Click here to learn more about this prestigious event honoring Dr. Lipton.

Dear DBA Patients and Families:

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

For years, physician scientists have been trying to model the abnormal blood cell production that occurs in patients with DBA. These efforts have involved studies on yeasts, flies, fish and mice.  Human models have been difficult to create and previously relied on samples of patient bone marrow. As published this week in BLOOD, a group of collaborating scientists at The Children’s Hospital of Philadelphia show that skin cells from patients with DBA can be reprogramed so that, instead of skin, they start to produce blood cells (http://www.ncbi.nlm.nih.gov/pubmed/23744582). These reprogrammed cells, termed induced pluripotent stem cells (iPSCs) show defects in blood production that are characteristic of DBA when compared to iPSCs from normal individuals.  The work also demonstrates that the abnormal blood cell production is caused by the genetic mutation, because when the reprogramed cells are corrected for the mutation, blood cell production becomes near normal. Thus, for the first time, DBA can be modeled in the culture dish and each model is specific for the patient from whom the skin cells were taken. Moreover, the genetic defect can be corrected in iPSCs, suggesting new approaches for gene therapy.  This new technology is likely to accelerate progress in understanding DBA. For example we can compare reprogramed cells from individual patients who have only mild anemia to those from their relatives who are transfusion dependent or we can test new (and old) medications to identify ones that improve blood cell production with less toxicity than steroids. In the longer term blood cells produced in the culture dish may one day be used for patient specific therapy. Although there still is a long way to go, these are exciting times for DBA patients and research.  Importantly, this progress would not be possible without the support of DBA patients and families, including their participation in research.  (For more information and/or study participation in iPSC research for DBA, contact Weissmi@chop.edu and Besslerm@email.chop.edu).

The NHLBI and NIDDK are seeking high quality collaborative proposals for the RO1 opportunity described below. The Daniella Foundation hopes each of you will consider developing submissions to meet the Institute’s interest in expanding critical research in this area.

Update and Reminder for the NHLBI and NIDDK sponsored Ribosomal Disorders and Their Role in Inherited Bone Marrow Failure Syndromes (R01).

We’re happy to report that the NHLBI funding line for this RO1 has been nearly doubled and is now being funded at 11% instead of 6% with Early-Stage Investigators receiving up to an additional 10 percentile points. The NIDDK’s funding line will continue at 11% with an additional 5 percentile points offered to Early-State Investigators!

This program announcement encourages applications from institutions/organizations that propose collaborative research projects by multi-disciplinary teams to advance our understanding of molecular and cellular mechanisms underlying ribosomal dysfunction.  These research areas include effects on hematopoiesis and their role in bone marrow failure syndromes. Multi-disciplinary expertise across basic and clinical components is encouraged.  To meet the objectives of this FOA applicants are encouraged to integrate ribosomal biology with bone marrow failure to develop and characterize models of ribosomopathies.

A full synopsis of this Program Announcement FOA Number: PA-11-121 can be viewed by clicking here.

‘SHINE’ on DBA…!

DMAF is encouraging all DBA researchers to submit proposals to the National Institute of Diabetes and Digestive and Kidney Diseases Stimulating Hematology Investigation: New Directions in Hematology Research (SHINE-II) (R01).

Reminder for the NIDDK sponsored SHINE II Program Announcement New Directions in Hematology Research (SHINE-II) (R01) 

This is a great opportunity to submit research proposals that can help advance the understanding of DBA as it relates to the principal areas of interest within this NIDDK sponsored Program, which include: (1) hematopoietic stem cell biology and hematopoiesis, (2) erythroid cell biology and erythropoiesis, (3) the molecular biology of heme and hemoglobin, (4) acquired and congenital disorders of red blood cell production and survival leading to chronic anemia, (5) the uptake, utilization, storage, and transport of iron in health and disease, (6) and the structure and function of leukocytes and myeloid precursor cells.

A full synopsis of this Program Announcement FOA Number: PAS-13-006 can be viewed by clicking here.

Congresswoman Carolyn McCarthy (NY-4)

Please join us in sending positive energy and prayers to our friend Congresswoman Carolyn McCarthy (NY-4) who was recently diagnosed with a form of treatable Lung Cancer. As many of you know, Congresswoman McCarthy has been a tireless advocate for the DBA community, helping to give us a voice in Washington, D.C. From leading the effort to pass a DBA Resolution on the Floor of Congress, to supporting DBA initiatives within the NIH and CDC, to helping to raise awareness for DBA research among her Congressional and White House colleagues in fun ways, including her yearly effort to collect signatures on a children’s book for the Foundation’s yearly fundraising efforts. As one of the strongest people we know, we have full confidence that she will make a full recovery and ask for your prayers and support for her and her family during this time.

DMAF's own, Shannon Scott, attended the 2013 Rare Disease Week in Washington, D.C. Here, she is pictured with a number of influential individuals to rare diseases, including Congressman Tim Bishop.

The Daniella Foundation was proud to represent the Diamond Blackfan Anemia community February 25 – March 1 at the 2013 Rare Disease Week in Washington DC.

In addition to participating in the “Rare Disease Lobby Day” on Capitol Hill, hosted by Rare Disease Legislative Advocates, the Daniella Foundation also attended the two-day Rare Disease Day briefings at the National Institutes of Health presented by the Office of Rare Diseases (ORD), National Center for Advancing Translational Sciences (NCATS) and the NIH Clinical Center.

DMAF and buncee appreciate Kozmetics' continued support!

The Daniella Maria Arturi Foundation is so grateful for all the wonderful people and organizations that continue to support our efforts to fund research to find a cure for DBA. We wanted to take a special opportunity to thank a special new supporter, Shellie Kozbial, who has graciously set up a unique fundraising campaign through her company Lip Candies by Kozmetics, where part of the proceeds from her online sales have been donated to the Daniella Foundation.

Thank you, Shellie and your team at Lip Candies by Kozmetics!

This year's copy of House Mouse Senate Mouse being signed by a few members of Capitol Hill.

This year’s copy of House Mouse Senate Mouse, written and illustrated by Peter W. and Cheryl S. Barnes, being signed by a few of our key government influences.

We are excited to announce that with the amazing help of Congresswoman Carolyn McCarthy this year’s book will be another amazing one-of-a-kind book that features the signatures of: President Obama, Vice President Biden, Former President Clinton, and Political Comedian, Stephen Colbert of Comedy Central’s “The Colbert Report”. Congresswoman McCarthy is one of DBA’s most passionate advocates and we are forever grateful for her commitment to our DBA community of families, doctors and researchers and for her continued efforts to find fun and unique ways for us to raise funds to continue DBA research and advocacy.

Stay tuned for auction details for the new House Mouse Senate Mouse autographed book!