Genomic analysis for patients with inherited bone marrow failure

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.