Stories about: SCID

Advances in SCID (“bubble boy” disease): A Q&A with a child hematologist/oncologist

David Williams, Luigi Notarangelo and Sun-Yung PaiSung-Yun Pai, MD, a pediatric hematologist/oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, was lead author on two recent articles on severe combined immune deficiency (SCID) in The New England Journal of Medicine. The first reviewed outcomes after bone marrow transplantation; the second reported the first results of a new international gene therapy trial for X-linked SCID. Here, she discusses what’s known to date about these therapies.

Q: What is SCID?

A: SCID is a group of disorders that compromise the blood’s T cells, a key component of the immune system that helps the body fight common viral infections, other opportunistic infections and fungal infections. T-cells are also important for the development of antibody responses to bacteria and other microorganisms. A baby born with SCID appears healthy at birth, but once the maternal antibodies that the baby is born with start to wane, the infant is at risk for life-threatening infections. Unless diagnosed and treated—with a stem cell transplant from a healthy donor or a more experimental therapy like gene therapy—babies with SCID typically die before their first birthday.

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A double-shot of good news for SCID: Promising transplant and gene therapy data

Hematopoietic hierarchy aging blood cell hematopoietic stem cell blood disorder Derrick Rossi
Blood-forming hematopoietic stem cells (top) give rise to all blood and immune cell types. In children with SCID, the steps leading to immune cells are broken.

In the world of fatal congenital immunodeficiency diseases, good news is always welcome, because most patients die before their first birthday if not treated. Babies with severe combined immunodeficiency disease, aka SCID or the “bubble boy disease,” now have more hope for survival thanks to two pieces of good news.

Transplants are looking up

First came a July paper in the New England Journal of Medicine (NEJM) by the Primary Immune Deficiency Treatment Consortium. This North American collaborative analyzed a decade’s worth of outcomes of hematopoietic stem cell transplant (HSCT), currently the only standard treatment option for SCID that has a chance of providing a permanent cure.

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A new start for gene therapy for “bubble boy” disease: First U.S.-treated patient doing well

The first U.S.-treated patient with his parents. Photo: Patrick Bibbins

Until this month, Agustín Cáceres’s baptism was the only time his family could come close to him. Everyone had to wear masks, gloves and gowns.

After that, he went into isolation, along with his mother Marcela, who came out only for meals. His father Alberto, and his four-year-old brother Jeremías, kept to a separate bedroom. Jeremías had to stop attending nursery school, for fear he’d bring home an infection his baby brother might catch. When Agustín’s relatives came to help out, they had to change their clothes and wash their hands, and couldn’t enter Agustín’s room.

Agustín, born in Argentina, has a form of X-linked Severe Combined Immunodeficiency, or SCID-X1, better known as “bubble boy disease.”

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Moving gene therapy into high gear

A healthy copy of the affected gene is introduced into the patient's stem cells by means of a vector, a genetically altered virus that does not cause ongoing infection. The stem cells, corrected for the defect, are infused back into the patient. (Click to enlarge.)

Gene therapy, still experimental but beginning to enter the clinic, attempts to utilize advanced molecular methods to treat and even reverse genetic diseases. The field started in earnest about 25 years ago and has had many setbacks along the way to its recent earliest successes.

International collaboration has been critical. Children’s Hospital Boston is one of the founding members of the Transatlantic Gene Therapy Consortium (TAGTC), a new collaboration that seeks to facilitate a more rapid advancement of this technology for treating human diseases. It was initiated shortly after the first trials of gene therapy for X-linked Severe Combined Immunodeficiency (X-SCID) (in both Paris and London) reported leukemia as a serious side effect. The TAGTC was formed to address this setback, developing safer gene therapy reagents, sharing the costs of their development, and then implementing new gene therapy trials for rare diseases across multiple international sites.

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