You Can
Participate In Research Studies
To Help Not Only Your Child But All Patients With SDS.
"By sending blood, tissue, bone marrow or whatever is required by a
researcher/scientist, you can help that study get closer to its goals.
Please read below about the current open projects."
Hospital for Sick Children - Toronto, Ontario Canada
Ongoing research projects led by Peter Durie,
MD, Melvin Freedman, MD and Johanna Rommens, PhD are aimed towards
understanding the deficiencies in SDS. Information and patient
samples are being recruited to survey and test bone marrow and exercise
pancreatic dysfunction in order to achieve a better understanding of the
spectrum and manifestations of the clinical symptoms in this autosomal
recessive disease. Blood samples from all family members of
patients are also being recruited for ongoing molecular genetic studies
geared towards tracking the chromosomal defects in order to achieve
improvement in diagnosis and care of patients.
For further information on this research, please contact:
Lynda Ellis, Research Nurse Coordinator at 416-813-5515 or E-mail:
lynda.ellis@sickkids.ca
University of Texas - Medical Branch - Galveston, Texas
Patients with SDS usually have bone marrow
disease that causes decreased production of blood cells (bone marrow
failure). Patients usually have a low white cell count that may be
followed by low blood platelets and anemia, SDS patients are at risk of
developing myelodysplasia syndrome(MDS). The development of MDS
signifies a change in bone marrow cells that increases the risk for
developing acute leukemia. Early identification of the signs of
MDS would allow the clinician to consider a different therapeutic strategy
that may result in a better outcome for the patient. These
special studies can give sufficient indications of the change of the disease
to the preleukemic phase and the need to change therapy or to monitor the
patient closely for acute leukemia.
For information contact: Tarek Elghetany, MD (409) 747-2468
Research on Motility and Chemotaxis in SDS Neutrophils
Dr. Fred Goldman and Dr. David R. Soll, of
the University of Iowa, are studying neutrophil motility and chemotaxis in
SDS patients using advanced computer-assisted 2D and 3D motion analysis
systems. A recent study completed last year in Dr. Soll’s laboratory
demonstrated a very specific defect in chemotaxis that was reproducible in
all SDS patients that were examined. This is also consistent with several
earlier reports of neutrophil motility defects in SDS . The proposed studies
are important to SDS in many ways. First, it will shed light on this
disorder and may lead to predictions as to the underlying molecular basis of
SDS. Second, it may help explain certain clinical circumstances (e.g.
infection propensity), and offer the potential for developing strategies to
correct this defect (e.g. lithium therapy). For more information contact Dr.
Goldman’s immunology nurse coordinator, Catherine Figuoera RN at (319)
384-8101, or you may email Dr. Goldman at
frederick-goldman@uiowa.edu.
Etiologic Investigation of Cancer Susceptibility in
Inherited Bone Marrow Failure Syndromes (IBMFS)
The National Cancer Institute Institutional Review Board has given its
approval to open a study entitled "Etiologic Investigation of Cancer
Susceptibility in Inherited Bone Marrow Failure Syndromes." The principal
investigator responsible for this study is Blanche P. Alter, MD, MPH. This
study is open to patients with SDS, along with their immediate families.
Individuals with one of the inherited bone marrow failure syndromes, and
their parents, brothers, sisters, and children, are all invited to
participate. Those who come to the NIH Clinical (CC) will belong to the "CC
Cohort," and those who do not will belong to the "Field Cohort." Individuals
who choose to participate in the NCI IBMFS [Alter, Blanche (NCI)] Cohort
Study will be asked to complete a family history questionnaire and an
individual information questionnaire. Physical examinations and samples of
blood, bone marrow (from those affected with the disorder), and other
tissues may be requested for research studies.
Inherited bone marrow failure syndromes (IBMFS) are rare disorders in
which there is usually some form of aplastic anemia (failure of the bone
marrow to produce blood), associated with a family history of the same
disorder. Some of these conditions have typical changes in physical
appearance or in laboratory findings which suggest a specific diagnosis.
There are several well-described syndromes, which can be recognized by
health care experts. There are also patients who are harder to classify, but
who appear to belong in this category. Patients with these syndromes have a
very high risk of development of cancer [Alter, Blanche (NCI)] (leukemia or
solid tumors). At the moment we cannot predict which specific patient with
an IBMFS is going to develop cancer. The NCI IBMFS [Alter, Blanche (NCI)]
Cohort Study will enroll North American families in which at least one
member has or had an IBMFS.
The web page "marrowfailure.cancer.gov" describes the study and provides
contact information. By telephone, please contact Lisa Leathwood
1-800-518-8474 or you may also contact SDSF for more information.
Participation in the Studies of the Molecular Mechanisms
of Bone Marrow Failure
Our study is taking a comprehensive approach to the evaluation of
participants, which is necessary to truly understand the genetic
contribution to the development of disease. Individuals who wish to
participate will be asked to:
* Sign a consent form indicating your desire to participate,
* Complete a written medical and family history questionnaire,
* Submit a sample of blood (we can provide kits so a physician can draw
your blood), and
* Undergo a physical examination (for families in the St. Louis area
only).
Individuals will not be responsible for any costs associated with the
study. The confidentiality of all study related materials will be maintained
in accordance with State and Federal laws. To learn more about the study
please contact the study coordinator:
Jennifer Ivanovich, M.S., Study Coordinator:
Washington University School of Medicine
Box 8100, 660 W. Euclid Ave.,
St. Louis, Missouri 63110, USA
Phone: 314-454-5076
jen@ccadmin.wustl.edu
Monica Bessler, M.D., Ph.D., Co-Director
Division of Hematology
Washington University School of Medicine;
660 S. Euclid Ave., Box 8125;
St. Louis, MO 63110, USA
Phone 314-362-8807
Mbessler@im.wustl.edu
David Wilson, M.D., Ph.D. Co-Director
Division of Pediatric Hematology/Oncology
Washington University School of Medicine;
660 W. Euclid Ave., Box 8208;
St. Louis, MO 63110, USA
Wilson_D@kids.wustl.edu
