Brief Title
The Evaluating Multidisciplinary Bone Marrow Failure Care in Bone Marrow Failure and Related Disorders.
Official Title
The Evaluating Multidisciplinary Bone Marrow Failure Care in Bone Marrow Failure and Related Disorders.(The EMBRACE Study)
Brief Summary
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.
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
Primary Outcome
to assess the effectiveness and implementation of the model of care through a mixture of objective metrics and patient /physician reported outcomes
Secondary Outcome
To assess longitudinal quality of life assessment in patients being treated with the model
Condition
Bone Marrow Failure Syndrome
Intervention
model of care
Study Arms / Comparison Groups
BMFS patients
Description: Patients with BMFS attending Peter MacCallum Cancer Centre haematology clinic.
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Other
Estimated Enrollment
100
Start Date
April 2021
Completion Date
April 2024
Primary Completion Date
April 2023
Eligibility Criteria
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
Gender
All
Ages
18 Years - N/A
Accepts Healthy Volunteers
No
Contacts
Piers Blombery, MBBS(Hons), 03 8559 5000, [email protected]
Location Countries
Australia
Location Countries
Australia
Administrative Informations
NCT ID
NCT04819607
Organization ID
70477
Responsible Party
Sponsor
Study Sponsor
Peter MacCallum Cancer Centre, Australia
Study Sponsor
Piers Blombery, MBBS(Hons), Principal Investigator, Peter MacCallum Cancer Centre, Australia
Verification Date
March 2021