Longitudinal Studies of Patient With FPDMM

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Feb 23, 2019

Keywords

ClinConnect Summary

This clinical trial is studying familial platelet disease (FPD) and its related conditions, particularly those caused by changes in the RUNX1 gene. People with this condition may have bleeding issues, especially after injuries. The goal of the trial is to better understand these genetic changes, which can help improve how doctors diagnose and treat patients with FPD.

Anyone of any age who has a suspected or confirmed RUNX1 variant, or has a family member with this variant, might be eligible to participate. Participants will go through a screening process and then have a visit lasting about two days, where they will undergo various tests, including blood tests and possibly a skin or bone marrow sample. Between visits, participants are asked to keep a journal of any symptoms they experience. This study aims to gather valuable information that could lead to better care for individuals with FPD and related diseases.

Gender

ALL

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.