Hematologic Diseases Clinical Trial
— IBMDxOfficial title:
Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)
NCT number | NCT05196789 |
Other study ID # | 77923 |
Secondary ID | |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | March 18, 2022 |
Est. completion date | December 2025 |
This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase the genomic diagnostic rate in IBMFS.
Status | Recruiting |
Enrollment | 350 |
Est. completion date | December 2025 |
Est. primary completion date | June 2025 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 3 Months and older |
Eligibility | Inclusion Criteria: 1. age = 3 months 2. able to give informed consent (or parent/guardian able to give informed consent) 3. a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as per the study team Exclusion Criteria: 1. A clinicopathological diagnosis of an acquired bone marrow failure syndrome (including acquired aplastic anaemia and hypoplastic myelodysplastic syndrome) as per the study team 2. Existing definitive genomic diagnosis for patient's haematological phenotype |
Country | Name | City | State |
---|---|---|---|
Australia | Peter MacCallum Cancer Centre | Melbourne | Victoria |
Lead Sponsor | Collaborator |
---|---|
Peter MacCallum Cancer Centre, Australia | National Health and Medical Research Council, Australia, University of Melbourne |
Australia,
Blombery P, Fox L, Ryland GL, Thompson ER, Lickiss J, McBean M, Yerneni S, Hughes D, Greenway A, Mechinaud F, Wood EM, Lieschke GJ, Szer J, Barbaro P, Roy J, Wight J, Lynch E, Martyn M, Gaff C, Ritchie D. Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes. Haematologica. 2021 Jan 1;106(1):64-73. doi: 10.3324/haematol.2019.237693. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Definitive IBMFS-RD diagnosis | IBMFS-RD diagnosis - An initial analysis of a panel of ~100 genes of established relevance to IBMFS-RD phenotype will be performed on all patients. If no molecular diagnosis is made from the panel of genes, further analysis on the genomic data will be performed using the best practice analytical tools and techniques.
All results will be communicated to patients. |
3-12 months post baseline | |
Secondary | Develop a whole transcriptome gene expression classifier | To develop a whole transcriptome gene expression classifier to aid diagnosis of IBMFS-RD. | 4 years | |
Secondary | Cost-effectiveness of genomic testing in patients with suspected IBMFS-RD | The cost-effectiveness of genomic testing is assessed by the differences in costs and quality of life associated with genomic testings compared with standard of care. Costs being considered include direct medical costs incurred within the health system arising from utilisation of hospital services and drug dispensing. Quality of life is assessed by EORTC-QLQ-C30 version 3 and CHU9D questionnaires for adult and paediatric patients respectively. | 4 years | |
Secondary | Budget-impact of genomic testing in patients with suspected IBMFS-RD | Evaluation of budget-impact of genomic testing includes examining the financial and operational sustainability as well as scalability of offering genomic testing beyond the trial period. | 4 years | |
Secondary | Health implementation analyses regarding the acceptability of genomic testing | The acceptability of comprehensive and centralised genomic testing in IBMFS-RD to patients is measured by a patient acceptability questionnaire which assesses patients' view and understanding of genomic testing. | 4 years | |
Secondary | Populate Registry | To populate the Aplastic Anaemia and Other Bone Marrow Failure Syndromes Registry (AAR, Monash University) with consenting patients with IBMFS-RD to facilitate long-term follow up. | 4 years |
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