Stories about: Dr. Sung-Yun Pai

Gene therapy trial offers hope for Harry

Boy with Wiskott-Aldrich syndrome holds father's hand.
Harry and his father at Dana/Farber-Boston Children’s

In their Brookline home-away-from-home, 2-year-old Duy Anh “Harry” Le plays with blocks and pop-up toys on the floor with his mother, Thao Nguyen. He is lively and happy, and his skin is clear. He looks almost nothing like the sickly baby covered in eczema who arrived in Boston from his native Vietnam in November of 2016 to participate in a gene therapy clinical trial for Wiskott-Aldrich syndrome.

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Newborn screening and gene therapy save baby from ‘bubble boy’ disease

Baby with "bubble boy disease" pictured with his family
Levi with his Dad, Phillip, and Colton with his mom, Kala (photo by Amie Van Amberg)

Happy to have given birth in January 2015 to two seemingly healthy boys, Levi and Colton, after an uneventful pregnancy, Kala Looks gave little thought to the routine heel prick of newborn screening. At 23 and 24, she and her husband, Phillip, were high school sweethearts starting a family.

Two weeks later, a Michigan state health official called. Something came up on Levi’s screen. You need to bring him in right away. Three weeks and numerous blood draws later, the Looks had a diagnosis: Severe combined immune deficiency (SCID) — “bubble boy” disease. Levi’s blood had only a few T cells, crucial ingredients of the immune system, and those were likely his mother’s lingering cells. Soon he would have no immune system at all.

That the fraternal twins are now healthy, active toddlers, climbing onto the dining room table and leafing through picture books and starting to talk, is thanks to newborn screening and a pioneering gene therapy trial at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

Had Levi been born before October 2011, when Michigan began screening all newborns for “bubble boy” disease, he could well have died of overwhelming infection before his first birthday.

Instead, Levi has a functioning immune system after being treated in Boston as part of an international clinical trial of gene therapy for boys born with X-linked SCID. He is one of three boys treated on the trial’s U.S. arm whose disease was picked up by universal newborn screening, now standard in 42 states. Of the other four boys treated at U.S. sites, one from South America was diagnosed at birth, because an older brother had died of the disease. Three boys, from South America or states that didn’t yet have newborn screening, were diagnosed after suffering life-threatening infections that their bodies had trouble shaking.

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Catching up with Emir, gene therapy star

Emir 1Last spring, we introduced you to Emir Seyrek, who was born with Wiskott-Aldrich syndrome (WAS), an inherited disorder that causes a child to have a poorly functioning immune system and difficulty producing platelets—the blood cells that keep bleeding under control. Until he reached age 2, Emir bled easily and suffered from severe eczema and infections.

In 2013, when Emir was two years old, he and his mother traveled from Turkey to take part in a clinical trial of a new gene therapy treatment for WAS at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. At that point, he had extremely low platelet counts and had been in and out hospitals in Turkey. Within a week of arrival in Boston he suffered a fall and had a skull fracture and potentially life-threatening internal bleeding.

The gene therapy trial—run by Dr. Sung-Yun Pai—replaces the broken WAS gene in a patient’s blood cells. Physicians collected stem cells from Emir’s blood, mixed them with a vector—a virus carrying a working copy of the WAS gene—and then injected the corrected stem cells back into Emir. After his gene therapy treatment, Emir’s platelet levels began to rise. He was sent back to Turkey after seven months in Boston, with high hopes that his platelet level would continue to improve.

Emir is now back at Dana-Farber/Boston Children’s for his annual checkup.

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