UK cohort study of congenital anomalies potentially requiring surgery in children (Surgical-PEARL study)
| ISRCTN | ISRCTN12557586 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN12557586 |
| IRAS number | 302251 |
| Secondary identifying numbers | 2021-4859, IRAS 302251, CPMS 51673 |
- Submission date
- 26/04/2022
- Registration date
- 28/04/2022
- Last edited
- 19/03/2025
- Recruitment status
- Recruiting
- Overall study status
- Ongoing
- Condition category
- Genetic Diseases
Plain English summary of protocol
Background and study aims
Around 1 in 60 babies are born with congenital anomalies (a structural condition) that require surgery to survive but we don’t really know why congenital anomalies occur. We are setting up a study to collect information about the health and quality of life of children with congenital anomalies that may require surgery. We are asking parents whose unborn baby or child has been diagnosed with a structural condition to take part in this study. We hope to look at risk factors by collecting samples from children and their parents. By monitoring children’s blood, urine and stool during their care in the hospital we may be able to work out better treatments for them.
Who can participate?
Children ages 0-5 years old, diagnosed with a congenital anomaly that might require surgery to correct.
The study will also invite the biological parents to collect data and samples.
What does the study involve?
Participants can be approached before or after birth. Once the congenital anomaly has been diagnosed, the parents will be approached by the study team and given a participant information leaflet. If the parents consent to their child taking part in the study, details about their delivery and surgery will be collected by the research team. If the parents also consent to samples, these will be collected after delivery (placenta, umbilical cord blood), where applicable, and during their surgical admission (blood, urine, stool and waste tissue). Parents will also be asked to complete a questionnaire 12, 24, 36 and 48 months after delivery. Questionnaires will be completed online and include questions about risk factors, their quality of life and if they have been admitted to the hospital or seen a GP since their surgery.
Biological parents will also be approached and given a participant information leaflet. If they are happy to take part in the study, data on potential risk factors will be collected from medical notes and/or questionnaires, and blood and urine samples will be collected.
What are the possible benefits and risks of participating?
There are no direct benefits of participating in the study, but we hope that the results from this study may benefit future care and outcomes for patients and the NHS. Samples will be taken from the children from lines that are already in place, so no extra needles will be needed.
There is very minimal risk associated with taking blood samples from the biological parents.
Where is the study run from?
The study is run from the University of Bristol and will take place in hospitals around the UK.
When is the study starting and how long is it expected to run for?
April 2021 to January 2032
Who is funding the study?
The study is currently funded by the Oyster Foundation Charity, the British Heart Foundation and the Bristol Biomedical Research Centre (UK).
Who is the main contact?
Clare Skerritt, clare.skerritt@uhbw.nhs.uk
Emma Griffiths, emma.griffiths@uhbw.nhs.uk
Mai Baquedano, pearl-study@bristol.ac.uk
Contact information
Principal Investigator
Bristol Royal Hospital for Children
Upper Maudlin Street
Bristol
BS2 8TP
United Kingdom
 ORCID ID |
0000-0002-2461-4344 |
|---|---|
| Phone | +44 1173428839 |
| clare.skerritt@uhbw.nhs.uk |
Public
Level 7, Queens Building
Bristol Royal Infirmary
Upper Maudlin Street
Bristol
BS2 8HW
United Kingdom
| ORCID ID |
0000-0002-7101-3082 |
|---|---|
| pearl-study@bristol.ac.uk |
Scientific
University of Bristol
St Michael’s Hospital
Southwell Street
Bristol
BS2 8EG
United Kingdom
| ORCID ID |
0000-0002-1810-8672 |
|---|---|
| Phone | +44 117 342 5470 |
| stuart.mires@bristol.ac.uk |
Scientific
St Michael’s Hospital
Southwell Street
Bristol
BS2 8EG
United Kingdom
| ORCID ID |
0000-0002-4180-2224 |
|---|---|
| Emma.Griffiths@uhbw.nhs.uk |
Study information
| Study design | Multi-centre prospective cohort study |
|---|---|
| Primary study design | Observational |
| Secondary study design | Cohort study |
| Study setting(s) | Hospital |
| Study type | Other |
| Participant information sheet | Not available in web format, please use contact details to request a participant information sheet. |
| Scientific title | Surgical Paediatric congEnital Anomalies Registry with Long term follow-up (Surgical-PEARL study) |
| Study acronym | Surgical-PEARL |
| Study objectives | Congenital anomalies or rare diseases affect 1 in 64 live births. Those with structural anomalies often require surgical interventions to survive. The potential causes of congenital anomalies potentially requiring surgical interventions (CAPRS) and the factors influencing their prognosis are not well understood. It is likely that they occur as a result of interacting molecular, genetic and environmental risk factors. This study aims to create a data registry tracking CAPRS from diagnosis through to long term outcomes including routinely collected clinical data on interventions and survival, as well as collecting biological samples from patients and their biological parents. |
| Ethics approval(s) | Approved 15/03/2022, South East Scotland Research Ethics Committee 01 (2nd Floor, Waverley Gate, 2-4 Waterloo Place, Edinburgh, EH1 3EG, UK: +44 131 536 9000; Sandra.Wyllie@nhslothian.scot.nhs.uk), ref: 22/SS/0004 |
| Health condition(s) or problem(s) studied | Congenital anomalies potentially requiring surgical intervention |
