Observing patients with familial platelet disorder and RUNX1 variants

Longitudinal Studies of Patients and Families With Familial Platelet Disorders With Associated Myeloid Malignancy (FPDMM) Caused by RUNX1 Germline Variants or FPDMM-Like Conditions

This study is looking to learn more about patients with a specific blood disorder caused by RUNX1 gene changes, including how it affects them and their families, to find better ways to treat and manage the condition.

Quick facts

• Study type: Observational
• Enrollment: 1000 (estimated)
• Ages: 1 Day to 100 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (nih)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT03854318 on ClinicalTrials.gov

What this trial studies

This observational study aims to gather detailed information about patients with familial platelet disorder with associated myeloid malignancies (FPDMM) caused by RUNX1 gene variants. Participants, including those with confirmed or suspected RUNX1 variants and their unaffected family members, will undergo medical evaluations, genetic testing, and yearly follow-up visits. The study seeks to identify biomarkers for disease progression and severity, as well as to explore psychosocial impacts and potential new therapeutic strategies. Biological samples collected will contribute to understanding the disease mechanisms and improving clinical care.

Who should consider this trial

Good fit: Ideal candidates include individuals of any age with a suspected or confirmed RUNX1 variant or those with a family member who has the variant.

Not a fit: Patients without a RUNX1 variant or those not exhibiting symptoms of familial platelet disorder may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnosis, monitoring, and treatment options for patients with familial platelet disorder.

How similar studies have performed: Other studies focusing on genetic variants in hematological diseases have shown promise, suggesting that this approach could yield valuable insights.

Eligibility criteria

* INCLUSION CRITIERIA:

Patients enrolled in this protocol will have been referred with a known or suspected variant in the RUNX1 gene. Patients with suspected RUNX1 variants are those with clinical features of FPD but who have not been tested for RUNX1, or who were negative on standard testing. The Principal Investigator, along with consulting specialists, will review the medical records of prospective patients and offer enrollment based upon the potential to help the individual, to learn from the patient, or to initiate clinical or basic research suggested by the patient's workup. Persons interested in participation may be given a screening questionnaire to determine eligibility. The questions about hematologic manifestations in the screening questionnaire are important to help us determine if RUNX1 variants are likely to be pathogenic, or if there is a high clinical suspicion of RUNX1 (abnormal platelets, bleeding, bruising, leukemia etc.). Unaffected family members may be asked to enroll in the study to provide specimens (saliva, blood, skin) for genetic testing, next-generation sequencing, and other related studies. Enrolled subjects can be any sex and any age. There are no upper or lower age restrictions on this study.

EXCLUSION CRITIERIA:

There are no exclusionary criteria.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)

Study contacts

• Principal investigator: Paul Liu, M.D. — National Human Genome Research Institute (NHGRI)
• Study coordinator: Natalie T Deuitch

Conditions: Inherited Hematological Diseases, Rare Diseases, FPDMM, inherited hematological diseases, Hematological Malignancies, Cancer, Acute Myeloid Leukemia, Natural History