Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy

Kang, Peter B.; Lidov, Hart G.W.; White, Alexander; Mitchell, Matthew; Balasubramanian, Anuradha; Estrella, Elicia; Bennett, Richard Rodney; Darras, Basil T.; Shapiro, Frederic; Bambach, Barbara; Kurtzberg, Joanne; Gussoni, Emanuela; Kunkel, Louis M.

doi:10.1002/mus.21702

Cited by 20 publications

(20 citation statements)

References 25 publications

(27 reference statements)

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“…The other cases in which other potentially myogenic cells were studied or are being studied in humans, either gave negative results, as bone marrow derived cells [90,91], or were not used in conditions that allowed assessing the engraftment, as CD133+ cells [109], or the results are still being awaited, as is the case of mesoangioblasts [99]. The main lesson of the saga of clinical trials of myoblast transplantation is that certain crucial elements, such as the adequate control of acute rejection and the quantitative definition of the injection parameters, must be well defined in appropriate animal models before being applied to humans.…”

Section: Discussionmentioning

confidence: 99%

“…One of them was a DMD patient that received bone marrow transplantation at the age of 1 year to treat an X-linked severe combined immunodeficiency; 13 years after that treatment, donor nuclei were detected by fluorescent in situ hybridization in only 0.5-0.9% of the myofibers [90]. The other case was a boy in which chronic granulomatous disease was treated at 16 months of age with transplantation of umbilical cord-derived stem cells to reconstitute the hematopoietic compartment and was diagnosed later with DMD [91]. Several studies demonstrated that the presence of donor-derived hematopoietic cells was unable to correct the genetic defect in the skeletal muscles [91].…”

Section: Heterodox Myogenic Cellsmentioning

confidence: 99%

“…The other case was a boy in which chronic granulomatous disease was treated at 16 months of age with transplantation of umbilical cord-derived stem cells to reconstitute the hematopoietic compartment and was diagnosed later with DMD [91]. Several studies demonstrated that the presence of donor-derived hematopoietic cells was unable to correct the genetic defect in the skeletal muscles [91].…”

Section: Heterodox Myogenic Cellsmentioning

confidence: 99%

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Cell Transplantation and “Stem Cell Therapy” in the Treatment of Myopathies: Many Promises in Mice, Few Realities in Humans

Skuk

2013

ISRN Transplantation

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Myopathies produce deficits in skeletal muscle function and, in some cases, progressive and irreversible loss of skeletal muscles. The transplantation of myogenic cells, that is, cells able to differentiate into myofibers, is an experimental strategy for the potential treatment of some of these diseases. The objectives pursued by the transplantation of these cells are essentially three: (a) the fusion with the patient's myofibers to obtain the expression of therapeutic proteins into them, (b) the neoformation of new functional myofibers in skeletal muscles that were too degenerated by the progressive degeneration, and (c) the formation of a new pool of healthy donor-derived satellite cells. Although the repertoire of myogenic cells appears to have expanded in recent years, myoblasts are the only cells that have been demonstrated to engraft in humans. The present work aims to make a comprehensive review of the subject, from its beginnings to recent advances, including the preclinical experience in different animal models and recent clinical findings.

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Section: Discussionmentioning

confidence: 99%

Section: Heterodox Myogenic Cellsmentioning

confidence: 99%

Section: Heterodox Myogenic Cellsmentioning

confidence: 99%

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Cell Transplantation and “Stem Cell Therapy” in the Treatment of Myopathies: Many Promises in Mice, Few Realities in Humans

Skuk

2013

ISRN Transplantation

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“…The other cases in which other potentially myogenic cells were studied or are being studied in humans, either gave negative results, as bone-marrow derived cells [34,35], were not used in conditions that allowed assessing the engraftment, as CD133+ cells [36], or the results are still being awaited, as is the case of mesoangioblasts [37].…”

Section: Cells With Myogenic Capacity: Candidates For Transplantamentioning

confidence: 95%

Transplantation of Myogenic Cells in Duchenne Muscular Dystrophy Patients

Skuk¹,

Tremblay²

2015

Translational Regenerative Medicine

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“…In the case reported by Kang et al, the DMD manifestations developed several years after the successful treatment of CGD by allogeneic stem cell transplantation [13]. This male child had a large scale deletion spanning the region between CYBB and DMD on the X chromosome.…”

Section: Introductionmentioning

confidence: 99%

Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review

et al. 2011

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Chronic Granulomatous Disease (CGD), a disorder of the NADPH oxidase system, results in phagocyte functional defects and subsequent infections with bacterial and fungal pathogens (such as Aspergillus species and Candida albicans). Deletions and missense, frameshift, or nonsense mutations in the gp91phox gene (also termed CYBB), located in the Xp21.1 region of the X chromosome, are associated with the most common form of CGD. When larger X-chromosomal deletions occur, including the XK gene deletion, a so-called "Contiguous Gene Deletion Syndrome" may result. The contiguous gene deletion syndrome is known to associate the Kell phenotype/McLeod syndrome with diseases such as X-linked chronic granulomatous disease, Duchenne muscular dystrophy, and X-linked retinitis pigmentosa. These patients are often complicated and management requires special attention to the various facets of the syndrome.

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Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy

Abstract: Introduction-We report a boy who received two allogeneic stem cell transplantations from umbilical cord donors to treat chronic granulomatous disease (CGD). The CGD was cured after the second transplantation, but 2½ years later, he was diagnosed with Duchenne muscular dystrophy (DMD).

Cited by 20 publications

References 25 publications

Cell Transplantation and “Stem Cell Therapy” in the Treatment of Myopathies: Many Promises in Mice, Few Realities in Humans

Cell Transplantation and “Stem Cell Therapy” in the Treatment of Myopathies: Many Promises in Mice, Few Realities in Humans

Transplantation of Myogenic Cells in Duchenne Muscular Dystrophy Patients

Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review

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