An Early Diagnosis and the Promise of Gene Therapy
Wheeler Stecker was born in May 2019 with CLN3 Batten disease, a rare condition that stops cells from clearing waste. This buildup causes toxic damage in the brain. His parents, Judy and Courtney Stecker, learned about his condition when he was four weeks old. Early detection offered a potential advantage. Most children do not receive a diagnosis until they lose their vision at age five. When Wheeler was born, the medical community held high expectations for gene therapy as a solution. In 2019, regulators approved Zolgensma for spinal muscular atrophy, fueling massive investment into similar treatments.
Researchers at Nationwide Children’s Hospital developed a gene therapy designed to fix DNA errors. Amicus Therapeutics later acquired these rights, intending to move the treatment forward. At the time, doctors expressed optimism that Wheeler could receive the infusion before symptoms emerged. The treatment relies on infusing modified viruses to deliver healthy genes directly into the body. Despite the initial enthusiasm, the project stalled as the reality of biotech funding and manufacturing demands took hold.
The Breakdown of the Clinical Trial Model
Developing rare disease drugs proves difficult due to high costs and small patient populations. Amicus Therapeutics sought to conduct a late-stage trial using approximately two dozen children, comparing results against natural history studies. In 2021, the FDA rejected this plan. The agency requested a five-year study with at least 50 participants, including a placebo group. This requirement created a financial barrier that ended private interest in the program.
John Crowley, former CEO of Amicus and current head of the Biotechnology Innovation Organization, noted that the system failed these children. Investors refused to fund a five-year trial with 50 patients when the market for such a rare disorder remains so limited. The ethical concerns of giving a placebo to children with a degenerative condition further complicated the situation. In 2024, Amicus returned the therapy to Nationwide Children’s Hospital, leaving patients without a clear path to treatment.
Ethical Dilemmas in Compassionate Use
Neela Therapeutics now holds the rights to the gene therapy. Chief Scientific Officer Kathrin Meyer reports that of the four original patients treated, three show significant stabilization. One patient, now 13, retains the ability to read. Another, age 16, maintains normal cognitive function and speech. Despite these results, Wheeler faces hurdles. He currently takes miglustat to manage his vision loss. Because miglustat might influence trial data, Neela is hesitant to include him in their upcoming study.
His mother, Judy Stecker, requested access through the FDA’s compassionate use program. This pathway allows patients to receive unproven drugs outside of clinical trials. However, companies often struggle to approve such requests when they must decide which specific children receive treatment among many in need. Every child with Batten disease faces a similar, rapid decline. Selecting one for an experimental infusion creates a difficult moral choice for medical teams.
The Urgent Need for Regulatory Flexibility
Wheeler turned eight in May. His central vision has degraded to the point where he struggles to see the television, and he trips frequently during play. His parents installed safety signs around their property to protect him from traffic. He now relies on his hands to identify objects. The family believes he needs treatment by the end of the year to prevent total blindness. They have spent years engaging with FDA officials and medical experts to secure any available option.
Neela is currently negotiating with the FDA to design a trial that targets children who still retain some vision. They plan to deliver the drug directly into the spinal cord and the eye. Judy Stecker advocates for accepting higher risks during this process. She acknowledges that the procedure could lead to the loss of an eye, but notes that the disease itself guarantees that outcome. She continues to push for access, stating that she wants Wheeler's remaining time to be as manageable as possible.