A rare disease is taking his vision. A gene therapy could help — if he can get it

CNBC Cures is proudly underwritten by Alexion, AstraZeneca Rare Disease, whose support enables our journalism to elevate stories that advance research, innovation and patient care in rare diseases. If any parents should be able to help their sick child, it's Judy and Courtney Stecker. They've both worked for the Trump administration, giving them high-level connections in Washington and at the nation's top hospitals. Doctors diagnosed their son, Wheeler, with a rare brain disorder as an infant, early enough to slow its progress. Scientists have developed a drug that could help him. And yet, seven years after Wheeler was born with a form of Batten disease, he still hasn't received that treatment. And time is running out. Wheeler is going blind. Even as scientists make new breakthroughs for rare diseases and regulators promise to be more flexible in evaluating them, Wheeler's story underscores how many patients still fall through the cracks. They're excluded from clinical trials because of their age or other drugs they're taking. Promising medicines often languish because companies run out of money trying to meet the high bar set by regulators. And if they seek special access to unapproved treatments, they can pose an ethical dilemma for drug companies. In the effort to help their son, the Steckers would seem to have been set up for success. But instead, the past seven years have been a long journey through the wilderness. "We are caught in this no-man's-land," Judy Stecker said in an interview. Now, a company's talks with the FDA could be Wheeler's last shot at keeping his vision. We are caught in this no-man's-land."Judy Stecker An early diagnosis Before Wheeler was born, Judy and Courtney Stecker knew that they could have a child with a rare disease. A genetic test had revealed that they were both carriers of CLN3, the most prevalent form of a disorder that prevents cells from clearing waste, causing toxic buildup in the brain. Batten disease is devastating, robbing children of their ability to see, speak, walk or swallow. Although it's rare, affecting just a handful of every 100,000 children, it's the most common form of childhood dementia. Still, the couple wanted to grow their family. In late 2018, after years of unsuccessful IVF rounds, including two miscarriages, the Steckers unexpectedly got pregnant. Wheeler was born in May 2019. He tested positive for Batten disease at four weeks old. For more stories like this, sign up for the CNBC Cures newsletter. In some ways, Wheeler was lucky. Most families don't realize that their child has Batten disease until about age 5 when they start losing their vision. His early diagnosis was crucial for slowing a disease that kills brain cells. What's more, many rare disease patients don't even have one potential treatment on the horizon. When Wheeler was born, there were multiple drugs being developed for his condition, including a promising gene therapy created by Nationwide Children's Hospital in Ohio. Back then, there was enormous excitement around gene therapy. With a single infusion, it can fix misspellings in DNA to potentially cure a wide range of rare genetic diseases. The hype reached a fever pitch in 2019, when US regulators approved Zolgensma, a gene therapy for spinal muscular atrophy. At medical meetings, neurologists had tears in their eyes watching videos of children who got the drug and were not only still alive but could walk. Investors poured money into the technology. One company, Amicus Therapeutics, began pursuing multiple gene therapies for Batten disease after acquiring the rights from Nationwide Children's. At the time, no one – not even the Steckers — felt comfortable giving a high-risk gene therapy to an infant who wasn't showing symptoms. "We didn't know anything about the therapy," said Kathrin Meyer, who led a team at Nationwide Children's that developed the gene therapy. "This kid had a lot to lose." Doctors were optimistic that Wheeler would get the treatment before symptoms appeared. "Unfortunately," Meyer said, "what nobody expected is that everything would stop." A drug goes sideways As months went by, the biotech industry realized that gene therapy was complicated. It requires infusing large quantities of modified viruses to deliver working copies of genes to cells. Some patients died from the side effects. Companies struggled to raise enough money to pay for the FDA's manufacturing requirements. The market opportunity – often just a few hundred patients – was small. Investors fled. Amicus, meanwhile, ran into other trouble. While the gene therapy for CLN3 Batten Disease showed promise in the first four children who got it, the company needed to prove that it worked in more patients to win approval. Amicus proposed running a late-stage trial with about two dozen children over a two-year period and comparing those results to how other children with the disease usually progress, known as a natural history study. But in late 2021, the FDA sent a letter to Amicus, saying that wasn't good enough, according to John Crowley, who was the company's CEO at the time. The agency told Amicus that it needed to run a five-year study with at least 50 patients, and some children needed to get a placebo. A trial with more patients required more money. And many scientists consider it unethical to give a placebo to a patient with a degenerative disorder like Batten disease, in which getting a fake drug means going blind. "No one was going to finance that," said Crowley, who now leads the biotech industry trade group Biotechnology Innovation Organization. "After that, I couldn't even give it away." The problem wasn't just about the stringent requirements at the FDA, according to Crowley. The entire system built to support the development of rare disease drugs remains far too difficult, he says. Clinical trials are too slow and inefficient. And there isn't a reliable model for health insurers to pay for one-time gene