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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/ct2/show/NCT05196789
Registration number
NCT05196789
Ethics application status
Date submitted
15/12/2021
Date registered
19/01/2022
Date last updated
6/04/2022
Titles & IDs
Public title
Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
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Scientific title
Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)
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Secondary ID [1]
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77923
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Universal Trial Number (UTN)
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Trial acronym
IBMDx
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Inherited BMF Syndrome
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Inherited Platelet Disorder
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Hematologic Diseases
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Condition category
Condition code
Blood
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Haematological diseases
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Blood
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Haematological diseases
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Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Musculoskeletal
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Other muscular and skeletal disorders
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Intervention/exposure
Study type
Observational
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
Diagnosis / Prognosis - whole genome and transcriptome sequencing
Diagnosis / Prognosis: whole genome and transcriptome sequencing
To perform whole genome/transcriptome analysis of patients in a cohort of up to 350 Australian patients with IBMFS-RD
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Intervention code [1]
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Diagnosis / Prognosis
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Definitive IBMFS-RD diagnosis
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Assessment method [1]
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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.
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Timepoint [1]
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3-12 months post baseline
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Secondary outcome [1]
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Develop a whole transcriptome gene expression classifier
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Assessment method [1]
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To develop a whole transcriptome gene expression classifier to aid diagnosis of IBMFS-RD.
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Timepoint [1]
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4 years
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Secondary outcome [2]
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Cost-effectiveness of genomic testing in patients with suspected IBMFS-RD
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Assessment method [2]
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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.
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Timepoint [2]
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4 years
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Secondary outcome [3]
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Budget-impact of genomic testing in patients with suspected IBMFS-RD
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Assessment method [3]
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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.
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Timepoint [3]
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4 years
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Secondary outcome [4]
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Health implementation analyses regarding the acceptability of genomic testing
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Assessment method [4]
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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.
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Timepoint [4]
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4 years
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Secondary outcome [5]
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Populate Registry
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Assessment method [5]
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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.
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Timepoint [5]
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4 years
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Eligibility
Key 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
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Minimum age
3
Months
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Maximum age
No limit
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Sex
Both males and females
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Can healthy volunteers participate?
No
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Key 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
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Study design
Purpose
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Duration
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Selection
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Timing
Prospective
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Statistical methods / analysis
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Recruitment
Recruitment status
Recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
18/03/2022
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
1/12/2025
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Actual
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Sample size
Target
350
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
VIC
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Recruitment hospital [1]
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Peter MacCallum Cancer Centre - Melbourne
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Recruitment postcode(s) [1]
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- Melbourne
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Funding & Sponsors
Primary sponsor type
Other
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Name
Peter MacCallum Cancer Centre, Australia
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Address
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Country
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Other collaborator category [1]
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Other
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Name [1]
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National Health and Medical Research Council, Australia
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Address [1]
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Country [1]
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Other collaborator category [2]
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Other
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Name [2]
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University of Melbourne
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Address [2]
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Country [2]
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Ethics approval
Ethics application status
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Summary
Brief summary
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.
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Trial website
https://clinicaltrials.gov/ct2/show/NCT05196789
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Trial related presentations / publications
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.
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Public notes
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Contacts
Principal investigator
Name
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Piers Blombery, MBBS(Hons)
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Address
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Peter MacCallum Cancer Centre, Australia
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Country
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Phone
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Fax
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Email
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Contact person for public queries
Name
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Kelsey Man, PhD
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Address
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Country
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Phone
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61 3 8559 5000
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Fax
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Email
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[email protected]
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Contact person for scientific queries
Summary Results
For IPD and results data, please see
https://clinicaltrials.gov/ct2/show/NCT05196789
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