Longitudinal Studies of Patient With FPDMM
| Status: | Recruiting |
|---|---|
| Conditions: | Hematology |
| Therapuetic Areas: | Hematology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/6/2019 |
| Start Date: | April 10, 2019 |
| End Date: | December 31, 2028 |
| Contact: | Paul Liu, M.D. |
| Email: | pliu@nhgri.nih.gov |
| Phone: | (301) 402-2529 |
Inherited 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 mutations, 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 AML as
their initial manifestation of the germline syndrome. We propose to characterize the etiology
and natural history of patients with RUNX1 mutations, both known and yet-to-be discovered. 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 a
molecular level, which may result in the development of better diagnosis, monitoring, and
innovative therapies.
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 mutations, 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 AML as
their initial manifestation of the germline syndrome. We propose to characterize the etiology
and natural history of patients with RUNX1 mutations, both known and yet-to-be discovered. 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 a
molecular level, which may result in the development of better diagnosis, monitoring, and
innovative therapies.
Inherited 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 mutations, 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 AML as
their initial manifestation of the germline syndrome. We propose to characterize the etiology
and natural history of patients with RUNX1 mutations, both known and yet-to-be discovered. 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 a
molecular level, which may result in the development of better diagnosis, monitoring, and
innovative therapies.
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 mutations, 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 AML as
their initial manifestation of the germline syndrome. We propose to characterize the etiology
and natural history of patients with RUNX1 mutations, both known and yet-to-be discovered. 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 a
molecular level, which may result in the development of better diagnosis, monitoring, and
innovative therapies.
- INCLUSION CRITIERIA:
- Patients enrolled in this protocol will have been referred with a known or suspected
RUNX1 mutation.
- Direct family members of enrolled patients will be asked to enroll in the study to
provide specimens (blood, saliva, or buccal swabs) for genetic testing,
next-generation sequencing, and other related studies.
- Enrolled subjects (patients and unaffected family members) must be one month of age or
older.
EXCLUSION CRITIERIA:
-Prisoners
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
301-496-2563
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
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