An observational study in Inherited BMF Syndrome, Inherited Platelet Disorder and Hematologic Diseases, sponsored by Peter MacCallum Cancer Centre, Australia. Recruiting at 1 site in Australia. Open to participants aged 3 Months and older. Per ClinicalTrials.gov, last updated 2024-11-07.
Sponsored by Peter MacCallum Cancer Centre, Australia · Observational
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.
IBMFS-RD are a heterogeneous group of rare diseases resulting in significant morbidity and early mortality. These syndromes are individually and collectively rare (affecting \<1 per 10,000 people) and a significant proportion are unexplained by mutations in known genes. Whilst rare, these familial conditions are also likely underdiagnosed due to their relatively recent description and also due to lack of accessible genomic testing.
For patients with clinically suspected IBMFS-RD, receiving a genomic diagnosis is critical to:
This study aims to provide WGS and WTS to a national cohort of patients with IBMFS-RD to determine diagnostic rate, health economic impact, health implementation challenges and other exploratory endpoints.
609 studies on the registry are indexed under Hematologic Diseases; 108 are open to participants now.
This study's planned enrollment of 350 is above the median of 250 across 127 observational studies indexed under Hematologic Diseases.
Browse Hematologic Diseases studies →Peter MacCallum Cancer Centre, Australia is the lead sponsor of 82 studies on the registry; 25 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with suspected IBMFS-RD
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
To perform whole genome/transcriptome analysis of patients in a cohort of up to 350 Australian patients with IBMFS-RD
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.
Time frame: 3-12 months post baseline
Develop a whole transcriptome gene expression classifier
To develop a whole transcriptome gene expression classifier to aid diagnosis of IBMFS-RD.
Time frame: 4 years
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.
Time frame: 4 years
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.
Time frame: 4 years
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.
Time frame: 4 years
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.
Time frame: 4 years
Plan to share: No
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Peter MacCallum Cancer Centre, Australia