Desperate mother tries to save clinical trial that could save her daughter: "The treatment is in the fridge."

In the world, there are fewer than 100 people affected by a rare and fatal disease known as SPG50, and one of them is a 3-year-old named Naomi Lockard from Colorado.

The experimental genetic therapy has shown potential in halting the disease's advancement; however, its high cost makes it unaffordable for most families.

Rebekah Lockard, the mother of the girl, is on a mission to raise the funds necessary to save her daughter's life.

SPG50 is a neurological disorder that affects a child's development, resulting in cognitive impairment, muscle weakness, speech impairment, and paralysis, as per the National Organization for Rare Disorders.

By the time they reach their 20s, most people with the disease will have passed away.

Immediately upon Naomi Lockard's birth in 2017, her parents observed some developmental delays.

Lockard stated that they began physical therapy for the baby around six months, but it did not aid in their progress.

A shocking diagnosis of SPG50 was revealed through an MRI and a full genetic testing panel.

Lockard was about to give birth to her second child, adding another layer of fear due to the genetic nature of the condition.

She informed Planet Chronicle Digital in a phone interview that she and her husband each possess one healthy copy of the gene, but also one mutated copy.

"Both Naomi and Jack (the second baby) had a 25% chance of inheriting both mutated copies."

Lockard stated, "There was a lot of panic and tears initially as it's a horrific condition."

Weeks after Lockard's birth, another genetic test confirmed the family's greatest fear: Baby Jack also had SPG50.

Dr. Eve Elizabeth Penney, an epidemiologist at the Texas Department of State Health Services and medical contributor for Drugwatch, stated that children with SPG50 may experience early developmental delays, muscle weakness, and spasticity, but they continue to strive and adapt.

Fewer than 100 people in the world are known to have SPG50.

Penney, who was not involved in the Lockard children's care, stated that over time, the symptoms can worsen, making it difficult for affected individuals to walk and perform daily activities.

"The severity of symptoms may increase over time, but the prognosis varies among individuals."

A glimmer of hope

The Lockards discovered hope for SPG50 treatment when they joined a clinical trial for an experimental gene therapy initiated by Terry Pirovolakis.

"According to Lockard, the process is similar to a gene transplant and functions as a treatment or possibly a cure."

The lumbar puncture procedure, which involves injecting cerebral spinal fluid, carries risks.

Lockard stated that although it carries a risk, it's the only viable option to prevent the condition from deteriorating further.

The baby, who was nearly six months old and had recently been diagnosed with the disease, received the gene therapy treatment first in hopes of halting the condition at an earlier stage.

The youngest child to ever receive an intrathecal (spinal) gene therapy treatment was him.

"Jack has flourished since then," Lockard stated. "He is now sitting on his own, playing with toys, drinking from a straw cup, and putting in a lot of effort to crawl."

Doctors and therapists concur that the treatment is effective.

Similar results have been experienced by other children who participated in the trial, Lockard stated.

She stated that all of them have exhibited a halt in the progression of their disease and an enhancement in their cognition.

Lockard’s daughter, Naomi, has not yet received the therapy.

Lockard stated that it is impossible not to compare Jack and Naomi, and that Jack has already caught up to Naomi's developmental level. He is expected to surpass her in the near future, despite the two-year age difference between them.

"Naomi is three years old but has only been crawling for six months. She is unable to walk or talk and her cognitive abilities are likely at the level of a nine-month-old."

"Kids develop paralysis in elementary school, become quadriplegic in high school and pass away in their 20s."

Despite the fact that her daughter may always have some shortcomings due to missing the "critical period" of growth, the gene therapy could halt any additional deterioration.

Lockard stated that if they can treat her before she gets paralysis, there is hope that she will never develop it.

If her daughter doesn't receive therapy, she will likely follow the typical course of the disease, according to Lockard.

"Elementary school children may become paralyzed and quadriplegic in high school, ultimately passing away in their 20s without the ability to speak or move."

