Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)
Peter MacCallum Cancer Centre, Australia
350 participants
Mar 18, 2022
OBSERVATIONAL
Conditions
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
Inclusion Criteria3
- 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
Exclusion Criteria2
- 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
Interested in this trial?
Get notified about updates and connect with the research team.
Interventions
To perform whole genome/transcriptome analysis of patients in a cohort of up to 350 Australian patients with IBMFS-RD
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT05196789