The Halko family of Monclova Township was happy to hear the news: Results of the first drug trial for children with progeria showed improvements in weight gain, bone structure and the cardiovascular system.
Kaylee Halko was one of 25 children with the rare, rapid-aging disease who participated in the study from 2007-09.
“I have not heard just Kaylee’s results. But as her mom, watching her, I think she’s doing good,” Marla Halko said. “Just seeing her every day, she doesn’t slow down, she doesn’t tire; I think she’s doing well.”
“I was glad the results were finally released. People have been asking us for a while, and we weren’t allowed to say anything,” said Tim Halko, Kaylee’s dad. “We could tell though that the drug was helping.”
The results were published Sept. 24 in the Proceedings of the National Academy of Sciences. Funded by the Progeria Research Foundation, the study was conducted by researchers from Boston Children’s Hospital and the Dana-Farber/Children’s Hospital Cancer Center.
“[The initial drug trial was] a wonderful first step. It’s not a cure, it’s one treatment and it helped certain things and it didn’t help others, but it’s the first of hopefully many, many wonderful successes with other drug trials,” said Audrey Gordon, president and executive director of the Progeria Research Foundation, a nonprofit organization dedicated to discovering treatments and a cure for the fatal genetic condition.
Kaylee and the other children in the study were treated with a farnesyltransferase inhibitor (FTI), a drug originally developed to treat cancer.
“To discover that some aspects of damage to the blood vessels in progeria can not only be slowed by the FTI called lonafarnib, but even partially reversed within just 2.5 years of treatment is a tremendous breakthrough because cardiovascular disease is the ultimate cause of death in children with progeria,” said Dr. Leslie Gordon, lead author of the study, said in a news release announcing the trial results.
In 1998, Gordon learned her son, Sam, had progeria. After finding out there was no research being conducted, she and her sister, Audrey, and family and friends founded the Progeria Research Foundation. Gordon is the medical director of the foundation and a staff scientist at Boston Children’s Hospital and Harvard Medical School.
Since 1999, the foundation has discovered the LMNA gene causes progeria; established a test to determine if children have the disease; started a cell and tissue bank; and raised funds for two drug trials and are planning a third study.
“To go from nothing to a drug treatment in 13 years is the kind of progress that we need for these kids because we are in a race against time,” Audrey said.
Children in the first drug trial showed improvement in at least one of three areas: weight, bone structure and the cardiovascular system.
Researchers found that one in three children posted a greater than 50 percent increase in annual rate of weight gain or switched from weight loss to weight gain due to increased muscle and bone mass.
“Children with progeria have highly abnormal bone structure, and we believe this contributes to their bone fragility. So for the children that could be tested, that severely abnormal skeletal rigidity achieved normal level overall with treatment,” Audrey said.
Arterial stiffness, often a predictor of heart attack, stroke and atherosclerosis in those aging, decreased by 35 percent, according to the study. Vessel wall density also improved with treatment.
“This really does give true hope to the families, to others and perhaps the more general population, but we’re really excited for the courageous families that are out there helping with these trials and being ready, willing and eager to participate in future ones,” Audrey said. “This is wonderful news, but we’re going to keep on going.”
The foundation plans to launch a third drug trial with rapamycin, which decreased the disease-causing protein progerin by 50 percent in mice, according to a 2011 study published in Science Translational Medicine.
“To see [the results] on paper and just with the treatment being successful and knowing that the third trial is coming up, it really gives me hope that it’s going to be successful as well, and it’s one more step to actually getting the FDA to approve the trial,” Marla said.
The Kudzia family of Whitehouse is waiting for the third drug trial to start; Carly, 2, is set to participate.
“It’s proven now that there is a treatment that provides a benefit for kids with progeria,” Heather Kudzia, Carly’s mom, said. “It’s not a cure, but I would say step one, check. Now give me some!”
“We’re very excited about the next trial. The doctors and researchers have come a long way,” Tim said. “Our hope is that each new drug added helps prolong these kids’ lives until eventually a cure is found.”