The problem is that the clinical trial has run out of funding.

Cost and complexity

The development of treatment for SPG50 is challenging and expensive due to its sporadic nature.

Pharmaceutical companies frequently prioritize treating larger populations, as it has a greater potential for recouping research and development costs, according to the doctor who spoke to Planet Chronicle Digital.

"Companies are less likely to invest in creating a treatment for rare diseases like SPG50 due to the smaller market size."

The development of treatments for genetic disorders involves extensive research, time, and specialized technology, which increases the cost and complexity, according to Penney.

Penney stated that without a cure, families can manage symptoms by utilizing physical therapy, occupational therapy, speech therapy, and medications to control spasticity or seizures.

According to Penney, managing SPG50 demands a holistic, interdisciplinary strategy to tackle its diverse manifestations and obstacles.

Fighting to keep hope alive

Terry Pirovolakis initiated the experimental trial that may have saved Jack Lockard's life.

In 2017, Pirovolakis, a Canadian resident, discovered that his youngest son, Michael, had SPG50.

"Pirovolakis stated in an interview with Planet Chronicle Digital that he was informed that by the age of 10, his son would be paralyzed from the waist down and a quadriplegic by the age of 20, and would require support for the rest of his life."

Pirovolakis refused to accept that his son had a disease, so he immediately began researching and traveling to gene therapy conferences to speak with medical experts.

He used his life savings, refinanced his home, and hired a team of scientists at the University of Texas Southwestern Medical Center to develop a genetic treatment for his son.

"I couldn't just let these kids die. I had to do something."

Pirovolakis collaborated with a Spanish company to produce the drug after observing positive outcomes in mice and cell studies involving his son and other children with SPG50.

In December 2021, Health Canada approved Pirovolakis's request to proceed with gene therapy for his son.

Pirovolakis stated, "We had three more doses after that, and we decided to assist other children."

"I couldn't stand idly by and watch these children perish. I had to act."

In the U.S., a Phase 2 study was opened, treating three more children with SPG50, including Jack Lockard.

Pirovolakis stated that he attempted to offer therapy to pharmaceutical companies, but no one was interested, so he resigned from his job and established a nonprofit organization called CureSPG50 in California.

"Our objective is to save children from five deadly diseases, with a team of five employees and 20 consultants."

The National Institute of Health will commence a Phase 3 study for SPG50 with future trials planned for other diseases.

"Doctors are ready. There just isn't enough money to make it happen."

Without the support of major pharmaceutical companies, there is insufficient funding to administer the treatments to the children who require it.

According to Lockard, eight doses, manufactured in Spain, have been transported from Spain to the U.S.

"The refrigerator is where it's located, waiting to be used. Doctors are prepared, but there isn't enough funds to proceed."

The cost of producing the drug for each child is approximately $1 million, according to Pirovolakis, while treating each patient in the U.S. at the hospital costs around $300,000.

The next phase of the clinical trial relies heavily on the parents to raise funds, while Pirovolakis and his team are focused on securing grants and investors.

Although Lockard has raised $50,000 through a GoFundMe campaign, it is only a small portion of the funds required to treat her daughter.

Currently, four families in the U.S. are exerting great effort to raise the necessary funds, as time is of the essence, according to him.

"Ensuring the trial progresses and the children are treated is our goal."

The end goal

Pirovolakis aims to treat eight children with SPG50 in the upcoming Phase 3 clinical trial at the NIH.

If we demonstrate its effectiveness in all eight children and convince the FDA of its benefits, the drug will be approved and every child will have access to it.

"I get calls at least five times a week from families around the world, asking to help me save their kids."

If SPG50 is approved, it will be added to hospitals' newborn screening programs and every child with the disease will receive the therapy.

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He stated that he receives at least five calls per week from families globally, requesting his assistance in saving their children.

"Unfortunately, this is a money problem and there's only so much you can do. It's heartbreaking."