Genomic analysis for patients with inherited bone marrow failure
Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)
This study is testing if advanced genetic testing can help identify the causes of inherited bone marrow failure in patients, so they can get better treatment and support.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 350 (estimated) |
| Ages | 3 Months and up |
| Sex | All |
| Sponsor | Peter MacCallum Cancer Centre, Australia Academic / other |
| Drugs / interventions | chemotherapy |
| Locations | 1 site (Melbourne, Victoria) |
| Trial ID | NCT05196789 on ClinicalTrials.gov |
What this trial studies
This project aims to perform whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) on 350 patients suspected of having inherited bone marrow failure syndromes and related disorders. The goal is to enhance the genomic diagnostic rate for these rare conditions, which often lead to significant morbidity and early mortality. By establishing precise diagnoses, the study seeks to inform treatment choices, optimize stem cell transplant procedures, and provide genetic counseling for affected families. The research addresses the underdiagnosis of these syndromes due to limited access to genomic testing.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 3 months and older with a suspected diagnosis of inherited bone marrow failure syndrome or related disorders.
Not a fit: Patients with acquired bone marrow failure syndromes or those who already have a definitive genomic diagnosis for their hematological condition may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could significantly improve diagnostic accuracy and treatment options for patients with inherited bone marrow failure syndromes.
How similar studies have performed: Other studies utilizing genomic sequencing for rare hematological disorders have shown promise, indicating potential success for this approach.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Melbourne, Victoria
- Peter MacCallum Cancer Centre — Melbourne, Victoria, Australia (Recruiting)
Study contacts
- Principal investigator: Piers Blombery, MBBS(Hons) — Peter MacCallum Cancer Centre, Australia
- Study coordinator: Kelsey Man, PhD
- Email: kelsey.man@petermac.org
- Phone: 61 3 8559 5000
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.