Hope on the horizon for NJ toddler with rare terminal disease as gene-therapy trial nears

In New Jersey, a family is racing to enroll their 2-year-old son in the first clinical trial for a gene therapy designed to treat infantile neuroaxonal dystrophy (INAD), a rare genetic disorder that can steal motor skills, vision and speech. The nonprofit behind the trial says a small, targeted study could offer a possible way to slow a disease that progresses rapidly in many children.

Jack Drury was born at 33 weeks and briefly left the neonatal intensive care unit with his parents in South Amboy, after a 17-day stay that doctors said he could be fine. “They reassured us that he would be fine,” his mother, Kelsey Drury, told The Post. But as he grew, Jack stopped hitting milestones. By 8 months, his development stalled, and by the time he turned 2, doctors diagnosed him with INAD, a rare, degenerative condition tied to mutations in the PLA2G6 gene. The diagnosis was devastating for a family already navigating the uncertainties of raising a child with a seemingly ordinary start to life.

The diagnosis is rare enough that many doctors had not seen it before. “Not only did we not know about it, but the neurologist who shared the genetic results with us admitted she hadn’t heard of it before,” Tim Drury, Jack’s father, said.INAD causes fat-like substances to accumulate on nerves, disrupting signals and gradually eroding muscle control, vision, speech and cognitive abilities. There is no known cure or treatment to slow the disease, and estimates from the National Organization for Rare Disorders place the global patient population at fewer than 250 children. Carrier screening exists, but because INAD is so uncommon, many families face a long, uncertain diagnostic journey.

For the Drurys, the moment of hope arrived when a local doctor mentioned the INADcure Foundation, a New Jersey–based nonprofit pursuing a gene therapy designed to deliver a healthy copy of PLA2G6 to the cells that need it. The foundation’s goal is to address the root cause of INAD with the aim of slowing or stabilizing disease progression, not reversing it. The science is still in the preclinical stage, but early mouse studies showed promise: treated mice lived longer and retained motor function compared with untreated peers, according to clinical geneticist Darius Adams, who sits on the foundation’s Scientific Medical Advisory Board.

To move from concept to clinic, the foundation signed a manufacturing agreement to produce the therapy. But moving toward a human trial requires substantial funding, a hurdle the Drurys chose to meet head-on. They launched Jack’s Miracle Mission, sharing their story online and appealing to a broad audience for support. What began as a small family effort grew into a community-wide fundraising push. In six days, the family and their supporters closed the $450,000 gap needed to pay the drug manufacturer and unlock the next step toward a clinical trial.

The fund-raising momentum continued as word spread. Celebrity supporters from New Jersey’s pop culture world joined the effort, including Danielle Cabral of Real Housewives of New Jersey and Nicole “Snooki” Polizzi of Jersey Shore fame. The foundation’s leadership says the momentum demonstrates a broad public willingness to back research for ultra-rare diseases, even when the path forward is uncertain.

With the initial money in place, the INADcure Foundation is awaiting approval from the U.S. Food and Drug Administration to launch a clinical trial. If authorized, enrollment could begin early next year, and the plan is to enroll a small cohort — about 10 children — chosen from among the youngest patients available who meet trial criteria. For Jack, a spot is not guaranteed, but his family remains hopeful that he could be among the early enrollees. “Jack is one of the younger participants globally that they’re aware of, so I think there’s certainly potential that he’ll be part of this study,” Tim Drury said.

Participation would be costly, with an estimated price tag of about $200,000 per child for the trial itself. Jack’s Miracle Mission is aiming to raise roughly $2 million to cover the full cost of participation for all eligible children in the study, including long-term follow-up. The family notes that even if the therapy does not cure INAD, slowing its progression could preserve motor function longer, reduce complications and improve overall quality of life for as long as possible.

Meanwhile, Jack continues weekly therapies — physical, occupational and speech — to maintain whatever abilities he retains and to maximize his development during the potential treatment window. His mother describes daily moments of joy amid the uncertainty: “Baby Shark” on repeat, impromptu dance parties and the family’s dedication to making every moment count.

The case for pursuing gene therapy is shaped by both science and the realities of rare-disease care. INAD is caused by mutations in PLA2G6, and the gene-therapy approach aims to supply healthy PLA2G6 to affected cells, potentially slowing nerve degeneration. Doctors emphasize that this approach is not a cure, but if it can buy time and preserve skills, it could alter the trajectory of a disease that currently offers few options for families.

Beyond the Drurys, the INADcure Foundation is building a broader collaboration with researchers, patient advocates and biotech partners to validate the therapy’s safety and efficacy. Foundation founder Leena Panwala, whose own daughter has INAD, described cautious optimism: “The goal is to address the root cause of INAD, with the hope of slowing or stabilizing disease progression.” Panwala and others stress that early intervention may be crucial in this rapidly advancing neurodegenerative disease.

As the family awaits FDA action, the broader health landscape for INAD remains challenging. The rarity of the condition makes it difficult to recruit a large clinical trial quickly, and funding for ultra-rare diseases often depends on community generosity and philanthropic partnerships. Yet the fundraising milestone for Jack’s family demonstrates how patient advocates can mobilize local and national networks to move promising research forward, even in the absence of a proven treatment.

For Jack and others living with INAD, the stakes are personal and urgent. Without therapy, the disease typically progresses to a point where children lose the ability to walk, feed themselves or communicate, with life expectancy often measured in years rather than decades. If the gene therapy trial proceeds as hoped and patients respond to treatment, families could gain valuable time and a better quality of life for their children, even as scientists continue to search for a definitive cure.

The road ahead remains uncertain, and officials emphasize that the trial would be exploratory in nature, designed to assess safety and potential early signals of benefit. But for Jack and families like his, the chance to slow a devastating illness represents a meaningful shift from waiting for bad news to taking action toward hope. The Drurys say the community’s generosity has reminded them that humanity can rally around even the rarest of diseases, delivering not just funds, but a shared sense of purpose and possibility.