Severe Combined Immunodeficiency (SCID) presents as one of the greatest opportunities for newborn screening (NBS), and also one of its most difficult challenges. The defining characteristic is always a severe defect in T-cell production and function, with defects in B-lymphocytes as a primary or secondary problem. This is the first and only condition on the newborn screening panel of 30 genetic diseases that is curable if identified and treated in early infancy. The diagnosis of SCID is a pediatric emergency treatable by hematopoietic stem cell transplantation (HSCT). If SCID is found in an infant, it will most likely be cured by early treatment. If SCID is found later, a less effective treatment can be costly. If SCID is left undiagnosed, eventually life-threatening infections will develop and the infant will die before the first year.
Currently, the only test available with the potential of detecting SCID in the Guthrie specimen is the TREC (T-cell Recombinant Excision Circle) assay. The TREC assay presents technical challenges in that it is a primary screening assay using DNA and a protocol not accepted universally by the screening community. Alternatively, immuno assays are used routinely in NBS as a first-tier screening protocol. Therefore, a need exists for an alternative test for identifying T-cell immunodeficiency's as well as alternate diagnostic kits.
Using the Guthrie specimen, our immunoassay utilized novel antibodies against CD3 epsilon peptides as a marker for T-cell deficiency. This assay is very promising as a viable alternative or complement to the TREC assay for detecting SCID in a Guthrie specimen.
- Immunoassay for Newborn screening panel Severe Combined Immunodeficiency (SCID).
- Alternative test for identifying T-cell immunodeficiency's
- Immunoassays are used routinely in NBS as a first-tier screening protocol, therefore the multiplex immunoassay presents as a viable alternative or complement to the TREC assay in detecting SCID.
- This biomarker technique utilizes immunoassays vs. DNA that presents as a low cost rapid test.
State of Development:
- Health Research, Inc. is seeking companies interested in commercializing this diagnostic immunoassay for newborn screening to detect severe combined immunodeficiency (SCID).
- USPTO Application No. 13/039,722 and PCT Application No. PCT/US11/26975
- Health Research, Inc. is seeking a company interested in commercializing this immunoassay for newborn screening.
- Available for licensing.
Kenneth Pass, Ph.D.
For 28 years Dr.Kenneth Pass was director of the NYS Newborn Screening Program. During that time he introduced screening for biotinidase deficiency, congenital adrenal hyperplasia, and Krabbe disease. The NY program was the first to use a call-in system by which physicians could obtain test results on any day at any time, the first to provide a portion of the specimen form for the mother to facilitate acquisition of test results, the first to implement HIV testing of all newborns, and the first to test for the LSDs. He has published over 80 peer reviewed papers, eight book chapters, and delivered lectures all over the world on many different aspects of NBS. With funding from NICHD he has developed multiplex assays that screen for CH/CF/CAH (5-plex), SCID (2-plex), and autism (7-plex), all using a single 3 mm spot. Currently his laboratory is developing a multiplex assay for hemoglobin variants that can be added to each of the above, thereby allowing calculation of the hematocrit and normalization of test results.
Barbara Lindau-Shepard, Ph.D.
Janik, David K., Lindau-Shepard, Barbara, Nørgaard-Pedersen, Bent, Heilmann, Carsten, and Pass, Kenneth A. Improved Immunoassay for the Detection of Severe Combined Immunodeficiency. Clinical Chemistry, May 13, 2011. 162263v1, 2011; DOI: 10.1373/clinchem.2011.162263
Janik, David K., Lindau-Shepard, Barbara, Comeau, Anne M., Pass, Kenneth A. A Multiplex Immunoassay Using the Guthrie Specimen to Detect T-Cell Deficiencies including Severe Combined Immunodeficiency Disease. Clinical Chemistry, July 21, 2010.144329v1, 2010; 10.1373/clinchem.2010.144329
Diane L. Borghoff, B.S., M.S.
Marketing & Licensing Associate – Intellectual Property
Health Research, Inc.
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