Rare Disease Report

NIH Grants $9 Million to Childrens Hospital Los Angeles for Bubble Boy Research

OCTOBER 09, 2017
Mathew Shanley
The National Institute of Allergy and Infectious Diseases wing of the National Institute of Health (NIH) has awarded nearly $9 million to 2 scientists dedicated to discovering a new treatment approach for babies born with severe combined immunodeficiency (SCID).

Michael Pulsipher, MD, of the Children’s Center for Cancer and Blood Diseases at Children’s Hospital Los Angeles and Sun-Yun Pai, MD of Boston Children’s Hospital will lead a team of investigators in a multi-site study as they determine the lowest dose of chemotherapy necessary for babies with SCID undergoing bone marrow transplant.

Bone marrow transplant is the current standard of care for SCID, also known as alymphocytosis, Glanzmann-Riniker syndrome, severe mixed immunodeficiency syndrome, thymic alymphoplasia, and “Bubble Boy” syndrome.

The rare condition is caused by an array of genetic mutations that result in heterogeneous clinical presentations but is most notable for children being unable to fight the most benign infections due to interrupted development of functional T and B cells.

“Our goal is to decrease the possible long-term effects from chemotherapy by determining the lowest doses needed to insure T and B-cell function in these infants, restoring normal immune systems that can last throughout their lives,” said Pulsipher in a press release. Pulsipher currently serves as the chair of the Pediatric Blood and Marrow Transplantation Consortium (PBMTC), section head of BMT at CHLA and professor of pediatrics at the Keck School of Medicine of USC.

Infants diagnosed with SCID by newborn screening will be enrolled in the study and randomized to receive a low- or moderate-dose of busulfan – a type of chemotherapy that acts to suppress the immune system in preparation for the transplant. It has been proposed that bone marrow transplant can be performed successfully in SCID patients without the higher dose of busulfan.
The intention of the study is to find a feasible treatment capable of safely and effectively restoring the immune system with less toxicity than the currently-used higher dose regimens. Those involved hope that the study will be the first completed trial in SCID.

For more information regarding new therapies in the rare disease community, follow Rare Disease Report on Facebook and Twitter.

Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2018 Rare Disease Communications. All Rights Reserved.