Gene And Cell Therapy For Inborn Errors Of Metabolism
Cary O. Harding
Published 2017 · Medicine
Download PDFAnalyze on Scholarcy
Shortcomings in contemporary therapy for inborn errors of metabolism (IEM) support the need for the development of novel treatment modalities. Cell therapy and gene therapy offer the promise of permanent cures for these rare disorders. The fundamental bases for both therapeutic approaches along with the therapeutic challenges are outlined in this chapter. For either technique, success lays in the ability to stably and safely provide sufficient and physiologically relevant numbers of non-disease cells in a target tissue to significantly affect the disease phenotype. The experimental rationale for these treatment approaches has been proven in animal models, and this review will focus upon clinical attempts at cell and gene therapy in human patients. Recent clinical trial successes in hemophilia, inherited immunodeficiency, genetic retinopathies, lipoprotein lipase (LPL) deficiency, the cerebral degenerative form of X-linked adrenoleukodystrophy, and metachromatic leukodystrophy illustrate the future promise of cell and gene therapy in the treatment of IEM.
This paper references
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer.
Steven E. Raper (2003)
Persistent expression of human clotting factor IX from mouse liver after intravenous injection of adeno-associated virus vectors.
Dwight D. Koeberl (1997)
The advent of AAV9 expands applications for brain and spinal cord gene delivery
Robert D. Dayton (2012)
Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response
Catherine Scott Manno (2006)
Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectors
Richard O. Snyder (1997)
Gene therapy for leukodystrophies.
Alessandra Biffi (2011)
Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer.
B Fang (1994)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Jerry Vockley (2014)
Cryopreserved liver cell transplantation controls ornithine transcarbamylase deficient patient while awaiting liver transplantation.
Xavier Stéphenne (2005)
Safety and efficacy of gene transfer for Leber's congenital amaurosis.
Albert M. Maguire (2008)
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
Rani H. Singh (2014)
Efficacy of gene therapy for X-linked severe combined immunodeficiency.
Salima Hacein-Bey-Abina (2010)
Executive functioning in children and adolescents with phenylketonuria.
Kelly Vanzutphen (2007)
AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness
Jean Bennett (2012)
Hepatocyte Transplantation for Glycogen Storage Disease Type Ib
Kwang Woong Lee (2007)
Hepatocyte transplantation as a treatment for glycogen storage disease type 1a
Maurizio Muraca (2002)
In vivo genome editing using Staphylococcus aureus Cas9
Fei Ann Ran (2015)
Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up.
Etienne M. Sokal (2003)
New recombinant serotypes of AAV vectors.
Guangping Gao (2005)
Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector
Mark A. Kay (2000)
Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).
Kelly J Hamman (2011)
Executive function in early-treated phenylketonuria: profile and underlying mechanisms.
Shawn E. Christ (2010)
Development and Applications of CRISPR-Cas9 for Genome Engineering
Patrick D. Hsu (2014)
Gene and Cell Therapy: Therapeutic Mechanisms and Strategies, Second Edition, Revised and Expanded
Nancy Templeton (2003)
Adenovirus-Mediated Somatic Genome Editing of Pten by CRISPR/Cas9 in Mouse Liver in Spite of Cas9-Specific Immune Responses.
Dan Wang (2015)
Isolated Hepatocyte Transplantation for Crigler-Najjar Syndrome Type 1
Giovanni Ambrosino (2005)
Adeno-associated viral vector-mediated gene transfer of human blood coagulation factor IX into mouse liver.
Hiroyuki Nakai (1998)
Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I
Markus Grompe (1995)
Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemia.
A A Khan (2008)
T Lymphocyte-Directed Gene Therapy for ADA− SCID: Initial Trial Results After 4 Years
R. Michael Blaese (1995)
Monitoring of Intraportal Liver Cell Application in Children
J. Meyburg (2010)
Characterization of genome integrity for oversized recombinant AAV vector.
Biao Dong (2010)
Birth of a new therapeutic platform: 47 years of adeno-associated virus biology from virus discovery to licensed gene therapy.
