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

Launched by PETER MACCALLUM CANCER CENTRE, AUSTRALIA · Jan 4, 2022

Keywords

ClinConnect Summary

The IBMDx Study is a clinical trial aimed at understanding inherited bone marrow failure syndromes (IBMF) and related conditions by analyzing the genetic information of patients. Researchers will use advanced techniques to look closely at the DNA and gene activity of 350 individuals who may have these disorders. The goal is to improve the ability to diagnose these conditions, which can lead to better treatment options for patients.

To participate in this study, individuals must be at least 3 months old and either able to provide their own consent or have a parent or guardian who can do so. They should have a diagnosis or suspected diagnosis of an inherited bone marrow failure syndrome or a related disorder. However, people with acquired forms of bone marrow failure or those who already have a clear genetic diagnosis for their condition will not be eligible. Participants can expect to undergo genetic testing, and their information may help advance the understanding of these conditions for future patients.

Gender

ALL

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