We are pleased to announce the opening of:
“The Use of Novel Therapies to Reconstitute Blood Cell Production and Promote Organ Performance, using Bone Marrow Failure as a Model:
A Pilot, Phase II Study of the Amino Acid Leucine in the Treatment of Patients with Transfusion-Dependent Diamond Blackfan Anemia”

Diamond Blackfan Anemia (DBA) is a rare pure red cell anemia resulting from a failure of the bone marrow to make red blood cells. The anemia may present in infancy, in childhood, or occasionally in adulthood. For some patients a genetic cause for DBA can be found but for others no known genetic mutation is known at this time. Some patients have little or no anemia after treatment with steroids, whereas others may need continuous red blood cell transfusions or steroid therapy for a long time, sometimes for life. Steroids may control DBA in many patients at first, but after some time, the steroids may not work as well anymore. Red cell transfusions have many possible negative side effects, such as iron overload. Iron overload can occur in the liver, heart, and endocrine organs which can cause more complicated health problems such as liver or heart failure, diabetes, thyroid issues, etc.

Purpose of this project

The purpose of this study is to find an alternative treatment for patients with DBA who are dependent on transfusions, to better their quality of life. This study will use an amino acid supplement called leucine. The Department of Defense Telemedicine and Advanced Technology Research Center (TATRC) will fund up to 17 centers throughout the United States to participate in this study. A total of 50 patients with Diamond Blackfan anemia are expected to join this study.

About the study drug, Leucine

Leucine is widely available in health food stores as a food/nutritional supplement. Leucine is the only dietary protein that is able to help the muscles to make more protein. It is also used commonly by athletes to increase muscle mass. It has been used in infants who don’t have normal leucine levels. This medicine comes as in a powder form that is mixed in water or other liquid and swallowed. Mild gastrointestinal upset has been noted in patients who are receiving leucine as a liquid through a vein. This study will include only oral leucine.

Description of procedure

This study is nine months long. The patient will receive a complete physical exam as well as blood tests every 3-4 weeks, during his/her scheduled transfusion. Additionally, blood tests will be monitored every 2 weeks for the first month of the study. The patient will take the leucine 3 times per day, as a capsule, which can be opened so the powder can be mixed in a liquid and will continue the red cell transfusions as routinely scheduled, every 3-4 weeks.

The following are some of the basic inclusion and exclusion criteria for this pilot trial.

Inclusion Criteria

• Diagnostic and supporting criteria for the diagnosis of DBA
• Transfusion dependent
• Age 2 years and older
• Negative pregnancy test
• Signed informed consent

Exclusion Criteria

• Have a know allergy to leucine, isoleucine, norvalie, valine, methylalanine.
• Evidence of kidney or liver dysfunction
• Pregnancy, or plans to become pregnant during duration of trial

Please refer to the website link: http://www.clinicaltrials.gov and enter the search term “Diamond-Blackfan Anemia and leucine” for full eligibility criteria and additional trial information.

CONTACT INFORMATION

Principal Investigator:
Dr. Adrianna Vlachos, Cohen Children’s Medical Center of NY

Scientific Co-Investigators:
Monica Bessler, MD, PhD, Children’s Hospital of Philadelphia
George Buchanan, MD, University of Texas Southwestern Medical Center
Steven R Ellis, PhD, University of Louisville
Bertil Glader, MD, PhD, Stanford University
Jeffrey M. Lipton, MD, PhD, Cohen Children’s Medical Center of NY
Zora Rogers, MD, University of Texas Southwestern Medical Center
Colin Sieff, MD, Dana Farber Cancer Institute

Please contact our study nurse, Ellen Muir:
TEL: 1-877-DBA-NURSe (322-6877) or 516-562-1505
FAX: 516-562-1599
Email: emuir@nshs.edu

Also, feel free to contact Dr. Vlachos by email: avlachos@nshs.edu

Click here to download a PDF of this announcement

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.

Eligibility Criteria:
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!!!

The Diamond Blackfan Anemia Foundation (DBAF) would like to announce the addition of Anthony Marchese to the Board of Directors.

Anthony brings to the Board a wealth of professional experience, as well as the passion of a father dedicated to bettering the health and well-being of his child… and yours. We are excited to capitalize on Anthony’s unique skills to help us further our mission of advancing research initiatives that promote a better understanding, therapeutic strategies and a cure for Diamond Blackfan Anemia.

Anthony commented on what he most looks forward to as a DBAF board member,

“Virtually all of the money raised by the Foundation is from grassroots fundraising activities and generous donations from families and friends of those affected by DBA. As we learned from our recent success with the Chase Community Giving Program there are numerous opportunities to leverage our family fundraising efforts through grants to the DBA Foundation from philanthropic organizations and other funding entities. Most of these opportunities will require the DBA Foundation to submit detailed grant proposals. Fortunately, this is what I do for a living and it will be an honor and privilege for me to bring that expertise to the board.”

With the DBAF’s recently assumed responsibilities of representing DBA at the American Society of Hematology (ASH) meeting, and coordinating the biannual International Consensus Conference (ICC), Anthony’s experience in conference organization and grant writing will be an invaluable asset.

We warmly welcome Anthony to the Diamond Blackfan Anemia Foundation’s Board of Directors and look forward to working together to serve our common goals. With Anthony’s help, we will continue to provide patient advocacy, support and education services to individuals, families and medical professionals resulting in improvements in the diagnosis, clinical treatment and management of the disorder, while enhancing the quality of life of affected families worldwide. Thank you, Anthony, for your willingness to share your time and talents!

Editor’s note: It is important to understand that the award rate on the type of grants that Anthony has experience with is only 10%, therefore we must accept that the primary responsibility of fundraising will remain with our families. We thank YOU, the very families that believe in, and are relying on, the work of the DBAF, for continuing to support our shared mission!!

And the winner of the last $100,000 spot in the Chase Community Giving Program is…. overcoming a deficit of 1617 votes in the last 12 hours is…. couldn’t have done it without their amazing families and friends is… the very humble and grateful … Diamond Blackfan Anemia Foundation! At 7:00pm we took the lead by 48 votes. We worked tirelessly throughout the night and at midnight we had secured 16,123 votes! We claimed 11th place (out of over 7000 charities!) by 721 votes! Each one of those votes over the past 14 days added to our win, not just in number, but in our hearts. Early voters put us at the top of the leaderboard right from the start inspiring us that we really could do this. Those votes in the middle of the competition gave us confidence that $100,000 was within our reach, if we preserved. Last minute voters were part of the final day push that we needed to take it home. Thank you, thank you, thank you one and all. YOU made this happen!

Our hope for a cure depends on research. Your continued support of our mission is needed and appreciated. Your donation will help us fulfill our mission of supporting DBA patients, families, and research. Thank you for your kind consideration. To make a paypal or credit card donation please click the donate button above. Checks can be mailed to the Diamond Blackfan Anemia Foundation, P.O. Box 1092, West Seneca, NY 14224.