NCT05196789

Brief 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.

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
350

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Mar 2022

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

December 15, 2021

Completed
1 month until next milestone

First Posted

Study publicly available on registry

January 19, 2022

Completed
2 months until next milestone

Study Start

First participant enrolled

March 18, 2022

Completed
3.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2025

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2025

Completed
Last Updated

November 7, 2024

Status Verified

November 1, 2024

Enrollment Period

3.2 years

First QC Date

December 15, 2021

Last Update Submit

November 5, 2024

Conditions

Inherited BMF SyndromeInherited Platelet DisorderHematologic Diseases

Keywords

bone marrow failure syndromewhole genome sequencinghematological diseasespancytopenia

Outcome Measures

Primary Outcomes (1)

  • Definitive IBMFS-RD diagnosis

    IBMFS-RD diagnosis - An initial analysis of a panel of \~100 genes of established relevance to IBMFS-RD phenotype will be performed on all patients. If no molecular diagnosis is made from the panel of genes, further analysis on the genomic data will be performed using the best practice analytical tools and techniques. All results will be communicated to patients.

    3-12 months post baseline

Secondary Outcomes (5)

  • Develop a whole transcriptome gene expression classifier

    4 years

  • Cost-effectiveness of genomic testing in patients with suspected IBMFS-RD

    4 years

  • Budget-impact of genomic testing in patients with suspected IBMFS-RD

    4 years

  • Health implementation analyses regarding the acceptability of genomic testing

    4 years

  • Populate Registry

    4 years

Interventions

whole genome and transcriptome sequencingDIAGNOSTIC_TEST

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

Eligibility Criteria

Age3 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with suspected IBMFS-RD

You may qualify if:

  • age ≥ 3 months
  • able to give informed consent (or parent/guardian able to give informed consent)
  • a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as per the study team

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Peter MacCallum Cancer Centre

Melbourne, Victoria, Australia

RECRUITING

Related Publications (1)

  • Blombery P, Fox L, Ryland GL, Thompson ER, Lickiss J, McBean M, Yerneni S, Trainer A, Hughes D, Greenway A, Mechinaud F, Wood EM, Lieschke GJ, Szer J, Barbaro P, Roy J, Wight J, Lynch E, Martyn M, Gaff C, Ritchie D. Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes. Haematologica. 2021 Jan 1;106(1):64-73. doi: 10.3324/haematol.2019.237693.

    PMID: 32054657BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

blood, hair, skin

MeSH Terms

Conditions

Congenital Bone Marrow Failure SyndromesHematologic DiseasesBone Marrow Failure DisordersPancytopenia

Interventions

Base Sequence

Condition Hierarchy (Ancestors)

Bone Marrow DiseasesHemic and Lymphatic DiseasesInfant, Newborn, DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCytopenia

Intervention Hierarchy (Ancestors)

Molecular StructureBiochemical PhenomenaChemical PhenomenaGenetic StructuresGenetic Phenomena

Study Officials

  • Piers Blombery, MBBS(Hons)

    Peter MacCallum Cancer Centre, Australia

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Kelsey Man, PhD

CONTACT

61 3 8559 5000kelsey.man@petermac.org

Piers Blombery, MBBS(Hons)

CONTACT

piers.blombery@petermac.org

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

December 15, 2021

First Posted

January 19, 2022

Study Start

March 18, 2022

Primary Completion

June 1, 2025

Study Completion

December 1, 2025

Last Updated

November 7, 2024

Record last verified: 2024-11

Data Sharing

IPD Sharing
Will not share

Locations

AU(1)