CHIP/CCUS Natural History Protocol

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Sep 24, 2019

Keywords

ClinConnect Summary

The CHIP/CCUS Natural History Protocol is a clinical trial designed to understand two conditions: Clonal Hematopoiesis of Indeterminate Potential (CHIP) and Clonal Cytopenia of Undetermined Significance (CCUS). CHIP is a change in DNA that can increase the risk of blood cancers and heart disease, while CCUS involves having lower levels of certain blood cells. Researchers aim to learn how these conditions develop over time and how they may be linked to other health issues.

To participate, you must be at least 18 years old and have specific DNA changes associated with these conditions. Participants will go through several health tests, including blood and urine samples, heart and lung function tests, and scans of the liver and heart. If you qualify, you will attend follow-up visits at least once a year for up to 10 years, where you'll repeat some of these tests. This trial is currently recruiting participants, and it's a valuable opportunity to contribute to important research that could help improve understanding and treatment of these conditions.

Gender

ALL

Eligibility criteria

• * Participants with Clonal Hematopoiesis of Indeterminate Significance (CHIP):
• INCLUSION CRITERIA:
• • Greater than or equal to 18 years of age
• • Willingness and capacity to provide written informed consent
• • Presence of a somatic pathogenic variant associated with hematological malignancy
• • Variant allele fraction of greater than or equal to 2% in at least one identified somatic pathogenic variant
• EXCLUSION CRITERIA:
• • Known diagnosis of a hematological malignancy or bone marrow failure syndrome (excluding MGUS or MBL)
• * Presence of a cytopenia:
• • --Hemoglobin, \<10 g/dL; platelet count, \<100 X 10\^9 /L; or absolute neutrophil count, \<1.5 X 10\^9 /L
• • Pregnant at the time of recruitment
• • Treatment with previous chemotherapy or radiotherapy
• Participants with Clonal Cytopenia of Uncertain Significance (CCUS):
• INCLUSION CRITERIA:
• • Greater than 18 years of age
• • Willingness and capacity to provide written informed consent
• • Presence of a somatic pathogenic variant associated with hematological malignancy without morphological evidence of
• • myelodysplasia and without a MDS defining cytogenetic abnormality
• • Variant allele fraction of greater than or equal to 2% in at least one identified somatic pathogenic variant
• • Bone marrow aspirate and biopsy excluding hematological malignancy and MDS
• • Presence of a cytopenia for \>30 days
• • Hemoglobin, \<10 g/dL; platelet count, \<100 X10\^9 /L; or absolute neutrophil count, \<1.5 X10\^9 /L
• • At least 2 CBCs documented in a non-hospitalized patient at least 3 days apart
• EXCLUSION CRITERIA:
• • Known diagnosis of a hematological malignancy or bone marrow failure syndrome (excluding MGUS or MBL)
• • Morphological evidence of dysplasia on bone marrow aspirate / biopsy 10% dysplastic cells in any hematopoietic lineage
• • Ringed sideroblasts \>15%
• • Presence of MDS defining cytogenetic abnormality
• • del(7q)
• • del(5q)
• • 17q or t(17p)
• • del(13q)
• • del(11q)
• • del(12p) or t(12p)
• • del(9q)
• • idic(X)(q13)
• • t(11;16)
• • t(3;21)
• • t(1;3)
• • t(2;11)
• • inv(3)/t(3;3)
• • t(6;9)
• • --Note: As a sole cytogenetic abnormality in the absence of morphological criteria, gain of chromosome 8, del(20q) and loss of chromosome Y are not considered definitive evidence of MDS.
• • Alternate hematological diagnosis causing cytopenia
• • Pregnant at time of recruitment
• • Previous chemotherapy or radiotherapy