1,000th Stem Cell Transplant Given to Girl Who Is One in a Million

Shriya is one in a million. For starters, she’s a 9-year-old girl who will talk with anyone. She’s always upbeat and friendly, calling hello to everyone who walks by, even strangers.

“She’s so brave, and she’s such a chatterbox,” says her father, Shyam.

Those are rare traits in a child, but what makes Shriya truly rare is having been born with Schimke immuno-osseous dysplasia (SIOD)—a disease that affects just one in every million children in North America. It’s fitting that Shriya was the recipient of Stanford Medicine Children’s Health’s 1,000th stem cell transplant—being the rare child that she is.

“Shriya represents a new frontier of the stem cell transplantation field, so it’s incredibly exciting that she was our 1,000th stem cell patient,” says Alice Bertaina, MD, PhD, section chief of the Pediatric Division of Stem Cell Transplantation and Regenerative Medicine and co-director of the Bass Center for Childhood Cancer and Blood Diseases at Lucile Packard Children’s Hospital Stanford.

SIOD affects multiple systems in the body, including the kidneys, heart, arteries, thyroid, lungs, nerves, and immune system. Children with SIOD are also short-statured. SIOD occurs when both the mother and father carry an abnormal gene.

“When we first heard Shriya had SIOD, we couldn’t believe it. At age 4, the only concern we had was her short height. We expected it to be fixed with growth hormones. Instead, we heard she had a rare, incurable disease,” Shyam says.

Children with SIOD struggle with immune system problems and kidney disease that leads to kidney failure. All of this leaves a child fatigued and ill, including Shriya, who started experiencing kidney disease at the age of 5.

“She could only run a few steps before getting tired, and she had to spend 14 hours a day on dialysis,” Shyam says.

A potential cure for SIOD

Shriya’s parents were offered a stem cell transplant (also called a bone marrow transplant) in 2016 at another hospital, but at that time the odds of success, a mere 20%, were not worth the risk. By 2019, doctors at Stanford Medicine Children’s Health were investigating a much better option: a potential cure for their daughter’s rare disease.

“Before we came to Stanford, all we could do was dream about a real treatment for Shriya. Stanford offered something that we never imagined would be possible, and it’s totally a dream come true,” Shyam says.

Stanford Medicine Children’s Health’s treatment for SIOD is a two-transplant approach that potentially eliminates the risk of rejection that comes with kidney transplants—and the anti-rejection drugs that accompany them. The game changer is the use of haploidentical stem cell transplant, which provides a child with a new immune system, followed by a kidney transplant from the same donor, usually a parent. Having one donor for both transplants dramatically lowers the risk of kidney rejection and the need for long-term immunosuppression.

“With haploidentical stem cell transplants, we expand options for children who don’t have a fully matched donor by using a partially matched donor,” Dr. Bertaina says.

To make graft-versus-host disease (GvHD) even less likely, Dr. Bertaina—the worldwide pioneer and foremost expert in alpha/beta T-cell depleted haploidentical stem cell transplantation—selectively eliminates the immune system’s cells (alpha/beta T cells) from the donor stem cells. She has been using this technique regularly to treat children with cancers and blood diseases, so applying it to SIOD patients was a new venture. Stanford Medicine Children’s Health has treated three SIOD patients with this method so far—Shriya and the Davenport siblings.

“With the first SIOD patient it was almost an unthinkable idea, and now it’s a reality. We can offer children this chance at a cure, and that’s very exciting,” Dr. Bertaina adds.

Shriya received her stem cell transplant in January 2020 and her kidney transplant in the middle of the COVID-19 pandemic in July 2020. Both transplants went well.

“The nice part of doing a bone marrow transplant first is that it makes the body think the kidney is her own, so the kidney could last a lifetime,” says Amy Gallo, MD, surgical director of the pediatric kidney transplant program.

Lessening the chance for transplant rejection

Traditionally, kidney transplants last only about 10 to 12 years because of the constant threat of rejection. Anti-rejection medicines help, but they come with the cost of side effects. By lessening the risk of rejection with this new, two-transplant approach, the hope is that children like Shriya can live beyond childhood and become adults, free from medicines and with functioning kidneys.

“There have been multiple reports of kids with SIOD getting kidney transplants and dying because they could not tolerate the anti-rejection medicines. That’s why we decided to try something radically groundbreaking,” says Paul Grimm, MD, medical director of the pediatric nephrology program.

“Shriya went from taking 10 medicines right after her kidney transplant to taking none, today,” Shyam says. “Before the transplants, she had energy to climb only one set of stairs. Now, she runs up and down them all day long.”

Applying this novel treatment to other incurable diseases

This unique, revolutionary approach to treating SIOD could be used to treat other incurable diseases, like cystinosis (a genetic disorder that affects multiple organs) and focal segmental glomerulosclerosis (FSGS), a type of kidney disease. Doctors at Stanford Medicine Children’s Health are exploring the possibilities.

“SIOD is the first attempt at this two-transplant approach. We are very optimistic that it could be used for other rare, genetic diseases, but it’s so cutting-edge that we are moving ahead cautiously,” Dr. Grimm says. “Wouldn’t it be wonderful if one day we could offer it to children with all types of kidney disease?”

Shriya’s body had difficulty detoxifying drugs, so her doctors were careful to give her just enough to condition her bone marrow to make room for the stem cell transplant. Dr. Grimm describes Dr. Bertaina as a chef “tasting a stew” to decide the perfect recipe for success.

“We cannot say enough good things about Stanford. The doctors are like angels sent from heaven,” says Shriya’s mom, Rithula. “We don’t have family nearby, but the doctors and nurses were like a second family to us.”

Historically, children with SIOD live to a mean age of 9. Shriya is breaking those odds and living a symptom-free life, today.

“We have definitely improved her current quality of her life. Her energy is amazing, the way she runs around,” Dr. Grimm says. “We are hopeful that the stem cell transplant might cure the underlying disease.”

There are a million things that Shriya wants to do. Thanks to this unique treatment approach for SIOD, she now has the energy to try them. First on her list was learning how to ride a scooter. Now, she’s mastering riding a bike. After that, who knows? The possibilities are endless—just like Shriya’s love for life.