Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT05651113 |
| Other study ID # |
SCID Protocol 5Aug2022 V4 |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
November 9, 2022 |
| Est. completion date |
March 31, 2029 |
Study information
| Verified date |
December 2022 |
| Source |
King's College London |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial 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.
Description:
BACKGROUND
Some countries have introduced newborn screening for Severe Combined Immunodeficiency (SCID)
and modelling suggests it is probably cost effective in a UK setting. However, there is some
uncertainty about this, and questions remain unanswered relating to its potential
introduction in UK. The UK National Screening Committee (UKNSC) recommended that an
evaluation should take place 'in practice' to try to answer some of these questions. The
evaluation will take place in England and will involve about two thirds of babies born from
September 2021 to August 2023. This amounts to approximately 800,000 newborns.
Screening for SCID within the NHS Newborn Blood Spot Screening Programme will make use of the
blood spot already taken, usually by midwives, on babies at 5 days old. If, as a result of
screening of this sample, babies are found to be at higher risk of SCID, parents will be
notified, and the result explained. An appointment will be made for them to be seen the next
day by an immunologist. At this appointment, the immunologist/clinical nurse specialist will
explain the implications again and another blood test (flow cytometry) will be performed that
day. The results are usually available the same day. These will be explained to the parent
and depending on the result, they may be discharged ('false positive screening result') or
appropriate management arranged ('true positive'). Amongst the true positives will be
children with SCID, children who have other disorders (temporary or permanent) resulting in
severe immune dysfunction and some children who have a problem with a particular part of
their immune system (T cells) for whom the outcome is unknown on an individual basis.
Although the target of the programme is SCID, children with the disorder are likely to
represent only a minority of the true positives.
RATIONALE Previous research in other screening programmes has shown that delivering a false
positive result to a participant, or asking them to attend hospital for further tests,
following screening can have both short- and long-term deleterious effects. The size and
nature of this in screening for SCID was one of the issues that the UKNSC wished to be
explored. Preliminary survey and interview studies have started to explore the inherent
communication dilemmas, the experiences of parents and health professionals. This project
will seek to extend this work by exploring the views and experiences of parents and health
professionals who participate in the clinical evaluation.
RESEARCH QUESTION/ AIMS
1. Family Study
1. To explore the effects on families whose babies had a positive SCID screening test
(low TRECs). This will include babies with normal results on confirmatory testing,
as well as those with a result suggesting they have SCID or another disorder
affecting their immune system.
2. To compare views of the above families with families where the initial screening
result did not put the child in a higher risk category and families who received a
false positive result from another newborn bloodspot screening programme.
3. To compare quality of life of children with SCID whose diagnosis was reached by
screening, family history or symptomatic presentation.
4. To measure the quality of life of families who have a child with secondary or
syndromic T cell lymphopenia
5. To measure the quality of life and screening experience of children with idiopathic
T cell lymphopenia compared to experiences of families who have a child diagnosed
with CFSPID.
2. Health Professional Study A) Explore the views and experiences of a sample of midwives
who gained consent and took the initial blood sample.
B) To explore the views and experiences of the immunologists/clinical nurse specialists who
saw the families at the time of flow cytometry.
N.B. Throughout this work we refer to 'parents' for simplicity. However, we recognise that
the family situations of the infants may be more complex, with the existence of legal
guardians and non-resident parents. The baseline position is for resident guardians to be
included, but if specific circumstances suggest a wider parental group, additional
participants may be included.
