Longitudinal Studies of Patient With FPDMM

NCT03854318 | Recruiting

• 2 other identifiers: 19005919-HG-0059
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Rare Diseases; FPDMM; Inherited Hematological Diseases

Keywords

inherited hematological diseases; Rare Diseases; Hematological Malignancies; Cancer; Acute Myeloid Leukemia; Natural History

Outcome Measures

Primary Outcomes (1)

• Natural History

  This protocol continues the decades-long tradition of identifying and examining patients with rare genetic diseases and characterizing the natural history.

  Ongoing

Study Arms (2)

Family

Direct family members of enrolled patients will be asked to enroll in the study to provide specimens for genetic testing, next-generation sequencing, and other related studies.

RUNX1

Patients enrolled in this protocol will have been referred with a known or suspected RUNX1 mutation.

Eligibility Criteria

• Age: 1 Day - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients (and direct family members of patients) enrolled in this protocol will have been referred with a known or suspected RUNX1 mutation.

* 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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

• Kajdic A, Deuitch NT, Bresciani E, Chong SN, Craft KM, Davis J, Bashtawi R, McReynolds LJ, Giri N, Young DJ, Liu PP. Hematologic malignancies in pediatric patients with RUNX1-Familial Platelet Disorder with Associated Myeloid Malignancy. Blood Adv. 2026 Jan 30:bloodadvances.2025017808. doi: 10.1182/bloodadvances.2025017808. Online ahead of print.

  PMID: 41616279 DERIVED

• Yu K, Deuitch N, Merguerian M, Cunningham L, Davis J, Bresciani E, Diemer J, Andrews E, Young A, Donovan F, Sood R, Craft K, Chong S, Chandrasekharappa S, Mullikin J, Liu PP. Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy. Blood Adv. 2024 Jan 23;8(2):497-511. doi: 10.1182/bloodadvances.2023011165.

  PMID: 38019014 DERIVED

• Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP. Natural history study of patients with familial platelet disorder with associated myeloid malignancy. Blood. 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746.

  PMID: 37738626 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Rare Diseases; Platelet Disorder, Familial, with Associated Myeloid Malignancy; Hematologic Neoplasms; Neoplasms; Leukemia, Myeloid, Acute

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Neoplasms by Site; Hematologic Diseases; Hemic and Lymphatic Diseases; Leukemia, Myeloid; Leukemia; Neoplasms by Histologic Type

Study Officials

• Paul Liu, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Natalie T Deuitch

CONTACT

(301) 385-5205; natalie.deuitch@nih.gov

Paul Liu, M.D.

CONTACT

(301) 402-2529; pliu@nhgri.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 22, 2019
• First Posted: February 26, 2019
• Study Start: March 28, 2019
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): December 31, 2028
• Last Updated: April 24, 2026

Record last verified: 2026-03-18

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: pending
• Access Criteria: pending

Locations

US (1)