This document contains a genetics presentation on osteogenesis imperfecta (OI) types and treatment. It includes several links to external sources of information on OI and the genes involved. It summarizes previous research finding that bone marrow transplant improved growth, bone mineralization, and fracture frequency in children with OI. The presentation notes a current pilot study using bone marrow mesenchymal cell therapy to treat OI after removing cells that could cause rejection, in hopes of increasing growth and bone strength. It contains several citations and links on OI genetics and treatment.
14. Marrow Mesenchymal Cell Therapy for
Osteogenesis Imperfecta: A Pilot Study
previous research found that children treated with bone
marrow transplant began to grow faster, had more minerals
in their bones, and broke their bones less often than before
the bone marrow transplant.
It is hoped that by removing the CD3+ cells from the
donated bone marrow, the subject’s body will be infused
quite safely and that body growth and bone strength will
increase. The CD3+ cells will be removed from the donor
bone marrow by use of a machine called the CliniMACS
System. This machine has not been approved for use in
the United States by the Food and Drug Administration
(FDA). The use of this device is considered experimental.
Michael Kim, Jensen Law, Michael Lee, Shou Yi Poo (2004)
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Bank RA, Robins SP, Wijmenga C, Breslau-Siderius LJ, Bardoel AF, et al. Defective collagen cross-linking in
bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl
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Lapunzina P, Aglan M, Temtamy S, Caparrós-Martin JA, Valencia M, et al. Identification of a frameshift mutation in
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http://www.oif.org/site/PageServer?pagename=TypeI