Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
Status:
Terminated
Trial end date:
2014-02-01
Target enrollment:
Participant gender:
Summary
Many genetic diseases of lymphohematopoietic cells (such as sickle cell anemia, thalassemia,
Diamond-Blackfan anemia, Combined Immune Deficiency (CID), Wiskott-Aldrich syndrome, chronic
granulomatous disease, X-linked lymphoproliferative disease, and metabolic diseases affecting
hematopoiesis) are sublethal diseases caused by mutations that adversely affect the
development or function of different types of blood cells. Although pathophysiologically
diverse, these genetic diseases share a similar clinical course of significant progressive
morbidity, overall poor quality of life, and ultimate death from complications of the disease
or its palliative treatment. Supportive care for these diseases includes chronic transfusion,
iron chelation, and surgery (splenectomy or cholecystectomy) for the hemoglobinopathies;
prophylactic antibiotics, intravenous immunoglobulin, and immunomodulator therapies for the
immune deficiencies; and enzyme replacement injections and dietary restriction for some of
the metabolic diseases. The suboptimal results of such supportive care measures have led to
efforts to implement more aggressive therapeutic interventions to cure these
lymphohematopoietic diseases. The most logical strategies for cure of these diseases have
been either replacement of the patient's own hematopoietic stem cells (HSC) with those
derived from a normal donor allogeneic bone marrow transplant (BMT) or hematopoietic stem
cell transplant (HSCT), or to genetically modify the patient's own stem cells to replace the
defective gene (gene therapy).