| Intervention | Participants can be recruited antenatally or postnatally. Once the congenital anomaly has been diagnosed, the parents will be approached and given a Participant Information Leaflet. When a parent consents to their child taking part, data from their delivery and surgical admission will be collected. Where parents have also consented to samples, placenta and umbilical cord samples will be collected after delivery (if patient has been approached antenatally) and blood, urine, stool and waste tissue will be collected during their surgical admission. These samples are stored for future analyses to identify potential markers of post-operative complications and recovery. Parents will also be asked to complete a questionnaire on behalf of the children 12, 24, 36 and 48 months after delivery or surgery. Questionnaires will be completed online and include questions about risk factors, quality of life (PEDSQL) and resource use. Participants also consent for details to be collected from NHS Digital and other clinical databases. Patient involvement in the study finishes once all questionnaires have been submitted. Biological parents will also be invited to take part in the study to provide data and samples. If the parents consent, blood and urine samples will be taken and they will be asked to complete a questionnaire on potential risk factors during pregnancy. Where consent has been obtained, pseudonymised samples may be made available to future Research Ethics Committee (REC) approved studies. |
| Intervention type | Other |
| Primary outcome measure | 1. Aggregated routinely collected clinical data from review of medical notes: operation details, PICU/NICU, HeartSuite, Hospital episode statistics (HES), HER, Magnetic Resonance Imaging (MRI), Computerised tomography (CT), Echocardiogram (ECHO), ultrasounds. Assessed at baseline and then yearly for 5 years. 2. Phenotypic and genetic analysis of biomaterials that would normally be discarded during surgery as well as blood, urine and stool samples from patients and their biological parents. Biological mothers will provide baseline blood and urine samples, and optional amniotic fluid sample (if patient is recruited antenatally). Biological fathers will provide baseline blood and urine samples. Patients will provide pre-operative blood, urine, stool and tissue when available, on arrival to PICU: blood and urine samples, 24 hours post-surgery: blood and urine samples. |
| Secondary outcome measures | 1. Demographics collected via questionnaires at baseline 2. Maternal and paternal demographics and information on potentially modifiable risk factors associated with CAPRS, assessed using questionnaires developed specifically for this study and accessing relevant pregnancy medical records at baseline. 3. Short, medium and long-term clinical outcomes in patients born with CAPRS, monitored by reviewing the patient’s medical notes yearly for 5 years. 4. NHS resource use, monitored by reviewing the patient’s medical notes yearly for 5 years and using questionnaires developed specifically for this study 5. Patient’s and parents’ quality of Life (QoL) measured using PEDSQL questionnaires 12, 24, 36 and 48 months post-delivery (for patients recruited antenatally) or post-consent (for patients recruited postnatally). 6. Genetic and phenotypical characterisation of patients and their mothers and fathers. 7. MicroRNA analyses and isolation of progenitor cells when sufficient tissue, plasma and serum are available |
| Overall study start date | 01/04/2021 |
| Completion date | 16/01/2032 |
Eligibility
| Participant type(s) | Patient |
|---|---|
| Age group | Child |
| Lower age limit | 0 Months |
| Upper age limit | 5 Years |
| Sex | Both |
| Target number of participants | 2500 children (and approximately 1250 mothers and 1250 fathers) |
| Key inclusion criteria | Patients must be: 1. Fetus (2nd and 3rd trimester) or aged between 0 months and 5 years of age 2. Diagnosed with CAPRS The person giving consent must: 3. Have parental responsibility for the participant Biological mothers and fathers: 4. Have a biological child enrolled in PEARL 5. Have capacity to consent |
| Key exclusion criteria | 1. Unable to give informed consent and/or assent 2. Main residence is outside the UK |
| Date of first enrolment | 19/05/2022 |
| Date of final enrolment | 01/01/2032 |
Locations
Countries of recruitment
- England
- United Kingdom
Study participating centre
Marlborough Street
Bristol
BS1 3NU
United Kingdom
Sponsor information
University/education
Research & Enterprise Division
2nd Floor St Augustine's Courtyard
Orchard Lane
Bristol
BS1 5DS
England
United Kingdom
| Phone | +44 1173940177 |
|---|---|
| research-governance@bristol.ac.uk | |
| Website | http://bristol.ac.uk/ |
"ROR" |
https://ror.org/0524sp257 |
Funders
Funder type
Charity
No information available
Private sector organisation / Trusts, charities, foundations (both public and private)
- Alternative name(s)
- the_bhf, The British Heart Foundation, BHF
- Location
- United Kingdom
Private sector organisation / Research institutes and centers
- Alternative name(s)
- NIHR Biomedical Research Centre Bristol, National Institute for Health Research Bristol Biomedical Research Centre, NIHR Bristol BRC, Bristol BRC, Bristol Biomedical Research Centre
- Location
- United Kingdom
Results and Publications
| Intention to publish date | 31/12/2032 |
|---|---|
| Individual participant data (IPD) Intention to share | Yes |
| IPD sharing plan summary | Available on request |
| Publication and dissemination plan | Findings will be disseminated widely through peer-reviewed publication, conference presentations and through patient organisations and newsletters. |
| IPD sharing plan | The datasets generated during and/or analysed during the current study are/will be available upon request from pearl-study@bristol.ac.uk. |
Study outputs
| Output type | Details | Date created | Date added | Peer reviewed? | Patient-facing? |
|---|---|---|---|---|---|
| Protocol article | 09/12/2022 | 06/01/2023 | Yes | No |
Editorial Notes
19/03/2025: Contact details updated.
12/02/2024: Contact details updated.
06/01/2023: Publication reference added.
24/05/2022: The following changes have been made:
1. The recruitment start date has been changed from 01/05/2022 to 19/05/2022.
2. The individual participant data (IPD) sharing statement has been added and the IPD sharing summary has been changed from "Data sharing statement to be made available at a later date" to "Available on request".
05/05/2022: Internal review.
26/04/2022: Trial's existence confirmed by NHS Lothian
