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Evaluation of genome sequencing as a diagnostic test in acute leukemia

Implementation and validation of whole-genome and transcriptome sequencing as a comprehensive diagnostic test in acute leukemia

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ISRCTN
Registry ID
ISRCTN66987142
Enrollment
450
Registered
2021-09-01
Start date
2021-06-01
Completion date
Unknown
Last updated
2026-06-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Acute leukemia Cancer Leukaemia of unspecified cell type

Interventions

Tumor DNA and RNA are extracted from bone marrow and/or peripheral blood samples collected as part of standard diagnostics. An additional sample (skin biopsy, buccal swab or other tissue) may be colle

Sponsors

Karolinska University Hospital
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1. Patients with diagnosed or suspected acute leukemia, for whom a referral is written for genetic diagnostics 2. Patients of any age can be included

Exclusion criteria

Exclusion criteria: Patients or guardians that are unable to provide written informed consent

Design outcomes

Primary

MeasureTime frame
1. Percentage of acute leukemia patients for whom all mandatory genetic aberrations found by SoC are also detected by WGTS is measured by comparison of variants retrieved from WGTS and SoC, respectively, after completion of patient inclusion 2. Percentage of acute leukemia patients for whom genetic variants relevant for classification or risk stratification are identified by WGTS but not by SoC is measured by comparison of variants retrieved from WGTS and SoC, respectively, after completion of patient inclusion

Secondary

MeasureTime frame
1. Percentage of patients for whom WGTS analysis and interpretation is successful in a given timeframe is measured by comparison of the number of days needed for WGTS analysis of each patient to the required turnaround-time, after completion of patient inclusion 2. Percentage of acute leukemia patients for whom patient management and/or therapy decision is changed based on variants only detected by WGTS is measured by analysis of patient journals/health records, after completion of patient inclusion 3. Micro-costing of WGTS compared to SoC is measured by comparison of costs associated with WGTS and SoC, respectively, after initiation of the study

Countries

Sweden

Contacts

Public ContactRichard Rosenquist Brandell
richard.rosenquist@ki.se+46 (0)8 5177 3928

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Jun 21, 2026