The Experience of Screening for SCID

NCT05651113 | Recruiting

• 1 other identifier: SCID Protocol 5Aug2022 V4
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 1

Brief Summary

This project will evaluate the impact of including Severe Combined Immunodeficiency into the newborn bloodspot screening panel. It will recruit parents and health professionals primarily from the sites where this new form of screening is being trialled well as additional sites where clinicians will be involved in the care of these babies and comparator groups are needed. The proposed work will consist of two work packages. The first, a mixed-methods study conducted with families from the point of screening information being returned through to the child's fifth birthday. The second, a qualitative interview study conducted with health professionals during the clinical evaluation phase of the national pilot programme.

Conditions

Severe Combined Immunodeficiency

Outcome Measures

Primary Outcomes (2)

• EQ-5D-5L, GAD-7, ITQOL-47

  Every 12 months until the child is 5 years of age

• Qualitative interview data

  Jan 2022-Sept 2023

Study Arms (6)

Positive NBS for SCID

Parents whose baby was referred to an immunologist due their SCID screening result (minimum n= 10-25)

Other: SCID Screening

Normal NBS result

Parents who received a normal screening result (minimum n=10-25)

Other: SCID Screening

False positive NBS result

Parents who have received a false positive result elsewhere in screening (minimum n=2-10)

CFSPID Designation

Parents who received a CFSPID result (minimum n=\~10)

SCID via family history or clinical presentation

Parents whose baby was identified with SCID due to family history or clinical presentation (minimum n=10)

Parents whose babies have died

Parents who have received an abnormal screening result (T cell receptor excision circles (TRECs) or who were identified with SCID due to family history or clinical presentation and whose baby has subsequently died (n=\~10)

Other: SCID Screening

Interventions

SCID Screening OTHER

The addition of newborn bloodspot screening for severe combined immunodeficiency

Normal NBS result; Parents whose babies have died; Positive NBS for SCID

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

1. Parent Study A) Parents whose baby was referred to an immunologist due their SCID screening result B) Parents who received a normal screening result C) False positives elsewhere in screening D) Parents who received a CFSPID result E) Parents whose baby was identified with SCID due to family history or clinical presentation F) Parents who have received an abnormal screening result (T cell receptor excision circles (TRECs) or who were identified with SCID due to family history or clinical presentation and whose baby has subsequently died 2. Health professional study Health professionals working in the evaluation centres will be invited to a semi-structured interview.

You may qualify if:

• Participants must be at least 18 years of age. Participants must be able to understand the purpose and implications of the research study.
• Where participants are speakers of languages other than English, the research team will arrange a translator.

You may not qualify if:

• Where a child dies after recruitment to the project the team will sensitively check whether the parents wish to continue participation to enable their views to be included.

Sponsors & Collaborators

• King's College London: lead
• University of Manchester: collaborator
• University of Sheffield: collaborator
• Coventry University: collaborator
• National Health Service, United Kingdom: collaborator

Study Sites (1)

King's College London

London, SE5 9PJ, United Kingdom

RECRUITING

MeSH Terms

Conditions

Severe Combined Immunodeficiency

Condition Hierarchy (Ancestors)

Primary Immunodeficiency Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immunologic Deficiency Syndromes; Immune System Diseases

Study Design

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

Study Record Dates

• First Submitted: November 29, 2022
• First Posted: December 14, 2022
• Study Start: November 9, 2022
• Primary Completion (Estimated): March 31, 2029
• Study Completion (Estimated): March 31, 2029
• Last Updated: December 14, 2022

Record last verified: 2022-12

Locations

GB (1)