● Recruiting

Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)

Condition: Inherited BMF Syndrome · Inherited Platelet Disorder · Hematologic Diseases · Sponsor: Peter MacCallum Cancer Centre, Australia

PhaseN/A

Planned participants350

Who can joinAll sexes, 3 Months to no upper limit

Healthy volunteersNo

About this study

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.

This description comes directly from the study's public registry record.

Talk to the study team

Kelsey Man, PhD · 61 3 8559 5000 · kelsey.man@petermac.org

Piers Blombery, MBBS(Hons) · piers.blombery@petermac.org

Always discuss trial participation with your own doctor first.

Locations (1)

Peter MacCallum Cancer Centre

Melbourne, Victoria, Australia

Recruiting

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Source record: clinicaltrials.gov/study/NCT05196789