Thank you for visiting the Diamond Blackfan Anemia Registry (DBAR) website.
We are pleased to announce the opening of:
“Mobilization of CD34+ peripheral blood stem cells with filgrastim (granulocyte-colony stimulating factor) and plerixafor from patients with Diamond Blackfan anemia syndrome”.
Purpose of this study: Gene therapy is a new possible treatment for the anemia of DBAS. Gene therapy will soon be available for patients with RPS19-mutated DBAS. This involves inserting the corrected RPS19 gene into the cells, leading to correction of the anemia. The application of gene therapy requires sufficient numbers of stem cells on which the correction can be performed. Stem cells must be mobilized (stimulated to move) from the bone marrow to the peripheral blood and then collected (also called ‘harvested’). It is not known if patients with DBAS can mobilize enough stem cells into the peripheral blood to allow for the harvesting of sufficient numbers to permit genetic manipulation. It is important to demonstrate the ability to harvest an adequate number of stem cells before gene therapy can be tried in patients with DBAS. The purpose of this study is to determine if mobilization of the bone marrow in patients with DBAS is enough to obtain the numbers of stem cells necessary for effective gene therapy. An actual harvest will not be done (see below). A total of 10 patients with DBAS will be enrolled on this study.
Who May be Eligible?
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Diamond Blackfan anemia syndrome, defined by the known criteria with a known gene mutation
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Male or female patients of all ethnic background, ≥3 years of age and weighing at least 10 kg, and ≤30 years of age
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Enrolled in Diamond Blackfan Anemia Registry of North America (DBAR)
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Chronically red blood cell transfusion dependent for at least 6 months
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Performance scale ≥ 70
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Must sign informed consent
Please contact Dr. Satty, Dr. Vlachos, or Dr. Lipton:
TEL: 877-322-6877 or 516-562-1505
Email: DBARegistry@northwell.edu
Diamond Blackfan Anemia has been renamed Diamond Blackfan Anemia Syndrome (DBAS) to include patients who are genetically diagnosed, but do not have anemia.
New advancements have been made in DBAS research. Progress is being made in gene therapy, for example, so each patient with DBAS should have their genetic mutation identified. Surveillance for development of cancer is also key to management of patients with DBAS.
It is also important to update the DBAR of your clinical status. Are you steroid dependent? Are you transfusion dependent? Or, are you treatment independent? Have you had a stem cell transplant? Have you developed cancer of any type?
The answers to these questions give researchers clues to management and therapy.
Please either scan or email your updated questionnaire to us or call us toll-free at (888) 884-3227.
If you have moved or have changed phone numbers, please call us with updated contact information.
Thank you - we are here to help you.
Your DBAR Team