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

NCT05196789 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 350

Last updated 2024-11-07

No results posted yet for this study

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 (IBMFS-RD) in order to increase the genomic diagnostic rate in IBMFS.

Conditions

Interventions

DIAGNOSTIC_TEST

whole genome and transcriptome sequencing

To perform whole genome/transcriptome analysis of patients in a cohort of up to 350 Australian patients with IBMFS-RD

Sponsors & Collaborators

  • National Health and Medical Research Council, Australia

    collaborator OTHER

  • University of Melbourne

    collaborator OTHER

  • Peter MacCallum Cancer Centre, Australia

    lead OTHER

Principal Investigators

  • Piers Blombery, MBBS(Hons) · Peter MacCallum Cancer Centre, Australia

Eligibility

Min Age
3 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-03-18
Primary Completion
2025-06-30
Completion
2025-12-31

Countries

  • Australia

Study Locations

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Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05196789 on ClinicalTrials.gov