Observing patients with familial platelet disorder and RUNX1 variants

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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
• Email: natalie.deuitch@nih.gov
• Phone: (301) 385-5205

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.