Amid advances in gene therapy, ‘bubble baby’ in SF gains hope – San Francisco Chronicle

JaCeon Golden has only ever known the inside of hospitals. But the treatment hes receiving may have implications far beyond his as-yet isolated life.

Round-faced and big-eyed, with a perpetual pout that belies his sunny nature, he looks as healthy as any other 5-month-old. But JaCeon was born without a functioning immune system. Even the most banal of infections a cold, a diaper rash could be deadly.

Earlier this year, JaCeon became the first baby at UCSF Benioff Childrens Hospital at Mission Bay to undergo an experimental gene therapy treatment that, doctors hope, will nudge his body to build a new, robust immune system.

From right: Dannie Hawkins checks on her nephew Ja'Ceon Golden, who is being held by patient care assistant Grace Deng at UCSF Benioff Children's Hospital on Wednesday, March 8, 2017, in San Francisco, Calif. Golden, who is five months old, is diagnosed with severe combined immunodeficiency disease (SCID). He is a patient at UCSF, where he stays in a sterile room. The hospital is working on a new gene therapy treatment for SCID. Hawkins brought her nephew Golden from New Mexico for the experimental treatment.

From right: Dannie Hawkins checks on her nephew Ja'Ceon Golden, who...

So far, his results are promising. In a few weeks, JaCeons great aunt, whos also his guardian, hopes to introduce him to the world outside.

Am I going to see him smile when we walk out of here? Dannie Hawkins, 52, said with a glance at the baby, being fed from a bottle by a nurse wearing a gown and gloves. Hows he going to do in the free world?

It will be a while months, probably years before JaCeon is able to fully integrate with that wide world: go to school and birthday parties, ride a public bus, swim in a community pool. But that those activities may be in his future at all is extraordinary.

The treatment given to JaCeon is the result of decades of research into gene therapy that included a string of striking failures that led many doctors to abandon the pursuit altogether.

Gene therapy long had been considered a potential treatment for severe combined immunodeficiency disorder, or SCID, the condition JaCeon was born with, and some other genetic syndromes. The idea is to replace a single gene thats causing trouble.

Even as many doctors gave up on the promise of gene therapy, teams of stubborn scientists kept plugging away. And a few years ago, their experiments started to work, propelled by advances in the understanding of stem cells in this case, a type called hematopoietic stem cells that live in bone marrow and are responsible for generating blood and immune cells and improved methods of delivering genetic repairs.

JaCeon Golden is treated by patient care assistant Grace Deng (center) and pediatric oncology nurse Kat Wienskowski.

JaCeon Golden is treated by patient care assistant Grace Deng...

Now human gene therapy is being tested in trials at UCLA, where a team has treated 20 children with one type of SCID, and at UCSF in collaboration with St. Jude Childrens Research Hospital in Memphis. Both trials are funded by grants from the California Institute for Regenerative Medicine, the states stem cell agency, located in Oakland.

Researchers are studying similar therapies in hopes of curing genetic syndromes like sickle cell disease. And the stem cell agency is funding gene therapy research into potential treatments for HIV, brain cancer and Huntingtons disease, among others.

Gene therapy has been shown to work, the efficacy has been shown. And its safe, said Sohel Talib, a senior science officer at the state stem cell agency. The confidence has come. Now we have to follow it up.

JaCeon was born at a hospital in Las Cruces, N.M., and diagnosed with SCID just after birth as part of a standard newborn screening. He was flown to UCSF, one of a handful of facilities with expertise in SCID, when he was 3 weeks old. His great-aunt joined him about a month later, in November.

The immune disorder is commonly known as bubble baby disease, because until fairly recently kids born with it had to live in isolation, often in plastic bubbles in hospital rooms or their own homes to protect them from infections.

Babies born with SCID have a genetic mutation that leaves their immune system unable to develop disease-fighting cells. Without treatment, most will die within a year. Since the 1970s, some babies with SCID were cured with a bone-marrow transplant. But to be effective, a perfect match was required, almost always from a sibling, and only about a fifth of kids have such a match.

