Status:
RECRUITING
Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
Lead Sponsor:
Peter MacCallum Cancer Centre, Australia
Collaborating Sponsors:
National Health and Medical Research Council, Australia
University of Melbourne
Conditions:
Inherited BMF Syndrome
Inherited Platelet Disorder
Eligibility:
All Genders
3+ years
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 (I...
Detailed Description
IBMFS-RD are a heterogeneous group of rare diseases resulting in significant morbidity and early mortality. These syndromes are individually and collectively rare (affecting \<1 per 10,000 people) and...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
March 18 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2025
Estimated Enrollment :
350 Patients enrolled
Trial Details
Trial ID
NCT05196789
Start Date
March 18 2022
End Date
December 1 2025
Last Update
November 7 2024
Active Locations (1)
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1
Peter MacCallum Cancer Centre
Melbourne, Victoria, Australia