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Rare Disease SCID: Boston Children’s Hospital Stem Cell Transplant Gets FDA Orphan Drug Designation

January 17, 2015

Boston Children’s Hospital’s Division of Hematology/Oncology receives a FDA Orphan Drug Designation (ODD) January 15th, for its Stem Cell Transplant for children with the rare disease, Severe Combined Immune Deficiency X-1 (SCID-X1).

SCID prevents the immune system from fighting off diseases. Children born with SCID are usually isolated in a germ-free environment. Children with SCID must go out in the environment in “space suits” that purify their air – thus the reference to “Bubble Boy” disease.

A July 2014 journal article is published in the New England Journal of Medicine (NEJM):

Pai, S.Y., Logan, B.R., Griffith, L.M., Buckley, R.H., Parrott, R.E., Dvorak, C.C., … O’Reilly.R.J. (2014). Transplantation outcomes for severe combined immunodeficiency, 2000-2009. New England Journal of Medicine, 371(5), 434-446.

The journal article, from a research group at the Dana Farber/Boston Children’s Cancer and Blood Disorders Center, examines the implications of stem cell transplantation in children with SCID and other primary immunodeficiencies. Data is gathered from 240 infants with SCID, who receive transplants at 25 centers for 10 years, 2000 – 2009. The following are several of the article’s conclusions:

.   Children with SCID, who undergo a bone marrow stem cell transplantation, have better survival opportunities if the transplantation is done as soon after birth as possible

.   Infection status at transplantation time & the donor source have the strongest impact on transplant outcomes

·   Genetic screening of newborns for SCID is encouraged & should be expanded

·   SCID is twice as common as originally thought: SCID occurrence estimation is 1/50,000 births

·   74% of the study’s patients survive at least 5 years

·   If transplantation occurs at 3.5 months of age or earlier, 94% survive.

Just recently in December 2014, both the FDA and Health Canada allows for the marketing of the first SCID newborn screening test VICTOR™ EnLite™ and EnLite™ Neonatal TREC Kit. To check whether a US state is doing newborn screening for SCID, the National Newborn Screening and Global Resource Center (NNSGRC) has a clickable map and state table.

Per Boston’s Children’s Hospital website:

“Boston Children’s has an ongoing gene therapy trial for the X-linked form of SCID (known as SCID-X1). The worldwide, multicenter study is sponsored in the United States by David Williams, MD, chief of Hematology/Oncology and director of Translational Research at Boston Children’s. The study is currently open for enrollment. To learn more, visit the trial listing on ClinicalTrials.gov.”

Boston Children’s Hospital FDA ODD Database Record

Generic Name: Autologous CD34+ bone marrow derived stem cells transduced with a self-inactivating gammaretroviral vector encoding the human IL2RG (yc)
Trade Name: n/a
Date Designated: 01-15-2015
Orphan Designation: Severe combined immune deficiency-X1 (SCID-X1)
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: Boston Children’s Hospital Div. of Hematology/Oncology Karp 08215 Boston, MA

Please Note: “Marty Schmidt in the Himalayas” by Sdiangelo (Own work) [CC-BY-SA-4.0]  | Wikimedia Commons.

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