Ja'Ceon Golden is held by patient care assistant Grace Deng, as Deng bottle feeds Golden at UCSF Benioff Children's Hospital on Wednesday, March 8, 2017, in San Francisco, Calif. Golden, who is five months old, is diagnosed with severe combined immunodeficiency disease (SCID). He is a patient at UCSF, where he stays in a sterile room. The hospital is working on a new gene therapy treatment for SCID. Golden was brought from New Mexico for the experimental treatment.

Ja'Ceon Golden is held by patient care assistant Grace Deng, as...

The rest could undergo a bone marrow transplant from a partial match in JaCeons case, his great-aunt was one but even when that treatment was successful, kids were left with fragile immune systems that required constant maintenance with antibiotics and other boosts.

Gene therapy, though, may prove as effective as a bone marrow transplant from a perfect match.

The procedure starts with doctors harvesting stem cells from a babys own bone marrow, usually taken from the hip. In JaCeons case, his stem cells were sent in January to St. Jude in Memphis, where scientists are perfecting the gene-therapy delivery mechanism.

Sending away JaCeons stem cells was probably the most stressful time of my life, short of my own kids maybe being born, said Dr. Morton Cowan, the lead investigator of the UCSF trial, who has worked in SCID research for more than 30 years.

JaCeons stem cells were flown east over the first big weekend of major storms in California. Flights were being canceled around the clock, and doctors only had a window of about 36 hours to get the fresh cells to the labs in Memphis.

The trip was successful, but not without a hitch. After the cells were engineered and were being sent back to California, the material for a few heart-stopping hours got lost in the mail.

In a couple of months, Cowan said, he hopes to be able to do the gene-therapy delivery at UCSF labs, avoiding the travel headaches.

For now, that still happens at St. Jude. Doctors used a virus in fact, HIV, the virus that causes AIDS to deliver the gene therapy to JaCeons stem cells. The virus is neutered, with all of the disease-causing pieces inside removed.

Whats left is a missile-like shell designed to infiltrate a cell and deliver whatever payload doctors have inserted inside in this case, a healthy gene that will restore the stem cells ability to build normal immune cells.

Back in San Francisco, the cells were infused into JaCeon via a port in his chest. Because theyre his own cells, there was no fear his body would reject them.

He did have to undergo mild chemotherapy to kill off some of his own bone marrow and make room for the re-engineered stem cells to roost, but UCSF has been developing a technique for limiting the dosage of chemotherapy given in gene therapy procedures.

JaCeon suffered no obvious side effects from either the stem cell infusion or the chemotherapy drugs, doctors said.

Hes just thriving. Hes just hes great, Cowan said. He added, We cant open the Champagne just yet, but early tests show the new gene is active, and JaCeon has had an uptick of certain immune cells.

The infusion procedure took just 20 minutes, and JaCeon slept through it, but it felt momentous nonetheless.

It had been difficult to decide to enroll JaCeon in the trial, Hawkins said. Since she was a partial match for a bone marrow transplant, she had the option of giving him the traditional and well-tested therapy.

Shed said to his doctors, So youre telling me hes a guinea pig? They told her, she recalls, If it works, he can open the door for other kids.

That night, as Hawkins slept on the decision, I kept waking up, waking up, all night long, she said. If there was a possibility he could save someone else ... she added, and then broke off in tears.

She spends about six hours with JaCeon every day, beginning each morning with a bath in sterile water, brought by nurses in special tubs. Shes constantly wiping down his toys, clothes, bedding and stuffed animals.

Ive changed a lot of diapers in my time, but this is way more complicated than with other kids, Hawkins said, demonstrating the multistep process she uses to prevent diaper rash.

Im not going to say its been easy, she said. But hes doing fine. I wouldnt have it any other way.

Erin Allday is a San Francisco Chronicle staff writer. Email: eallday@sfchronicle.com

Twitter: @erinallday

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Amid advances in gene therapy, 'bubble baby' in SF gains hope - San Francisco Chronicle