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 04/30/2026

Clinical

Disease Class

Cancer

Cancer predisposition syndromes

Genetic diseases

Hematological diseases

Neoplastic diseases

Body Systems

Digestive

Hematopoietic / Lymphatic / Immune

Integumentary / Exocrine

Respiratory

Organs

Blood

Bone marrow

Connective tissue / joints

Intestines

Skin

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

RUNX1

Contributory Genes

BCOR

DNMT3A

FLT3

PHF6

TET2

Type of Inheritance

Autosomal dominant

De novo

Newborn Screening

Disease Mechanism(s)

Aberrant immune response

Autoinflammatory disorder

Transcriptional regulation defect

mTOR pathways dysregulation

Age of Onset

Infancy (age 0-1)

Average Age at Diagnosis

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Affected Sex(es)

Female

Intersex

Male

National Prevalence

10000+

Global Prevalence

Unknown

National Incidence

Less than 10

Global Incidence

Unknown

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

Off-Label Drug Use

Other

· At time of hematologic malignancy a hematopoietic stem cell transplant is almost always required

Therapies in Development

Cellular therapies (stem cell transplants, CAR-T therapies, etc.)

· harvesting and banking CD34+ cells

Repurposed drug

· Sirolimus, imatinib

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Data analysis

Funding

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Results dissemination (including publications)

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Travel coordination

Organizational & Research

Cell Lines

CD34 cells

iPSCs

LCLs

Cell Lines, Institution

Boston Children's Hospital

Mt. Sinai

NIH

Oregon Health and Sciences University (OHSU)

Stanford University

University of Pennsylvania (PENN)

Cell Lines, Involvement

Consulted

Funded

Cell Lines, share

All our cell lines are freely available

Disease Model

Mouse

Organoids

Zebrafish

Disease Model, Involvement

Funded

Disease Model, share

All our disease models are freely available

Organizational Challenges

The challenges we are facing now is how to expand from a pilot study to a larger Phase 2 study. It's too difficult to ask patients to travel to one or two clinical study sites. We want to pursue a decentralized trial approach for our Phase 2 assuming the data continue to look compelling from our pilot study which we just expanded from 6 patients to 12.

Clinical Trial Role

Data sharing

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

Clinical Trial Types

Other

Phase 1

Phase 2

Biobank, Institution

University of Pennsylvania (PENN)

Biobank, Involvement

Funded

Center of Excellence, Institution

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

Matrix

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

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We are working on obtaining an ICD-10 code

Diagnostic Guidelines

In the process of creating diagnostic guidance for our website

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN and willing to share policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None