Bethesda, Maryland

June 6, 2005


Dr. Daniel Armstrong, University of Miami; Dr. Michael DeBaun, Washington University; Dr. Paul Frenette, Mount Sinai School of Medicine; Dr. Johnson Haynes, University of South Alabama; Dr. Frans Kuypers, Childrens’ Hospital of Oakland Research Institute; Ms. Shirley Miller, Southwestern Comprehensive Sickle Cell Center; Dr. Dorothy Moore, Sickle Cell Disease Association of America; Dr. Eugene Orringer, University of North Carolina; Dr. Russell Ware, St. Jude Children’s Hospital; Dr. Theodore Wun, University of California Davis, Dr. Robert Sheffler, Trippler Army Medical Center



Dr. Joseph Desimone


Dr. Duane Bonds, DBDR/BDP, Dr. Oswaldo Castro, Howard University; Ms. Sally Crudder, CDC; Dr. Gregory Evans, DBDR/BDP; Ms. Judith Hagopian, HRSA; Dr. William Hannon, CDC; Dr. Marie Mann, HRSA; Dr. Blaine Moore DBDR/BDP; Dr. Charles Peterson, DBDR; Ms. Jane Restivo, Cooley’s Anemia Foundation; Ms. Sonya Ross, SCDAA, Dr. Ellen Werner, DBDR/BDP., Dr. William P. Winter, Howard University, Ms. Susan Pucie, NHLBI/DBDR, Dr. William H. Hannon, CDC, Dr. Terry Bishop, NIDDK/NIH, Dr. Georgia Persinos, PG Associates

Executive Secretary - Dr. Charles M. Peterson

Secretary - Ms. Petronella A. Barrow

Dr. Charles Peterson called the meeting to order at 8:30 am and led the introductions of members and guests.

  1. Dr. Ted Wun called for review of the minutes of November 1, 2004 and they were reviewed and approved unanimously.
  2. Dr. Wun welcomed the members and guests and introduced the Scientific Presentations.
  3. A. Dr. Paola Sebstiani reviewed her recent work on the Genetic Dissection and Prognostic Modeling of Overt Stroke in Sickle Cell Anemia (Nature Genetics Online 20 March, 2005). This work provides a proof of principle for the use of computational approaches to identify critical nodes in modifying genes for monogenetic diseases.

    B. Dr. Mark Gladwin and Dr. Roberto Machado presented an Update on Pulmonary Hypertension in Sickle Cell Disease and the use of Brain Natriuretic Peptide in the samples from the Multicenter Study of Hydroxyurea (MSH) Cohort. BNP is associated with pulmonary hypertension, appears to have predictive value and may ultimately serve as a surrogate marker for the condition. A motion was made and seconded that the Sickle Cell Disease Advisory Committee encourage the convening of a group dedicated toward previewing the best evidence for the identification of pulmonary hypertension in persons with sickle cell disease. The motion passed unanimously.

  4. Chairman’s Report:: Dr Wun provided an update on the Working Group on an Adult Provider Network. The concept of a network is making some progress despite the fact that there is little evidence based care that has been validated especially for the adult with sickle cell disease. The LISTSERV comprises approximately 130 people who use it as a forum for communication and problem solving. A liaison with ER physicians is being explored with an aim toward creating pain management guidelines. Reimbursement issues provide a continuing challenge toward providing the kind of care required for a comprehensive approach to a chronic disease such as sickle cell disease that targets an under served population.
  5. Agency Reports

    A. CDC: Dr. Harry Hannon provided information regarding the newborn screening program for sickle cell disease, administered by the Centers for Disease Control, and included their newsletter. Ms. Sally Crudder who works with the surveillance and outreach division of CDC mentioned their involvement with the Hemophilia, Thalassemia and Diamond Blackfan Anemia Organizations and offered their willingness to become involved with Sickle Cell Anemia should Congressional Funds be mandated.

    B. HRSA Dr. Marie Mann and Ms. Judy Hagopian from the Health Research and Services Administration presented their report. In response to the Talent Bill from Congress, HRSA has been given $200,000 to assemble a workshop and prepare a report regarding the needs for funding Sickle Cell Disease Clinical Centers (about 40) within the United States. This meeting took place and in April 2005 and the report is currently being written. Members from NIH were represented at the workshop. In conjunction with the American College of Medical Genetics, HRSA is in the process of producing a report for the Secretary of DHHS to introduce changes in the Newborn Screening system. Currently, newborn screening of infants for SCD is taking place in 49 states, New Hampshire being the only state not participating in the program. Currently HRSA funds 17 newborn screening centers for SCD within the USA. In addition to screening, HRSA works closely with the Comprehensive Sickle Cell Centers and the Sickle Cell Disease Association of America to offer follow-up counseling.

