Four families race to fund SPG50 gene therapy trial

Four American families with children diagnosed with SPG50, a rare neurological disorder that affects fewer than 100 people worldwide, are racing to raise $1.15 million to fund a U.S. Phase 3 trial of a gene therapy. The families have formed a nonprofit called Jack’s Corner to coordinate fundraising, with hopes of launching the study by next year if the funding target is met by the end of October. There is no FDA-approved treatment for SPG50 in the United States, but a gene therapy developed in Canada is advancing through clinical testing elsewhere, and the families are pursuing a patient-led path to bring it to more children in the United States.

SPG50 slows a child’s development and can progress to cognitive impairment, muscle weakness, speech difficulties and, eventually, paralysis. The National Organization for Rare Disorders describes a disease course that can vary, but often involves early developmental delays and increasing motor and speech challenges over time. While there is no FDA-approved treatment in the United States, a Canadian father created a gene therapy after his son’s 2017 diagnosis, driving the push to demonstrate whether the therapy can halt progression and improve cognition in affected children. After liquidating personal savings and consulting numerous experts, his son received the treatment in 2022, leading to a Phase 2 U.S. study that treated three additional children. Reports from the trial indicate disease progression stopped and cognition showed improvement for those treated. The families say the next step is a Phase 3 trial to expand access, but the drug remains unapproved by the FDA, making private fundraising essential.

The four families include Naomi Lockard of Littleton, Colorado; Mila Wood and her family from Susquehanna, Pennsylvania; Cade Jobsis of Juneau, Arkansas; and Lincoln Medeiros of Scio, Oregon. Naomi’s 4-year-old daughter Naomi has SPG50 diagnosed in 2023, and her younger son Jack previously participated in an early trial. Emma and Dylan Jobsis describe Cade as a child who was diagnosed in 2023 and remains at risk of rapid decline without treatment. The Medeiros family, whose 4-year-old Lincoln was diagnosed two years ago, says SPG50 has gradually restricted his ability to walk and communicate. In Pennsylvania, Mila Wood’s parents say their daughter, diagnosed in 2025, faced a rapid progression that made early treatment especially urgent.

"Naomi remains unable to walk and uses a wheelchair for mobility, while Jack is moving more quickly with a walker; Naomi has limited speech and gestures, while Jack has progressed in his communication,” a Lockard family member told Fox News Digital. “Each day, we are grateful that Jack received meaningful treatment early, but we feel despair that Naomi cannot have the same quality of life yet."

Emma Jobsis emphasized the urgency around Cade, noting that eight doses of the therapy sit waiting, and that without treatment Cade is likely to lose the ability to walk, feed himself and engage in daily activities. “Right now, Cade can walk short distances with a walker, but without treatment we know he will lose that ability,” she said.

Jordan Medeiros described Lincoln’s situation as a constant risk of painful falls and a growing difficulty in verbalizing his needs, underscoring the urgency of advancing to a Phase 3 trial to expand access. “SPG50 has slowly taken away his ability to walk safely; he falls many times a day,” Medeiros said.

Jami Wood, whose twins include Mila, described the bittersweet moment when Mila began taking steps after a year of wearing a brace and undergoing therapy. “Without the drug, we will be doomed to slowly watch her slip away,” Wood said. "Gene therapy is our daughter’s only chance at stopping progression, and the eight doses waiting could change everything for Mila."

The fundraising target reflects the reality that the therapy is not yet FDA-approved and cannot yet be widely covered by insurance or government programs. Pirovolakis has worked to establish a path toward Phase 3 to treat more children, but the process is complex and costly. The families say they are counting on the support of private donors and philanthropic groups to bridge the gap and accelerate access for other SPG50 children.

The group hopes that a successful Phase 3 trial would eventually lead to FDA approval, after which insurers and government programs would cover the therapy’s cost. A broader aim is to place SPG50 on a newborn screening panel so the disease could be caught and treated earlier in life, potentially altering outcomes for future families. Pirovolakis and his team say they are actively engaging with the FDA to secure approval for this ultra-rare condition, though they acknowledge the agency applies the same manufacturing standards to small programs as it does to larger diseases. That regulatory framework—designed for scale—poses a significant hurdle for treatments that address only a handful of patients.

