RUNX1 Research Program

Patient-Partnered Collaboration
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RUNX1-FPD (also known as RUNX1-FPDMM or FPD-AML) is a rare inherited disease caused by a mutation in the RUNX1 gene, resulting in lower blood platelet counts, platelet dysfunction, and an increased risk of early-onset blood cancers. Individuals with this disease primarily develop acute myeloid leukemia (AML), the second deadliest blood cancer. RUNX1-FPD patients often face a range of health issues including asthma, allergies, autoimmune disorders and gastrointestinal problems.

Last updated May 2024

Clinical
Disease Class
Rare hematological diseases
Body Systems
Digestive
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Respiratory
Organs
Blood
Bone marrow
Connective tissue / joints
Intestines
Skin
Genes
RUNX1
Type of Inheritance
Autosomal dominant
De novo
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Infancy (age 0-1)
Incidence
Unknown
Prevalence
10000+
Symptoms / Phenotypes
allergic rhinitis
asthma
bruising susceptibility
cancer, leukemia
colitis
conjunctivitis
hemorrhage/bleeding
joint pain / arthralgia
myelodysplasia
Sjogren's Syndrome
skin redness and/or swelling
Biomarkers
Diagnostic
· Genetic testing for pathogenic RUNX1 variants ranging from single nucleotide changes to whole gene deletions.
Monitoring
· Bone marrow NGS monitoring using a myeloid malignancy panel, depending on age and risk factors BMB’s often occur annually
Prognostic
· No validated biomarkers but physicians use somatic mutation acquisition as a sign of progression and depending on the affected gene as a proxy for aggressiveness based on sporadic myeloid malignancy data.
Existing Therapies
None
Organizational & Research
Cell Lines
Cancer/tumor cells
CD34 cells
Fibroblasts
iPSCs
LCLs
Organoids
Cell Lines, location
Boston Children's Hospital
NIH
Oregon Health and Sciences University (OHSU)
Stanford University
University of Pennsylvania (PENN)
Cell Lines, share
Yes
Disease Model
Mouse
Organoids
Zebrafish
Disease Model, location
Boston Children's Hospital
ENCORE Erasmus MC Sofia Children's Hospital
Memorial Sloan Kettering Cancer Center
University of Massachusetts (UMass)
University of Pennsylvania (PENN)
Disease Model, share
Yes
Clinical Trial Role
Data sharing
Focus group
Funding
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Results dissemination, publication
Study material design, review (not protocol)
Study protocol design, review
Travel coordination
Biobank
University of Pennsylvania (PENN)
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
Other
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
REDCap
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Director of Operations/Director of Development
Executive Director
Patient Engagement Manager/Director
Science Advisory Board Policies
Does not have an SAB
Research Network Policies
Does not have a CRN
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
None