The DBAR has noted that many patients with DBA have issues that may be due to the hormone-producing gland (endocrine) system abnormalities, including short stature, thyroid dysfunction, delayed puberty in both boys and girls, and diabetes. We are interested in determining if these problems are due to long-term continuous steroid use, iron overload from transfusion therapy or from DBA itself. We are therefore recommending an endocrine evaluation for all DBA patients, those with endocrine issues and those without. We are hoping to assist those with endocrine abnormalities as well as document what they are. We are also gathering information on patients without endocrine problems to see if we can screen for them, predict them in advance, and possibly treat them before they occur.
The Divisions of Pediatric and Adult Endocrinology at Cohen Children’s Medical Center and North Shore LIJ Health System, respectively, in collaboration with the Diamond Blackfan Anemia Registry (DBAR) are conducting a research study to understand the effects of steroid and blood transfusion therapy on the endocrine system in patients with Diamond Blackfan anemia. Researchers wish to compare the endocrine function of DBA patients (those receiving and not receiving blood transfusions) to patients with beta-thalassemia major who are also treated with chronic transfusions.
You may be eligible to participate in this study if you are:
- Age 1-39 years; and
- Diagnosed with DBA; and
- Enrolled in DBA Registry (DBAR)
You may not participate in this study if you are:
- Pregnant; or
- Have received a bone marrow transplant
If interested please contact Eva Atsidaftos or Ellen Muir at the DBAR at 888-884-3227 or Dr. Amit Lahoti (Pediatric Endocrinology fellow) at 516-472-3769 or 516-472-3750.
Participation in the study involves a standard endocrine evaluation. This includes blood tests that can be ordered and drawn at your institution. In this study, we will ask for a usual endocrine evaluation on steroid dependent patients, red cell transfusion dependent patients, as well as those patients in remission. The participation consent asks for permission for the DBAR and our endocrinology collaborators to receive the endocrine evaluation results. We will hopefully be able to have some results available by this summer. Our goal is 75 DBA patients and 25 thalassemia patients total for the study. THANK YOU IN ADVANCE FOR YOUR PARTICIPATION!!!