Four families, one rare disease

Rebekah Lockard, Naomi’s mother, described how Naomi’s mobility limits her daily life and how Jack’s early access provided a meaningful difference for him, while Naomi has not yet benefited in the same way. The family’s fundraising efforts are designed to close that gap, with supporters invited to contribute to Jack’s Corner and help bring a potential cure to more SPG50 patients in the United States.

Emma and Dylan Jobsis explained that Cade’s future depends on the therapy becoming available to a larger group of children, while Jordyn and Cody Medeiros spoke to the ongoing risk of Lincoln’s condition worsening without access to treatment. The Woods family, whose twins were diagnosed in 2022, described Mila’s early milestones and the urgency of ensuring treatment options reach all affected children, not just a minority.

Looking ahead, the organizers believe a Phase 3 trial would enable broader access if the therapy proves safe and effective. If FDA approval follows, the medication could be included on newborn screening panels, enabling earlier diagnosis and earlier intervention for SPG50. The families’ campaign emphasizes not only the potential to halt progression but to preserve cognitive function and independence for as many children as possible.

The fundraising effort and regulatory path

The fundraising target of $1.15 million by the end of October is intended to cover the costs of initiating a Phase 3 trial in the United States, which would involve multiple sites and a larger cohort of children with SPG50. The campaign notes that even with a successful Phase 3 trial, broad access would require insurance coverage and regulatory approval, which can take additional time beyond the trial phase.

Regulatory experts note that the FDA currently applies the same manufacturing and quality-control standards to small-scale, ultra-rare programs as to larger disease programs. Advocates argue that greater flexibility is needed to bring treatments for ultra-rare conditions to patients more quickly. Dr. Eve Elizabeth Penney, an epidemiologist who has contributed to coverage of SPG50, said that while the therapy shows promise, the path to approval will require robust data from trials and careful consideration of manufacturing and safety requirements. She emphasized that early access must be balanced with rigorous evaluation to ensure patient safety.

The therapy’s origin and current status

The Canadian-based therapy that underpins the families’ hope began when a father decided to take action after his son’s 2017 SPG50 diagnosis. He funded early research and pursued a homegrown approach to gene therapy, eventually leading to a Phase 2 study in the United States. That study involved treating a small group of children and reporting halted progression and improved cognition in those treated. The next step is a Phase 3 trial designed to expand access to more patients across the United States, but funding is required to move forward.

The campaign also underscores the broader question of wait times and access for ultra-rare diseases. Advocates say that without a larger-scale program, many families face limited options and the risk that their children will lose critical years of development while waiting for an approved therapy.

What comes next

Supporters of Jack’s Corner say that if the Phase 3 trial demonstrates safety and efficacy, the therapy could become FDA-approved and subsequently covered by insurers and government programs. They also hope that success could lead to newborn screening recognition, enabling earlier detection and treatment.

The families’ efforts come as the FDA reviews therapies for ultra-rare diseases and considers how to balance patient access with rigorous safety and manufacturing standards. The families emphasize that their goal is not only to fund a trial but to lay groundwork for more rapid access to therapies for SPG50 patients in the future.

Anyone interested in learning more about SPG50 and the families’ fundraising efforts can visit the Jack’s Corner website. Fox News Digital reached out to the FDA for comment. Readers can support the cause by visiting the nonprofit’s site and contributing to the campaign to raise the $1.15 million needed to initiate a Phase 3 trial.

The potential for broader access remains contingent on a successful Phase 3 trial and subsequent regulatory approval. Advocates stress that the disease is rare, but the families affected by SPG50 are hopeful that a single successful therapy could change the trajectory of the disease for dozens of children over time, while encouraging researchers, regulators and agencies to adapt pathways for ultra-rare conditions.

Fox News Digital reached out to the FDA for comment on the current regulatory framework for ultra-rare, high-need conditions, including SPG50. The response highlighted the ongoing efforts to balance safety with access and the need for continued collaboration with patient groups, researchers and industry partners. The Jack’s Corner campaign continues to seek public support to reach its October fundraising milestone and move closer to a Phase 3 trial that could provide a lifeline to families dealing with SPG50.