    C. Department of the Army. Dr. Robert Sheffler from the United States Army presented the report regarding Sickle Cell Disease in the armed forces. At present the armed forces do not screen persons at the time of enlistment, however, the Marines, the Air Force and the Navy do screen for sickle cell disease after enlistment. Dr. Sheffler continued with a discussion of what the armed forces are doing identify and monitor subjects who are identified to have sickle cell trait.

  6. DBDR Director’s Report: Dr. Peterson reviewed briefly the NHLBI budget and noted that the Institute was busy identifying strategies to protect core programs. Areas of high priority include maintenance of the R01 investigator initiated portfolio and the pipeline of new investigators and trainees. The area that will be examined most closely comprises high cost studies. The goal will be to continue to fund excellence in research with an increased emphasis on priority setting. Therefore it is important to look for opportunities to work together with other agencies, institutes and outside groups to achieve continued progress in the area of hemoglobinopathies.
  7. Institute Reports: National Institute of Diabetes, Digestive, and Kidney Disease (NIDDK). Dr. Terry Bishop reported on recent initiatives in the are of chelator development, detection of iron overload, and definition of pathways of iron metabolism that have been recently undertaken by the NIDDK. These issues are of intense interest to the wider sickle cell community as well.

  8. Update on Program Activities
  9. A. The NHLBI Strategic Plan for Hemoglobin Disorders In 2003, a workshop convened by NHGRI in conjunction with NHLBI and other institute, identified 10 priority areas that need to be addressed for the NIH to for Hemoglobin Disorders from which initiatives may be developed. These are:

      1- E-Mail LISTSERV for sickle cell disease research This is available now by sending an e-mail to .

      2- Clinical research network focused on Phase III clinical trials for sickle cell disease

      3- International, prospective registry and sample repository to support large scale human genetic studies for sickle cell disease (RFP or RFA)

      4- Training program for application of high-throughput genomic/proteomic technologies to hemoglobin disorders (RFA)

      5- Chemical genomics for sickle cell disease (RFA; leverages related portion of the NIH Roadmap effort)

      6- Research on ethical, legal, and social implications of human genetic studies for subjects with sickle cell disease (Notice in the Guide as addendum to existing Program Announcement)

      7- Novel idea grants for sickle cell disease (PA)

      8- Genetic modifiers of sickle cell disease (RFP or RFA;dependent on registry, with clinical phenotypes linked to DNA samples)

      9- Late stage drug development for hemoglobin disorders (RFP or RFA; will leverage related portion of the NIH Roadmap effort to the extent feasible)

      10- Gene therapy for hemoglobin disorders (RFA)

    In response to these priorities the NHLBI has approved an RFA to create a Clinical Research Network for Sickle Cell Disease to perform Phase II/III clinical studies/trials. The applications for this network have been received at NHLBI and the review will take place in the Fall of 2005. Applications will go to Council February 9, 2006 and funding is expected April 2006.

    In addition to the SCD CRN, NHLBI expects to renew the Thalassemia Clinical Research Network. A Work Group convened by Dr. Moore on June 29, 2005 will explore the possible research collaborations that can take place in Thalassemia and Sickle Cell Disease.

    It is expected that over the next five years the Thalassemia Clinical Research Network and the Sickle Cell Disease Clinical Research Network will develop collaborations in their common research interests. To facilitate this NHLBI will create a Hemoglobinopathies Coordinating Committee. This oversight committee will have the responsibility of facilitating clinical research being conducted by the two networks and the Comprehensive Sickle Cell Centers.

    B. Comprehensive Sickle Cell Centers Integration Committee Report : Dr. Evans reviewed the progress made by the centers, and the protocols under consideration. At present there are a number of intra- and inter-center clinical studies underway. Dr. Evans and Dr. Werner reported on the recent Evaluation Committee that was charged with reviewing the criteria for the next RFA for the Comprehensive Sickle Cell Centers. This report was given to the members of the SCDAC with a request for their comments by July 15, 2005. One recommendation by the Evaluation Committee was to include more innovative high risk translational research. The SCDAC recognized that this type of research rarely fairs well during reviews and that perhaps a category for this may need to be specified in the RFA. There was discussion about the role of the Patient Services Core in the CSCC since this component includes patient care, education and community outreach. Since this is now considered to be a major component of the application, it has been recognized that this Core should be scored rather than just approved. Dr. DeBaun raised the issue of accountability by the centers for their Scholars Program.

    C. MSH Patients’ Follow-up: Dr. Bonds noted that this is an epidemiological follow-up study for adult patients who have been treated with Hydroxyurea. Recently, serum samples collected during this study were made available to Drs. Gladwin and Machado at NHLBI to determine the levels of BNP and correlate with possible pulmonary hypertension. The results of this study were presented at the SCDAC meeting today and are presented above.

