Childhood Cancer

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Creating an Infrastructure for Collaborative Clinical Research and Publication of Consensus Guidelines for RUNX1 Familial Platelet Disorder

The Cleveland Clinic Foundation
Brittany Stewart, PhD
Grant Type: 
RUNX1 Early Career Investigator Grants
Year Awarded: 
Type of Childhood Cancer: 
Leukemia, Acute Myeloid Leukemia (AML)
Project Description: 

RUNX1-familial platelet disorder is one of a group of inherited platelet conditions that can run in families. Platelets are blood cells that are important for helping with forming clots and preventing bleeding. Individuals with RUNX1-familial platelet disorder have decreased platelet counts, which makes them more susceptible to bleeding symptoms such as easy bruising, nose bleeds, gum bleeding, or prolonged bleeding following surgery or trauma. They also have an increased risk to develop blood cancers such as leukemia. The condition is caused by harmful changes or mutations in the RUNX1 gene, which is why it is named RUNX1-familial platelet disorder.
Genetic testing can identify individuals that have a RUNX1 mutation. The goal is for knowing about RUNX1-familial platelet disorder in a family to allow for better treatment and prevention of cancer for these individuals. However, at this time, we don’t have clear clinical guidelines for how to treat patients with RUNX1-familial platelet disorder that are guided by scientific evidence and agreed upon by expert healthcare providers. To get there, we need to bring healthcare providers together to collaborate on research and develop better guidelines. Having clinical guidelines will help to standardize care for individuals with RUNX1-familial platelet disorder and help improve outcomes and quality of life for these individuals and their families.

Project Goal:

The goal of this project is to build a strong network of healthcare providers, including physicians and genetic counselors, that have experience working with patients with RUNX1-familial platelet disorder and a desire to work together to improve the care and quality of life for these patients and their families. Using this network, we will create a strategic plan for clinical research in order to build evidence to support the creation of clinical guidelines for RUNX1-familial platelet disorder. We will work with the RUNX1 Research Program to build a repository of patient samples and data that can be shared to support collaborative research. We will partner with patient representatives throughout the process to ensure that our work is centered around the experience and needs of the families we are trying to help. We will also share the results of our work including the developed guidelines with both medical and patient communities online through podcasts and webinars.

Co-funded by: 
The RUNX1 Research Program