Neonatal Screening of Severe Combined Immunodeficiencies
NCT ID: NCT02590328
Last Updated: 2022-01-05
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
180000 participants
OBSERVATIONAL
2015-12-31
2021-12-31
Brief Summary
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Detailed Description
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Quantification of TRECs (T-cell receptor excision circles) in DNA extracted from Guthrie samples is a sensitive screening test for Specific and SCID. TRECs are small-circle DNA molecules which are by-products of T cell maturation in the thymus, and their numbers reflect the number of recently emigrated T-cells from the thymus. Since all infants with SCID have a profound decrease in T-lymphocytes no matter what gene mutations are involved, logically the number of TRECs present in blood collected via dried blood spots 1-2 days post delivery on SCID babies should be very low when compared with healthy newborns. The TREC assay includes DNA extraction from a 3 mm punch of dried blood specimen in a 96-well plate format. The extracted DNA undergoes Real-time qPCR procedure on 7900 HT Fast Real-time PCR System (ABI). The TREC copy number is calculated relative to a standard curve generated from serially diluted plasmids which contain a known number of TREC. The investigators propose in this study to perform a neonatal screening of SCID, in a population of 200,000 babies over a period of three years. The investigators propose to study the incidence of SCID, mortality \& rate of disability, clinical utility and SCID screening to demonstrate that could result in a broad benefit to individuals detected, making screening relatively efforts in spite of the low incidence of the disease.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Screened patients
SCID screening: some drops of blood are placed on a second Guthrie card when current screening is performed after parents' information and consent. The card drawn for the protocol will follow the usual network except that the test for quantifying TRECs will be realized to determine the presence of SCID.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
2. Newborns who was born in Shanghai and in 2016 to 2020
3. Blood sample card was collected in 72 hours after birth
Exclusion Criteria
2. Sample card was damaged
28 Days
ALL
No
Sponsors
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Children's Hospital of Fudan University
OTHER
Responsible Party
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Jinqiao Sun
Professor
Locations
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Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, China
Countries
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References
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Kobrynski L. Newborn screening for severe combined immune deficiency (technical and political aspects). Curr Opin Allergy Clin Immunol. 2015 Dec;15(6):539-46. doi: 10.1097/ACI.0000000000000221.
de Pagter AP, Bredius RG, Kuijpers TW, Tramper J, van der Burg M, van Montfrans J, Driessen GJ; Dutch Working Party for Immunodeficiencies. Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening. Eur J Pediatr. 2015 Sep;174(9):1183-8. doi: 10.1007/s00431-015-2518-4. Epub 2015 Apr 1.
Rozmus J, Junker A, Thibodeau ML, Grenier D, Turvey SE, Yacoub W, Embree J, Haddad E, Langley JM, Ramsingh RM, Singh VA, Long R, Schultz KR. Severe combined immunodeficiency (SCID) in Canadian children: a national surveillance study. J Clin Immunol. 2013 Nov;33(8):1310-6. doi: 10.1007/s10875-013-9952-8.
Puck JM, Routes J, Filipovich AH, Sullivan K. Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID). J Clin Immunol. 2012 Feb;32(1):36-8. doi: 10.1007/s10875-011-9598-3. Epub 2011 Oct 20. No abstract available.
Burroughs L, Woolfrey A. Hematopoietic cell transplantation for treatment of primary immune deficiencies. Cell Ther Transplant. 2010 Aug 31;2(8):10.3205/ctt-2010-en-000077.01. doi: 10.3205/ctt-2010-en-000077.01.
Puck JM. Neonatal screening for severe combined immune deficiency. Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):522-7. doi: 10.1097/ACI.0b013e3282f14a2a.
Puck JM; SCID Newborn Screening Working Group. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J Allergy Clin Immunol. 2007 Oct;120(4):760-8. doi: 10.1016/j.jaci.2007.08.043.
de Silva R, Gunasena S, Ratnayake D, Wickremesinghe GD, Kumarasiri CD, Pushpakumara BA, Deshpande J, Kahn AL, Sutter RW. Prevalence of prolonged and chronic poliovirus excretion among persons with primary immune deficiency disorders in Sri Lanka. Vaccine. 2012 Dec 14;30(52):7561-5. doi: 10.1016/j.vaccine.2012.10.035. Epub 2012 Oct 22.
Other Identifiers
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NSSCID
Identifier Type: -
Identifier Source: org_study_id
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