    D. Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG): Dr. Bonds reported that the Data Safety Monitoring Board for Baby HUG had met with investigators on Friday June 3, 2005. They were vigorously supportive of continuing the Trial. Dr. Bonds commented that the National Institute of Child Health and Development has agreed to support the trial to obtain pharmaco-kinetic data on hydroxyurea in young children. This funds are provided through the Best Pharmaceuticals for Children Act (BPCA) administered by NICHD.

    E. Stop II Trial: Dr. Bonds stated that the Stop II trial had been terminated early due to the stop rule for composite endpoints and because of clinical significance. The results of the study are expected to be published in the New England Journal of Medicine. A new trial is anticipated that will study the treatment of Sickle Cell Children who have suffered a stroke. It proposes that hydroxyurea coupled with phlebotomy may be an alternative to chronic transfusion therapy. The trial is referred to as SWITCH. This trial goes before NHLBI council in June 2005.

    F. Health-related Quality of Life: Dr. Werner reported that an RFP is in progress to develop an instrument to evaluate quality of life for adult sickle cell subjects. the contract is still in the negotiation stage. The Committee encouraged NHLBI to increase its efforts to quantify quality of life at all ages and stages of sickle cell disease. Such an effort is critical to the appropriate evaluation of clinical trials.

    G. Workshops/Projects: Dr. Evans noted that there is a Working Group on June 28, 2005 to examine Gene Therapy for Sickle Cell Disease and Thalassemia. Dr. Moore reported that the next day, on June 29, 2005, another Working Group has been assembled to assess possible research collaborations between Sickle Cell Disease and Thalassemia investigators. Dr. Bonds reminded members that the Clinical Meetings for Sickle Cell Disease has been scheduled for August 29 through September 2. At these meetings she plans to hold a Working Group to assess renal and urologic complications in Sickle Cell Disease. Dr. Evans stated that in early July, a working group, composed of two members from each CSCC, will develop a draft of the clinical definitions of the phenotypes for sickle cell disease. The SCDAC strongly recommended that physicians in sub-specialties other than hematology be allowed to provide input during this meeting.

  10. Suggestions for NHLBI from the Committee
  11. Two motions were put forth from the SCDAC to NHLBI. The first was to insure that sub-specialists in areas such as nephrology, gastroenterology, pulmonology, etc. be included during the preparation of the draft document to define phenotypes in sickle cell disease. The second was to recommend that patients with sickle cell disease be screened for pulmonary hypertension since this complication has a high correlation with death in this population.

  12. Reports from Public Interest Organizations
  13. A. Cooley’s Anemia Foundation: Report by Ms. Jane Restivo Ms. Restivo expressed her gratitude at being included in this important advisory committee. She stated that the Cooley’s Anemia Foundation of America has 15 chapters but is part of a larger international organization. She expressed the appreciation of the CAF for the development of the Thalassemia Clinical Research Network (NHLBI) and for the Blood Safety and Surveillance Program initiated recently by the CDC. She also thanked NIDDK for their continued interest in iron overload and the development of new iron chelators.

    B. Sickle Cell Disease Association of America: Ms. Sonia Ross reported that the SCDAA is now officially in Baltimore and that Dr. Willarda Edwards has been selected as the new President and Chief Operating Officer. The SCDAA will have their annual meeting at the inner harbor in Baltimore during September of this year. They expressed their appreciation of the funds that NHLBI have allotted for the new Clinical Research Network, for the change in the status of the Patient Services Core in the Comprehensive Centers Applications and for their participation in the Adult Provider Network which is being developed.

  14. Dates of Next Meetings
  15. November 7, 2005

    June 5, 2006

  16. Summary List of Action Items
  17. A. A report will be sought from SCDAA on the September Meeting feedback with a discussion about potential improvements.

    B. The next meeting of the Committee will begin at 8:30 AM. Minutes from the previous meeting and the draft agenda will be distributed ahead of time. A fact sheet will be developed detailing the Committee’s function and the Division for inclusion in the packet for each meeting.

    C. Dr. Helena Mishoe will be asked to present her new Office and its role to the committee.

    D. A speaker will be sought who can address the issue of psychosocial research in Sickle Cell Disease.

    E. Drs. Swerdlow, Lane and Ware will continue to address the issue of ICD 9 codes and sickle cell disease with the goal of contacting the AMA with suggestions early in 2003.

    F. Dr. Bonds will contact The Committee in December regarding the two proposed RFAs.


    Theodore Wun, M.D.


    Sickle Cell Disease Advisory Committee


    Charles M. Peterson, M.D.

    Executive Secretary

    Sickle Cell Disease Advisory Committee

    Last updated: October 28, 2007

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