Actively Recruiting
Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
Led by Peter MacCallum Cancer Centre, Australia · Updated on 2024-11-07
350
Participants Needed
1
Research Sites
193 weeks
Total Duration
On this page
Sponsors
P
Peter MacCallum Cancer Centre, Australia
Lead Sponsor
N
National Health and Medical Research Council, Australia
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 3 months or older
- Able to provide informed consent or have a parent/guardian provide consent
- Clinical or pathological diagnosis or suspected diagnosis of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as determined by the study team
You will not qualify if you...
- Diagnosed with an acquired bone marrow failure syndrome, including acquired aplastic anemia or hypoplastic myelodysplastic syndrome
- Already have a confirmed genetic diagnosis for the patient's blood condition
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Peter MacCallum Cancer Centre
Melbourne, Victoria, Australia
Actively Recruiting
Research Team
K
Kelsey Man, PhD
CONTACT
P
Piers Blombery, MBBS(Hons)
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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