Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
Recruiting
Observational Study
Inherited BMF Syndrome
Inherited Platelet Disorder
Hematologic Diseases
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 3 Months and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 350 (estimated)
- Sponsor
- Peter MacCallum Cancer Centre, Australia · Other
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About This Trial
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.
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
1. age ≥ 3 months
2. able to give informed consent (or parent/guardian able to give informed consent)
3. a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as per the study team
Exclusion Criteria…
Contacts