UCSF Participates In Experimental Therapy Trial For Infants With Rare Genetic Disease SCID
SAN FRANCISCO (KPIX 5) - In the late 1970s, and early 1980s, a small boy with dark eyes was known as "David, the Bubble Boy." In order to survive, the slender dark-haired youngster was forced to live in a sterile plastic chamber, and at one point, wore a special suit to protect him from bad germs and potentially lethal infections.
The media covered his journey, but during his short life, doctors could find no cure.
David was suffering from a rare genetic disease known as SCID, short for "Severe Combined Immunodeficiency Disorder."
Now, there is cautious optimism that doctors may have found a safe cure for patients just like David.
An experimental therapy produced wonderful results for a handful of infants diagnosed with a type of SCID called X-linked. One child is Declan Ruby, and his parents spoke exclusively with KPIX 5 and Juliette Goodrich.
The results were recently published in the prestigious New England Journal of Medicine. Eight infants were involved in the trial; 4 of the 8 were treated at UCSF.
Doctors who treat patients with SCIDs say this therapy and the potential cure is a game-changer. It is a relief for parents whose children are diagnosed with the inherited mutated gene.
"These are babies born without an immune system," said pediatric immunologist and UCSF researcher Dr. Morton Cowan.
In simple terms, Declan inherited a bad copy of a gene responsible for a healthy immune system. That makes him susceptible to a whole variety of infections, like a run-of-the-mill cold or flu, that most of us take for granted.
"It was terrifying, really, to have what seemed to be a very healthy baby at home and then to find out he had this condition," remarked Declan's mom Courtney.
The best treatment--or current standard of care--is a bone marrow transplant from a sibling who is an exact match. But Declan is an only child. And while alternate treatments, including antibody injections, can help a baby survive, there can be side effects.
"These antibody injections have to happen every month, indefinitely, for a baby's whole life," cautioned Doctor Jennifer Puck.
Dr. Puck is a pediatric immunologist at UCSF who developed a test to screen all newborns for SCID. The SCID test is now part of the standard newborn screening panel in California as well as in several other states.
Declan's parents decided to take a leap of faith and join a clinical trial at UCSF. The family resides in South Central Region of the United States. The therapy was developed at UCSF and St. Jude Children's Research Hospital.
"We're taking the patient's own cells and we're correcting them," explained Dr. Cowan
UCSF doctors collected bone marrow from Declan, when he was still an infant, and shipped it to St. Jude. At St. Jude, scientists isolated blood stem cells from Declan's bone marrow. They then cultured them, and used a modified virus to deliver a good copy of the gene into the cells.
"We've engineered it so it's no longer infectious," explained Dr. Cowan.
The cells were then frozen and shipped back to UCSF. They were ready to transplant.
"We had the baby in the hospital and when we were ready to do the gene therapy we gave the baby two doses of chemotherapy," said Dr. Cowan.
The chemotherapy was low dose and tailored to each child. The chemo was done to make room for the transplant. Declan then got an infusion containing his own blood stem cells, which carried a good gene.
"He just sat in a swing for 20-30 minutes and they did the infusion it was pretty uneventful, " recalled Declan's father Anthony.
Twelve weeks later, the little boy's immune system was creating healthy immune cells.
"It's worked beautifully" remarked Dr. Cowan.
"With gene therapy, we can give them complete treatment," said Dr. Puck.
The treatment at UCSF was supported in part by the California Institute for Regenerative Medicine, or CIRM. CIRM was created in 2004, when California voters approved Prop. 71.
As for David Vetter, he remained isolated in a sterile environment, in the hospital and then at home. He died too young.
This gene therapy promises a potentially safe cure for the next generations of kids with SCID,
Scientists will follow these children for quite some time to monitor their health, and hope to do more gene therapy treatments on additional infants diagnosed with X-linked SCID.
Declan's parents tell KPIX 5 that the toddler has gotten the cold and the flu and has bounced back just like any other normal kid.