What is the role of bone marrow transplantation (BMT) in the treatment of osteogenesis imperfecta (OI)?

Updated: Feb 24, 2020
  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD  more...
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Answer

Bone marrow transplantation (BMT) has been advocated as a potential future therapeutic modality for OI. Transplantation of adult bone marrow in utero has been shown to decrease perinatal lethality in a murine model of OI.

Bone marrow contains both hematopoietic stem cells and mesenchymal stem cells (MSCs), the latter being the precursors of osteoblasts. Because there are very few MSCs in the average human bone marrow graft, approaches involving expansion of the number of MSCs in ex-vivo cultures with subsequent infusion into the recipient have been advocated.

Such cell therapies usually result in somatic mosaicism, where normal and abnormal osteoblasts exist in the same body. Unfortunately, a higher proportion of engrafted normal cells is required to achieve the level of normal osteoblasts necessary for functional correction of the OI phenotype. Furthermore, the use of immunosuppressive agents to prevent graft rejection and graft-versus-host reaction can itself damage bone.

Future approaches include the autografting of genetically modified mutant osteoblasts, whereby the mutant collagen gene is inactivated. These therapies are several years away from clinical reality.


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