, and as a result the precious little time my son has left is being wasted,” Nicole Henwood told BuzzFeed News. She heads NF2 BioSolutions, a charity that sponsors research into gene therapies for neurofibromatosis 2, a rare genetic disorder that causes tumors leading to blindness, hearing loss, and loss of balance. Her 7-year-old son, A.J., has tumors in his spine and on nerves that might leave him deaf, and life-threatening tumors on blood vessels in his brain.
“So I guess I would say the cost of this is the lives of children,” Henwood said.
Worldwide, the pandemic has hobbled the vast biomedical research enterprise, with enrollment of human volunteers for medical experiments down 65% compared to last year, according to Medidata Solutions, a clinical trials technology company. Heart disease and diabetes treatment research studies have been hit particularly hard. The NIH’s clinical trial registry lists 2,042 clinical trials as “suspended,” more than double the number of COVID-19 trials currently underway in the US. And far outnumbering those clinical trials are the safety experiments still going on in lab animals, a necessary step before tests in people.
For NF2 BioSolutions’ research, early gene therapy studies were underway at a large pediatric lab in Ohio and at two universities in Massachusetts, both states under emergency shutdown orders. “They are all working on gene therapy approaches for NF2, and are at very early stages, so every day counts if we are going to even have a shot at getting something to my son in time to help him,” said Henwood.
The pandemic’s halt to research hits parents like Henwood and Freed trying to navigate the cutting-edge world of genetic treatments for rare diseases particularly hard. Only possible in the last part of the decade, such treatments offer the tantalizing possibility of curing previously untreatable diseases, exemplified by the 2019 case of a 6-year-old girl, Mila Makovec, treated with gene therapy for Batten disease, a deadly genetic brain disease that affects 2 to 4 of every 100,000 children born in the US.
The experimental treatments are also impossibly expensive, forcing relatives to raise millions of dollars just to develop them. Research into Maxwell’s disease, SLC6A1, has cost around $1 million, all raised by Freed and the foundation she started. A JAMA Pediatrics report on Monday estimated genetic treatments might cost $1 million a year per child. The pandemic has halted not only the research but also fundraising.
“Time is the most valuable asset. And it's ticking away,” Rich Horgan of Cure Rare Disease, whose younger brother Terry has a rare form of Duchenne muscular dystrophy, told BuzzFeed News.
Duchenne muscular dystrophy overwhelmingly affects boys, causing progressive weakening of muscles and leading to life-threatening heart and breathing problems. Horgan was able to move the mouse research the group is sponsoring from Yale to a private lab, Charles River Laboratories, just ahead of the shutdown. But with three fund-raisers in Florida, Connecticut, and Massachusetts suddenly postponed, he has been forced to find different ways to fund the research. He has already raised $1.5 million for the research for his brother and needs another $1 million to finish it, and has applied for help from the government’s oversubscribed Paycheck Protection Plan for his organization.
“We're obviously burning cash quickly because we're funding these experiments and had great momentum going on, and that has been stifled to some degree,” said Horgan. CRD has turned to charity online game tournaments for fundraising. “It's a great on-brand effort because a lot of our followers are differently abled, and so while they may not be able to play baseball or basketball, they sure can game, and they can compete with the best of the best.”
For Freed, who needs to raise $5.5 million more to fund the research into Maxwell’s treatment, things are much more stark. Her next fundraiser was a golf tournament, now canceled, aimed at the oil and gas community in Colorado, which has seen the price of oil slide dramatically since March.
“It’s not like you can get your money back from the labs when there is this kind of stop,” said Freed. She looked into moving a small part of her son’s mouse research to a private lab, but found that the costs would have tripled. “You couldn’t even sell your house to pay for this,” she said. “We’re totally stuck. How do you fundraise when the entire country needs a GoFundMe?”
The decision to open or shut labs is out of NIH’s control, Lauer said, driven by decisions made by state governors and university presidents. With some states such as Ohio and Georgia now planning reopenings, he does not expect labs to immediately spring back to full operations. Before lab operations get back to normal after universities reopen, labs will need to carefully check equipment, restore supplies, and establish the health of cell cultures and lab animals before resuming experiments.
“If you don’t have access to research animals, you can’t do research,” he said.
In the meantime, children like Maxwell, already struggling with developmental delays, are regressing because they can’t receive physical therapy or other help they need, due to social distancing restrictions.
“He was making progress in making sounds, and now he just screams,” said Amber Freed.
“There are so many people out there struggling with rare diseases just like us,” she said. “We’re doing so much to protect one part of the population, but it is coming at tremendous cost to so many other people.”