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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT05196789




Registration number
NCT05196789
Ethics application status
Date submitted
15/12/2021
Date registered
19/01/2022
Date last updated
6/04/2022

Titles & IDs
Public title
Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
Scientific title
Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)
Secondary ID [1] 0 0
77923
Universal Trial Number (UTN)
Trial acronym
IBMDx
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Inherited BMF Syndrome 0 0
Inherited Platelet Disorder 0 0
Hematologic Diseases 0 0
Condition category
Condition code
Blood 0 0 0 0
Haematological diseases
Blood 0 0 0 0
Haematological diseases
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Diagnosis / Prognosis - whole genome and transcriptome sequencing

Diagnosis / Prognosis: 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
Intervention code [1] 0 0
Diagnosis / Prognosis
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Definitive IBMFS-RD diagnosis
Timepoint [1] 0 0
3-12 months post baseline
Secondary outcome [1] 0 0
Develop a whole transcriptome gene expression classifier
Timepoint [1] 0 0
4 years
Secondary outcome [2] 0 0
Cost-effectiveness of genomic testing in patients with suspected IBMFS-RD
Timepoint [2] 0 0
4 years
Secondary outcome [3] 0 0
Budget-impact of genomic testing in patients with suspected IBMFS-RD
Timepoint [3] 0 0
4 years
Secondary outcome [4] 0 0
Health implementation analyses regarding the acceptability of genomic testing
Timepoint [4] 0 0
4 years
Secondary outcome [5] 0 0
Populate Registry
Timepoint [5] 0 0
4 years

Eligibility
Key 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
Minimum age
3 Months
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key 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

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
18/03/2022
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/12/2025
Actual
Sample size
Target
350
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Peter MacCallum Cancer Centre - Melbourne
Recruitment postcode(s) [1] 0 0
- Melbourne

Funding & Sponsors
Primary sponsor type
Other
Name
Peter MacCallum Cancer Centre, Australia
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
National Health and Medical Research Council, Australia
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
University of Melbourne
Address [2] 0 0
Country [2] 0 0

Ethics approval
Ethics application status

Summary
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 website
https://clinicaltrials.gov/ct2/show/NCT05196789
Trial related presentations / publications
Blombery P, Fox L, Ryland GL, Thompson ER, Lickiss J, McBean M, Yerneni S, 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.
Public notes

Contacts
Principal investigator
Name 0 0
Piers Blombery, MBBS(Hons)
Address 0 0
Peter MacCallum Cancer Centre, Australia
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Kelsey Man, PhD
Address 0 0
Country 0 0
Phone 0 0
61 3 8559 5000
Fax 0 0
Email 0 0
kelsey.man@petermac.org
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT05196789