Longitudinal Studies of Patient With FPDMM

Rare Diseases Clinical Trial

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

Status Recruiting

Clinical Trial Summary

Background:

Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1. People with this disease may have problems with their blood and bleed for a long time when they are injured. Researchers want to learn more about RUNX1 variants and FPD.

Objective:

To learn more about FPD in people with RUNX1 variants to lead to better diagnosis, monitoring, and treatment.

Eligibility:

People any age with a suspected or confirmed RUNX1 variant

People who have a family member with the variant

Design:

All participants will be screened with a phone call and a blood, saliva, or cheek cell sample.

Participants with a suspected or confirmed variant will have 1 visit. It will last about 2 days. They will then have visits at least once a year.

Visits will include:

• Medical history and physical exam

• Blood tests or saliva sample

• Possible skin biopsy: A small piece of the participant s skin will be removed.

• Bone marrow aspiration or biopsy: The participant s bone marrow will be removed by needle from a large bone such as the hip bone.

• Possible apheresis: Blood will be removed from the body and certain blood cells will be taken out. The rest of the blood is returned to the body.

Between visits, participants with a suspected or confirmed variant will keep a diary of disease symptoms and signs.

Samples from all participants may be used for genetic testing

Clinical Trial Description

Germline mutations in RUNX1 are responsible for familial platelet disorder with associated myeloid malignancies (FPDMM, or simply FPD), an autosomal dominant disease characterized by defective megakaryocytic development, low platelet counts, prolonged bleeding times, and a life-long risk of developing hematological malignancies. Disease penetrance and clinical presentations vary among families with different germline RUNX1 variants, and even among affected individuals within a single family. Currently there are no biomarkers or assays to predict which patients will progress to malignancy, and some patients present with acute myeloid leukemia (AML) as their initial manifestation of the germline syndrome. We propose to characterize the etiology and natural history of patients with FPDMM and RUNX1 variants, both known and yet-to-be discovered. We will investigate those patients and families with FPDMM-like diseases but without RUNX1 variants, to understand the genetic basis for their diseases. In so doing, we will expand our knowledge about this disorder and provide access to patients of interest for research, teaching, and clinical experience. The knowledge gained through this study will lead to better understanding of the disease progression, both clinically and at molecular levels, which may result in the development of better diagnosis, monitoring, and innovative therapies. ;

Related Conditions & MeSH terms

• FPDMM
• Hematologic Diseases
• Inherited Hematological Diseases
• Rare Diseases

• NCT number: NCT03854318
• Study type: Observational
• Source: National Institutes of Health Clinical Center (CC)
• Contact: Natalie T Deuitch
• Phone: (301) 385-5205
• Email: natalie.deuitch@nih.gov
• Status: Recruiting
• Start date: March 28, 2019
• Completion date: December 31, 2028