Four American families are racing against time to raise $1.15 million by October to fund a Phase 3 gene therapy trial for their children suffering from SPG50, a rare and progressive neurological disorder. The families, from across the United States, are hoping this fundraising campaign will enable the trial to move forward, allowing more children with SPG50 to access the potential cure. SPG50, which affects fewer than 100 individuals globally, is known to cause developmental delays, muscle weakness, speech impairment, and eventually paralysis. The families are coordinating their efforts through a nonprofit organization called Jack’s Corner, which was established specifically to support the fundraising campaign. The hope is that, if the Phase 3 trial is successful, the FDA will eventually approve the treatment, making it accessible to broader groups of patients and potentially leading to its inclusion in the newborn screening panel. This could not only save lives but also help prevent the disease from progressing in children like those currently affected. The families are also pushing for greater flexibility in FDA regulations to accommodate the unique challenges posed by ultra-rare diseases.
The condition, spastic paraplegia 50 (SPG50), has a devastating impact on affected children. According to the National Organization for Rare Disorders, the disease begins with developmental delays in early childhood, gradually worsening over time. Children may initially struggle with walking, speech, and motor coordination, and the condition can eventually lead to full paralysis. Dr. Eve Elizabeth Penney, an epidemiologist at the Texas Department of State Health Services and a medical contributor for Drugwatch, explained that the prognosis for SPG50 varies, but the progression of the disease is generally inevitable. Without treatment, children may become paralyzed by age 10 and face a life of complete dependence on caregivers for all daily activities.
For many of the families involved, the potential for a cure is nothing short of life-saving. One of the families, from Littleton, Colorado, is fighting to get their 4-year-old daughter, Naomi, treated despite her current inability to walk. Her younger brother, Jack, had previously received the gene therapy in a previous trial, allowing him to regain mobility and cognitive function. The family has watched with both hope and despair as Jack improves while Naomi remains in a wheelchair. “Each day, we are so thankful that Jack received meaningful treatment at an early age. And each day, we feel despair that we haven’t been able to give Naomi the same quality of life,” Rebekah Lockard said in an interview with Fox News Digital.
Another family, from Juneau, Arkansas, is also facing a similar struggle. Their 4-year-old son, Cade, was diagnosed in 2023 and is already experiencing the early symptoms of SPG50. Emma and Dylan Jobsis have expressed deep concern about the future of their son. “Without treatment, Cade’s future is one of decline — eventually losing the ability to walk, to feed himself, and to do the things that make him who he is,” Emma Jobsis said. The parents have watched as their son gradually loses the physical abilities he has worked so hard to develop, and they are acutely aware of the urgency of the situation.
The families are not alone in their desperation. Jordan and Cody Medeiros, from Scio, Oregon, are also hoping for a breakthrough for their 4-year-old son, Lincoln, who has been diagnosed with SPG50. Since the diagnosis two years ago, Lincoln’s ability to walk has been steadily declining. His parents describe the situation as heartbreaking, as they watch him fall multiple times a day and struggle to express his pain and frustration. “The worst part is that there are eight doses, sitting and waiting to be given to children who so desperately need it,” Jordan Medeiros said.
Jami and Cody Wood, from Susquehanna, Pennsylvania, also share the same concerns. They have twins, one of whom, Mila, was diagnosed with SPG50 in August 2025. Despite having taken her first steps just three weeks earlier, the family is now faced with the reality that she may soon lose that milestone. “Gene therapy is currently the other treatment option for Mila, and this trial is our daughter’s only chance at stopping the progression of this terrible disease,” Jami Wood said. “Without the drug, we will be doomed to slowly watch her slip away.”
The families are turning to the public for support, as they are trying to raise the $1.15 million needed for the Phase 3 trial. They have launched a nonprofit organization called Jack’s Corner to help with the fundraising process, and they are actively reaching out to donors through various online platforms. The hope is that with sufficient funds, the clinical trial can begin, leading to FDA approval and, eventually, broader access to the treatment. However, the path to approval is not without its challenges. The FDA currently applies the same manufacturing standards to small programs like Jack’s Corner as it does for diseases affecting hundreds of thousands of children. For ultra-rare conditions, these requirements can make the process of funding and developing a treatment nearly impossible.
According to Terry Pirovolakis, the individual behind the development of the gene therapy, the FDA’s current processes for approving treatments for rare diseases are too rigid. He explained that the standards for large-scale conditions, which can affect many thousands of people, are not the same as those for conditions that affect only a few. “For large-scale conditions, economies of scale help bring down costs — but in our case, these requirements become nearly impossible to meet,” Pirovolakis said. “We need flexibility from the FDA for these ultra-rare conditions.” These challenges highlight the need for a more adaptive regulatory framework that can accommodate the unique difficulties associated with treating ultra-rare genetic disorders.
Ultimately, the families are fighting for their children’s futures, and they are calling on the public for support. They are hoping that through this fundraising campaign, the Phase 3 trial can begin, leading to the eventual approval of the therapy. If successful, the FDA may then approve the treatment for broader use, and insurance companies could eventually cover the costs of the therapy. Pirovolakis believes that the new approval could not only save lives but also help prevent the disease from progressing in children like those currently affected. The families are hopeful that, with the right support, they can make their dreams of a cure become a reality.