NCT05196789 Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
| NCT ID | NCT05196789 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Peter MacCallum Cancer Centre, Australia |
| Condition | Inherited BMF Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 350 participants |
| Start Date | 2022-03-18 |
| Primary Completion | 2025-06 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 350 participants in total. It began in 2022-03-18 with a primary completion date of 2025-06.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility Criteria
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
Contact & Investigator
Piers Blombery, MBBS(Hons)
PRINCIPAL INVESTIGATOR
Peter MacCallum Cancer Centre, Australia
Frequently Asked Questions
Who can join the NCT05196789 clinical trial?
This trial is open to participants of all sexes, aged 3 Months or older, studying Inherited BMF Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05196789 currently recruiting?
Yes, NCT05196789 is actively recruiting participants. Contact the research team at kelsey.man@petermac.org for enrollment information.
Where is the NCT05196789 trial being conducted?
This trial is being conducted at Melbourne, Australia.
Who is sponsoring the NCT05196789 clinical trial?
NCT05196789 is sponsored by Peter MacCallum Cancer Centre, Australia. The principal investigator is Piers Blombery, MBBS(Hons) at Peter MacCallum Cancer Centre, Australia. The trial plans to enroll 350 participants.