Ultrafast Whole Genome Sequencing for Childhood Cancer

NCT07201038 | Recruiting

• 1 other identifier: IRAS317008
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

Cambridge University Hospitals NHS Foundation Trust (CUHNFT) is the Principal Treatment Centre for the East of England region, responsible for 120-150 patients \<16 years with a new diagnosis of paediatric malignancy annually; leukaemia comprises \~25% of these cases. Current molecular diagnosis of subgroups of childhood malignancies, particularly leukaemia, is based on flow cytometry, fluorescent in situ hybridisation (FISH) and single nucleotide polymorphim (SNP) arrays, for which the usual turnaround time (TAT) is 7-14 days. In the current era of access to targeted therapy, rapid diagnosis and treatment of patients in high-risk molecular subgroups is critical for improving outcomes. Children and adolescents with Philadelphia-chromosome positive (Ph+) acute lymphoblastic leukaemia (ALL) have significantly improved survival when treated with tyrosine kinase inhibitors (TKIs). Patients with Ph+-like mutations (10- 20% of paediatric ALL), also have a poor prognosis, requiring escalation of treatment and addition of targeted therapy. Rapidly identifying MYCN amplification is also of critical prognostic importance in embryonal tumours of childhood including neuroblastoma (25%) and medulloblastoma, and directly impacts on treatment from the outset of the patient journey. Overnight whole genome sequencing (WGS) entails taking an additional 5ml Peripheral Blood (PB) and Bone Marrow (BM) samples after samples for routine diagnostic workup have been collected, and could replace current standard of care (SOC), which has a median turnaround time (TAT) of up to 28 days, and up to 84 days for specific gene mutations, which can delay appropriate prognostication and management of high-risk patients. Rapid, point of care information on somatic and germline mutations will allow early risk stratification and expedite treatment for high-risk patients with cancer.

Conditions

Cancer Childhood

Keywords

whole genome sequencing

Outcome Measures

Primary Outcomes (1)

• Turnaround time from sample collection to availability of meaningful results.

  36 months

Secondary Outcomes (2)

• Percentage of enrolled patients with available WGS results from the Ultrafast WGS pipeline.

  24 months

• Correlation of data from Ultrafast WGS against current SOC WGS data.

  36 months

Study Arms (2)

Ultrafast WGS cohort, prospective patients

Ultrafast WGS, retrospective patients

Eligibility Criteria

• Age: 0 Years - 24 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Children with cancer at relapse or initial diagnosis

You may qualify if:

• Have given written informed consent to participate
• Be aged \<25 years of age
• Have confirmed or suspected malignancy
• For pilot/feasibility study (first 10 patients), only haematological malignancies (ALL/AML) will be included
• Have tumour and germline sample available - retrospectively collected or for prospective collection

You may not qualify if:

• Inability to provide written informed consent (self or parent/guardian)
• Insufficient tissue (BM/PB/tissue) available for research purposes after collection for routine diagnostic purposes

Sponsors & Collaborators

• University of Cambridge: lead
• Illumina, Inc.: collaborator
• Cambridge University Hospitals NHS Foundation Trust: collaborator

Study Sites (1)

Addenbrookes Hospital

Cambridge, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

extracted DNA will be stored

MeSH Terms

Conditions

Neoplasms

Central Study Contacts

Victoria Joslin

CONTACT

01223217251; vicky.joslin@nhs.net

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief Investigator

Study Record Dates

• First Submitted: September 23, 2025
• First Posted: October 1, 2025
• Study Start: October 19, 2022
• Primary Completion (Estimated): October 18, 2027
• Study Completion (Estimated): October 17, 2028
• Last Updated: March 17, 2026

Record last verified: 2026-03

Locations

GB (1)