Neonatal Screening of Severe Combined Immunodeficiencies

NCT02590328 | Completed DMC

• 1 other identifier: NSSCID
• Study Type: observational
• Target: 180,000
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of the proposed research is to observe the prevalence and establish the validity of a newborn screening method for severe combined immunodeficiency (SCID). The assay to be used is developed on the basis of PCR quantification of T-cell receptor excision circles (TRECs) that is absent in SCID patients, thus correlating with the disease.

Conditions

Severe Combined Immunodeficiency; Neonatal Screening

Keywords

Neonatal Screening; Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes; DNA Repair-Deficiency Disorders; T-cell Receptor Excision Circle

Outcome Measures

Primary Outcomes (1)

• prevalence of SCID

  At 28 days after birth

Secondary Outcomes (1)

• Number of detected SCID patients

  At 28 days after birth

Study Arms (1)

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.

Eligibility Criteria

• Age: Up to 28 Days
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Screening newborns will be selected from all cooperative hospitals of Neonatal Screening Programme in Shanghai who was born from 2016 to 2020.

You may qualify if:

• No more than 28 days old
• Newborns who was born in Shanghai and in 2016 to 2020
• Blood sample card was collected in 72 hours after birth

You may not qualify if:

• Lack of parental consent
• Sample card was damaged

Sponsors & Collaborators

• Children's Hospital of Fudan University: lead

Study Sites (1)

Children's Hospital of Fudan University

Shanghai, Shanghai Municipality, China

Location

Related Publications (8)

• 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.

  PMID: 26485096 BACKGROUND

• 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.

  PMID: 25875249 BACKGROUND

• 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.

  PMID: 24122030 BACKGROUND

• 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.

  PMID: 22012274 BACKGROUND

• 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.

  PMID: 21152385 BACKGROUND

• 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.

  PMID: 17989529 BACKGROUND

• 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.

  PMID: 17931561 BACKGROUND

• 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.

  PMID: 23099333 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Some drops of blood stored on the neonatal screening card (Guthrie card) as a source of DNA to screening. Samples 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.

MeSH Terms

Conditions

Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes; DNA Repair-Deficiency Disorders

Condition Hierarchy (Ancestors)

Primary Immunodeficiency Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Immune System Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: October 27, 2015
• First Posted: October 29, 2015
• Study Start: December 1, 2015
• Primary Completion: December 1, 2020
• Study Completion: December 1, 2021
• Last Updated: January 5, 2022

Record last verified: 2021-01

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)