The Evaluating Multidisciplinary Bone Marrow Failure Care in Bone Marrow Failure and Related Disorders. (EMBRACE)

The Evaluating Multidisciplinary Bone Marrow Failure Care in Bone Marrow Failure and Related Disorders.(The EMBRACE Study)

This is a prospective hybrid implementation-effectiveness study of a model of care for patients with bone marrow failure syndromes and inherited predisposition to haematological malignancy that includes comprehensive diagnostic genomic evaluation, multidisciplinary case review, provision of clinical care including from clinical haematologists, medical geneticists and genetic counsellors.

Study Overview

• Status: Recruiting
• Conditions: Aplastic Anemia; Bone Marrow Failure Syndrome
• Intervention / Treatment: Other: model of care

Detailed Description

The inherited bone marrow disorders (IBMD) comprise both the traditional inherited bone marrow failure syndromes (BMFS) and the more recently described entity of germline predisposition to haematological malignancy. Patients with IBMD often present highly complex health issues that are unique and not commonly encountered. As a consequence, clinicians may feel less confident in managing these unique issues given their lack of frequent exposure to this patient group. Recent advances in genomics have resulted in more accurate diagnosis of IBMD and their subtyping and have resulted in a rapidly evolving field with multiple opportunities to improve patient outcomes.

Stage 1 of this study evaluated and quantified the current challenges faced by 3 stakeholder groups, patients with IBMD, patient advocates and nationally, clinicians who care for IBMD patients. The results demonstrated that the challenges described in Stage 1 may be overcome by instigating a multidisciplinary approach to care for BMF patients. Interventions designed to address the challenges identified in stage 1 form the model of multidisciplinary care to be implemented in the Peter MacCallum Cancer Centre/ Royal Melbourne Hospital clinic. The model of care involves:

1. Provide access to genetic testing with expert result interpretation
2. Presentation of clinical information and relevant investigations (including genetic) at a multidisciplinary team meeting involving haematologists, molecular haematopathologists, clinical genetics, genetic counsellors, scientists and specialised nurses.
3. Provision of a suggested care plan to clinician
4. Genetic counselling and provision of written disease specific information including details of suggested care plan to patient
5. Genetic counselling and provision of written information and access to testing for at risk family members
6. Dedicated team focused on many individually rare diseases with a demonstrated focus on provision of comprehensive care
7. Opportunity to participate in local and international research

The EMBRACE study will focus on evaluating the model of care.

• Study Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

• Study Contact: Name: Mary Panjari, PhD; Phone Number: 03 8559 5000; Email: mary.panjari@petermac.org

Study Locations

• Australia
  • Victoria
    • Melbourne, Victoria, Australia, 3000
      • Recruiting
      • Peter MacCallum Cancer Centre
      • Sub-Investigator: Lucy Fox

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with a diagnosis of inherited bone marrow disorder (IBMD) including traditional inherited bone marrow failure syndromes (BMFS) and germline predisposition to haematological malignancy who meet all the inclusion criteria will be eligible for participation in this study.

Description

Inclusion Criteria:

Patients must meet all the following criteria for study entry:

1. Age > or = 18 years at enrolment
2. Able to give informed consent (or responsible family member able to give informed consent)
3. Patient is receiving care under the institutional guidelines/stream model of care

Exclusion Criteria:

1. Patient not eligible for management under the model of care

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
BMFS patients; Patients with BMFS attending Peter MacCallum Cancer Centre haematology clinic.	Other: model of care; Multidisciplinary model of care for BMFS patients.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
to assess the effectiveness and implementation of the model of care through a mixture of objective metrics and patient /physician reported outcomes	Effectiveness - patient/physician reported outcomes of satisfaction with model of care as measured by questionnaire Implementation - compliance with of model as measured by audit against pre-specified key performance indicators	12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To assess longitudinal quality of life assessment in patients being treated with the model	Longitudinal quality of life assessment in patients being treated with the model measured by the EORTC QLQ-C30	12 months
To quantitate healthcare usage of patients within the model	Quantitate healthcare usage of patients within the model measured by questionnaire	12 months

Collaborators and Investigators

• Sponsor: Peter MacCallum Cancer Centre, Australia
• Investigators: Principal Investigator: Piers Blombery, MBBS(Hons), Peter MacCallum Cancer Centre, Australia

Study record dates

Study Major Dates

• Study Start (Actual): June 9, 2021
• Primary Completion (Anticipated): April 1, 2023
• Study Completion (Anticipated): April 1, 2024

Study Registration Dates

• First Submitted: March 24, 2021
• First Submitted That Met QC Criteria: March 24, 2021
• First Posted (Actual): March 29, 2021

Study Record Updates

• Last Update Posted (Actual): August 23, 2021
• Last Update Submitted That Met QC Criteria: August 16, 2021
• Last Verified: August 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Bone Marrow Diseases; Hematologic Diseases; Anemia; Anemia, Aplastic; Bone Marrow Failure Disorders; Pancytopenia
• Other Study ID Numbers: 21/44

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No