RecruitingNCT05196789

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

Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)

Sponsor

Peter MacCallum Cancer Centre, Australia

Enrollment

350 participants

Start Date

Mar 18, 2022

Study Type

OBSERVATIONAL

Conditions

Hematologic Diseases Inherited BMF Syndrome Inherited Platelet Disorder

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.

Eligibility

Min Age: 3 Months

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying whole genome and transcriptome sequencing for people with hematologic diseases, inherited bmf syndrome, and other related conditions. The study is currently recruiting participants at 1 location. People eligible for this study include aged 3 Months and older.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

Interested in this trial?

Get notified about updates and connect with the research team.

Interventions

DIAGNOSTIC_TESTwhole genome and transcriptome sequencing

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

Locations(1)

Peter MacCallum Cancer Centre

Melbourne, Victoria, Australia

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

Visit

NCT05196789

Related Trials

The Implementation of the Go Wish Game to Promote Advance Care Planning in Onco- Hematologic Disease

NCT067958151 location

Autologous Testicular Tissue Transplantation

NCT054140451 location

Phase 1/2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab/CD19 Depleted HSCT

NCT068394561 location

Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease

NCT054775636 locations

Stem Cell Transplant From Donors After Alpha Beta Cell Depletion in Children and Adults With T-allo10 Cells Addback

NCT046409871 location