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

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