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

Recruiting now

Conditions studied: Inherited BMF Syndrome, Inherited Platelet Disorder, Hematologic Diseases

In brief

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.

Key facts

Study ID

NCT05196789

Run by

Peter MacCallum Cancer Centre, Australia

People needed

350

Starts

2022-03-18

Expected to finish

2025-12-01

Last updated by the study team

2024-11-07

Who can join

Age: 0 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• age ≥ 3 months
• able to give informed consent (or parent/guardian able to give informed consent)
• a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as per the study team

You may not qualify if…

• A clinicopathological diagnosis of an acquired bone marrow failure syndrome (including acquired aplastic anaemia and hypoplastic myelodysplastic syndrome) as per the study team
• Existing definitive genomic diagnosis for patient's haematological phenotype

Where it is running

• Peter MacCallum Cancer Centre — Melbourne, Victoria, Australia (enrolling)

Full record on ClinicalTrials.gov

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