Currently aplastic anemia aplastic anemia: (ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most… is treated with immunosuppressive therapy immunosuppressive therapy: Immunosuppressive drug therapy lowers your body's immune response. This prevents your immune system from attacking your bone marrow, allowing bone marrow stem cells to grow, which raises blood counts. For older patients with acquired aplastic anemia, immunosuppressive drug therapy is the… (IST) or a bone marrow transplant bone marrow transplant: A bone marrow transplant (BMT) is also called a stem cell transplant (SCT) or hematopoietic stem cell transplant (HSCT).The procedure replaces unhealthy blood-forming stem cells with healthy ones and offers some patients the possibility of a cure. But for many patients, a BMT is not an option due… . Approximately 30% of aplastic anemia patients treated with IST are refractory refractory: Not responsive to treatment or cure. For example, refractory anemia is a low red blood cell count that doesn't respond to standard treatments. to treatment or develop myelodysplastic syndromes (MDS) and leukemia. Tests to predict which patients will fare poorly to immunosuppressive therapy would inform upfront treatment decisions. We will utilize cutting edge genomic technologies to screen for genetic markers predictive of poor outcomes with IST. This study will develop a novel diagnostic tool for aplastic anemia to guide treatment decisions with the goal of improving patient survival.
Project Title: Genetic predictors of response to
immunosuppressive therapy
immunosuppressive therapy:
Immunosuppressive drug therapy lowers your body's immune response. This prevents your immune system from attacking your bone marrow, allowing bone marrow stem cells to grow, which raises blood counts.
For older patients with acquired aplastic anemia, immunosuppressive drug therapy is the…
for
aplastic anemia
aplastic anemia:
(ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most…
Currently, aplastic anemia is treated with immunosuppressive therapy (IST) or a
bone marrow transplant
bone marrow transplant:
A bone marrow transplant (BMT) is also called a stem cell transplant (SCT) or hematopoietic stem cell transplant (HSCT).The procedure replaces unhealthy blood-forming stem cells with healthy ones and offers some patients the possibility of a cure. But for many patients, a BMT is not an option due…
.
Approximately 30% of aplastic anemia patients treated with IST are refractory refractory: Not responsive to treatment or cure. For example, refractory anemia is a low red blood cell count that doesn't respond to standard treatments. to treatment or develop myelodysplastic syndrome (MDS) and leukemia. Tests to predict which patients will fare poorly with immunosuppressive therapy would inform upfront treatment decisions. We are utilizing cutting edge genomics technologies to screen for genetic markers predictive of poor outcomes with IST. This study will develop a novel diagnostic tool for aplastic anemia to guide treatment decisions with the goal of improving patient survival. In the first year of this study we have completed our retrospective chart review for analysis of clinical outcomes and performed genetic sequencing for 94 pediatric and young adult patients with aplastic anemia. Analysis of the genetic data is ongoing. Early results have already identified pathogenic mutations and validation studies are in progress. The study has also been extended to include children and young adults with MDS.
Currently, aplastic anemia aplastic anemia: (ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most… is treated with immunosuppressive therapy immunosuppressive therapy: Immunosuppressive drug therapy lowers your body's immune response. This prevents your immune system from attacking your bone marrow, allowing bone marrow stem cells to grow, which raises blood counts. For older patients with acquired aplastic anemia, immunosuppressive drug therapy is the… or a bone marrow transplant bone marrow transplant: A bone marrow transplant (BMT) is also called a stem cell transplant (SCT) or hematopoietic stem cell transplant (HSCT).The procedure replaces unhealthy blood-forming stem cells with healthy ones and offers some patients the possibility of a cure. But for many patients, a BMT is not an option due… . Approximately 30% of aplastic anemia patients treated with immunosuppressive therapy are refractory refractory: Not responsive to treatment or cure. For example, refractory anemia is a low red blood cell count that doesn't respond to standard treatments. to treatment and 10-15% develop myelodysplastic syndrome (MDS) or leukemia. Pediatric MDS is treated with a bone marrow transplant, but patients with genetic syndromes are at increased risk of transplant-related toxicities and post-transplant complications. Tests to predict which patients will fare poorly with immunosuppressive therapy or standard transplant regimens would inform upfront treatment decisions. We utilized cutting edge genomics technologies to screen for genetic markers predictive of poor outcomes with immunosuppressive therapy or bone marrow transplant. We found that a significant subset (5- 10%) of pediatric and young adult patients with bone marrow failure bone marrow failure: A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be… and MDS would benefit from broad genetic screening to inform treatment and medical management. This genetic panel is now available for clinical testing.