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Upcoming Clinical Trials:

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1.  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”.

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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.

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Who May be Eligible?

  • Diamond Blackfan anemia syndrome, defined by the known criteria with a known gene mutation 

  • Male or female patients of all ethnic background, ≥3 years of age and weighing at least 10 kg, and ≤30 years of age

  • Enrolled in Diamond Blackfan Anemia Registry of North America (DBAR)

  • Chronically red blood cell transfusion dependent for at least 6 months

  • Performance scale ≥ 70

  • Must sign informed consent 

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Please contact Dr. Satty, Dr. Vlachos, or Dr. Lipton:

TEL:  877-322-6877 or 516-562-1505
Email: DBARegistry@northwell.edu

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2. We are pursuing a second clinical trial using a higher dose of L-leucine for both transfusion dependent patients AND steroid dependent patients!

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The results of our pilot trial of leucine were quite promising (https://onlinelibrary.wiley.com/doi/abs/10.1002/pbc.28748). We had 43 patients who completed the trial. There were no significant adverse events in any of our patients. Two patients had a complete response and no longer require transfusions and 5 patients showed an increase in their reticulocyte counts. Of the patients with growth potential 44% showed an increase in growth velocity. Given the safety of L-leucine along with these results, we plan to pursue our next clinical trial using an even higher dose of leucine.

 

Who May Be Eligible?

  • Patients that have been transfusion dependent for at least 6 months,

  • Patients who have baseline hemoglobin less than or equal to 9.5 g/dL and are taking more than 0.3 mg/kg/day of steroid medication OR greater than 20 mg of Prednisone a day for more than 6 months’ duration

  • Patients must be at least 2 years of age

  • Patients must not be on L-leucine for at least 3 months to be allowed to enroll on this study

As always, we thank each of you for your help in advancing the treatment of DBAS.

We will let everyone know when this trial is open.

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