Clinical trial · Observational
Longitudinal Studies of Patient With FPDMM
Longitudinal Studies of Patients and Families With Familial Platelet Disorders With Associated Myeloid Malignancy (FPDMM) Caused by RUNX1 Germline Variants or FPDMM-Like Conditions
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 12, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260912-000001
Summary
Brief summary (as posted)
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
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| FPDMM | — | UNRESOLVED | — |
| Inherited Hematological Diseases | — | UNRESOLVED | — |
| Rare Diseases | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (2)
- label
- Family
- description
- 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.
- label
- RUNX1
- description
- Patients enrolled in this protocol will have been referred with a known or suspected RUNX1 mutation.
Primary outcomes (1)
- measure
- Natural History
- timeFrame
- Ongoing
- description
- This protocol continues the decades-long tradition of identifying and examining patients with rare genetic diseases and characterizing the natural history.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 1 Day
- Maximum age
- 100 Years
Show eligibility criteria text
* 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.
References
Publications (3)
- DERIVEDKajdic A, Deuitch NT, Bresciani E, Chong S, Craft K, 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 May 12;10(9):3075-3085. doi: 10.1182/bloodadvances.2025017808. PMID 41616279
- DERIVEDYu 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
- DERIVEDCunningham 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