therapies that cost millions of dollars. "The system has failed these children," Crowley said. In 2024, Amicus gave the gene therapy for CLN3 Batten disease back to Nationwide Children's. The system has failed these children."John CrowleyBiotechnology Innovation Organization CEO An ethical dilemma For Wheeler, there's still hope. A new company, Neela Therapeutics, is trying to get the drug across the finish line. Meyer, now Neela's chief scientific officer, believes the gene therapy works. Of the four patients who were dosed, three have shown "remarkable disease stabilization," she said. One was identified early enough to be treated before major vision loss. More than 6 years after treatment, that patient, who is now 13, can read and see colors. Another is 16 and can run, has normal cognition and speaks nearly perfectly. But Wheeler may not be eligible for Neela's upcoming clinical because he's taking another drug, called miglustat. Stecker believes it's helped him keep his vision longer than most kids with the disorder. But experimental drugs like miglustat could change patients' disease trajectory and including them would complicate the trial results, Meyer said. So Wheeler's mom proposed an alternative: using the FDA's expanded access program to get him the gene therapy. The program, also known as compassionate use, is a regulatory pathway that helps dying patients get unproven drugs outside of a clinical trial. Neela, however, is reluctant to make the move. There may be dozens of patients waiting for this treatment. How do you give it to one child but not others? "Wheeler absolutely deserves to be treated," Meyer said. "But so does every other kid with a degenerative disease. They are all on a path to losing everything they have. So how do you select the patients where you make an exception? It's very difficult for us to justify because every kid that we meet is almost on death row." 'No stone unturned' Neela is now discussing with the FDA how to design a late-stage clinical trial and treat a few additional Batten disease patients by delivering the drug into both their spinal cord and directly into their eye. The approach is designed for patients who are diagnosed early enough to have some vision left. Meyer expressed optimism that her company will have a smoother path than Amicus. "The FDA seems really motivated to support rare disease programs," she said. Like many parents of rare disease patients, Stecker is determined. "No," she says, "is just the first starting point." Craig Benson, chairman of the Beyond Batten Disease Foundation, describes her as "a force of nature" and "a tireless advocate." Stecker has talked to everyone from Janet Woodcock and Scott Gottlieb, two former top FDA officials, to Tim Yu, a neurologist at Boston Children's Hospital who once tailored a treatment for a girl named Mila with Batten disease. She and her husband have criss-crossed the country, taking 34 trips to seven medical institutions so doctors could assess Wheeler. They've spent thousands of hours researching the disease, calling parents and experts and arguing with insurance companies to cover therapies. "I feel like I've left no stone unturned," she said. Meyer notes that the gene therapy for Batten disease would not exist if it wasn't for parents who find the scientists, raise the money, push the companies and get involved in politics to help change regulations. "It is incredible what they have to do and endure and impressive what they can achieve because they don't take no for an answer," Meyer said in an email. "They deserve huge respect. But also, it should not be that way. It is hard enough to care for these sick kids." The FDA has pledged to relax rules around developing drugs for rare diseases. But proving that a treatment is safe and effective still takes millions of dollars. It also takes years, which Stecker's son no longer has. Wheeler turns 8 in May. He loves climbing, jumping, being chased and playing hide and seek. But Stecker has spoken to parents of other children with the disease. She knows what's ahead. "It's the parents who have walked this road before you who know the most," she said. 'Why not take that risk?' Symptoms have started to appear. Wheeler trips more often now and no longer rides his scooter around the cul de sac because of his deteriorating vision and poor coordination. His fine motor skills have diminished to the point that he often uses his hands to eat. He still has some peripheral vision, but his central vision has shrunk so much that it's like he's looking through a straw. To watch Disney movies, he stands six inches from the TV. His parents installed signs near their home that read "Person with disability area" to protect him if he runs out of the house and can't see cars. He has redness around his eyes from rubbing them to see better. To prevent him from going completely blind, Wheeler likely needs to get treated by the end of the year, Stecker says. "The disease," she said, "is shrinking his world." Over time, Batten disease patients eventually lose the ability to speak and swallow. "The thought of him having to endure all those terrible things in darkness, without being able to see the comforting face of his parents, is soul crushing to me," Stecker said. His parents now celebrate small wins. Wheeler recently learned how to count to 10. After a year of practice, he can legibly write his first name. If gene therapy can preserve his ability to perceive light or delay a feeding tube, his parents would take it. "There's not anything that's going to cure Wheeler," she says. "What I want is for his time left on earth to be as pleasant as possible." There's not anything that's going to cure Wheeler. What I want is for his time left on earth to be as pleasant as possible."Judy Stecker For that to happen, she says, the FDA will need to allow for some risk. "Putting this gene therapy into his eye might result in him losing his eye," Stecker says. "Well guess what? He's going to lose his eye anyway. So why not take that risk?"