Diamond Blackfan anemia registry
The purpose of this study is to maintain a comprehensive registry of patients with the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA). The objective of this study is to expand and update the DBAR in order to:
1. Facilitate investigations into the epidemiology and biology of Diamond Blackfan anemia;
2. Provide an accurate phenotype of DBA patients to facilitate genotype- phenotype correlations;
3. Provide access of well characterized patients to treatment protocols;
4. Provide patients to access to research studies;
5. Provide patients with results of research studies;
6. Serve as a resource to patients and their doctors to guide diagnostic, therapeutic, and reproductive decisions.
Phase I/II, Open-Label Study to Determine Safety and Efficacy of Sotatercept (ACE-011) in Adults with Red Blood Cell Transfusion-Dependent Diamond Blackfan Anemia
This study is testing a “bone-building” drug whose major use-limiting side effects is increased hemoglobin. The protocol has been open since December 2011. The accrual has been rapid and the third dose-escalation cohort is presently being treated without any untoward side effects. This study is supported by Celgene Corp.
The Use of Novel Therapies to Reconstitute Blood Cell Production and Promote Organ Performance, using Bone Marrow Failure as a Model: A Pilot, Phase I/II Study of the Amino Acid Leucine in the Treatment of Patients with Transfusion-Dependent Diamond Blackfan Anemia
SECOND STUDY PENDING
This study offers Leucine to DBA patients who are over age 2 years. Leucine has minimal toxicity and is known to increase the protein machinery. This study is funded through the Department of Defense (DOD) Telemedicine and Advanced Technology Research Center and is enrolling 50 patients in 17 institutions. Study enrollment began in June 2013.
Phase I/II, Open-Label Study to Determine Safety of Trifluoperazine (TFP) in Adults with Red Blood Cell Transfusion-Dependent Diamond Blackfan Anemia
The purpose of this study is to find an alternative treatment for patients with DBA who are dependent upon transfusions. This study will use a medication called trifluoperazine (TFP) and determine if it is safe for the treatment of DBA in adult patients who require chronic blood transfusions. This study is supported by CAMP4 Therapeutics.