Terence R. Flotte (2013)
Hepatocyte transplantation followed by auxiliary liver transplantation--a novel treatment for ornithine transcarbamylase deficiency.
Juliana Puppi (2008)
Blood phenylalanine control in adolescents with phenylketonuria
John H. Walter (2004)
Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects.
J. Meyburg (2010)
Frequency and Spectrum of Genomic Integration of Recombinant Adeno-Associated Virus Serotype 8 Vector in Neonatal Mouse Liver
Katsuya Inagaki (2008)
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria
Cary O. Harding (2006)
Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria.
Kelly J Hamman (2005)
Permanent access to the portal system for cellular transplantation using an implantable port device.
Ahmed A Darwish (2004)
A human parvovirus, adeno-associated virus, as a eucaryotic vector: transient expression and encapsidation of the procaryotic gene for chloramphenicol acetyltransferase.
Jon Duri Tratschin (1984)
Metabolic engineering as therapy for inborn errors of metabolism – development of mice with phenylalanine hydroxylase expression in muscle
C. Harding (1998)
Liver and liver cell transplantation for glycogen storage disease type IA.
Maurizio Muraca (2005)
Computationally designed liver-specific transcriptional modules and hyperactive factor IX improve hepatic gene therapy.
Nisha Velappan Nair (2014)
Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
Alessandra Biffi (2013)
Multiplex Genome Engineering Using CRISPR/Cas Systems
Lê Chí Công (2013)
Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome.
Tanya Newnham (2008)
Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer
Z Ding (2006)
Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system.
Zhaobing Ding (2008)
Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors.
David Moscioni (2006)
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation.
Ira J. Fox (1998)
Hepatic gene transfer in neonatal mice by adeno-associated virus serotype 8 vector.
Li Wang (2012)
Sustained correction of disease in naive and AAV2-pretreated hemophilia B dogs: AAV2/8-mediated, liver-directed gene therapy.
Li Wang (2005)
Use of adeno-associated virus as a mammalian DNA cloning vector: transduction of neomycin resistance into mammalian tissue culture cells.
Paul L. Hermonat (1984)
Engineering the Caenorhabditis elegans Genome Using Cas9-Triggered Homologous Recombination
Daniel J. Dickinson (2013)
Total correction of hemophilia A mice with canine FVIII using an AAV 8 serotype.
Rita Sarkar (2004)
Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice
Shinichi Mochizuki (2004)
Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency.
Xavier Stéphenne (2006)
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy
Elsa Shapiro (2000)
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
Dwight D. Koeberl (2006)
Sexually dimorphic patterns of episomal rAAV genome persistence in the adult mouse liver and correlation with hepatocellular proliferation.
Allison P. Dane (2009)
Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver.
Hiu Man Viecelli (2014)
Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer
A Ghosh (2006)
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B.
Amit C. Nathwani (2011)
Cell-mediated rejection results in allograft loss after liver cell transplantation.
Katrina J Allen (2008)
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency.
Salima Hacein-Bey-Abina (2003)
Gene Therapy for Aromatic l-Amino Acid Decarboxylase Deficiency
Wuh-Liang Hwu (2012)
Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.
Baodong Sun (2005)
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder.
Simon P Horslen (2003)
Immune responses to AAV in clinical trials.
Federico Mingozzi (2007)
Hepatocyte transplantation for liver-based metabolic disorders
Anil Dhawan (2006)
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
Nathalie Cartier (2009)
Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver.
Amit Chunilal Nathwani (2006)
AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B.
Catherine Scott Manno (2003)
Principles of hepatocyte repopulation.
Ezio Laconi (2002)
Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy.
Nathalie Cartier (2008)
Hepatocyte transplantation as a bridge to orthotopic liver transplantation in terminal liver failure.
Stephen C Strom (1997)
A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia
Mariann Grossman (1995)
Long-term safety and efficacy of factor IX gene therapy in hemophilia B.
Amit C. Nathwani (2014)
Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.
Nuria Carrillo-Carrasco (2010)
Mammalian gene targeting with designed zinc finger nucleases.
Matthew H. Porteus (2006)
Safety and tolerability of putaminal AADC gene therapy for Parkinson disease
C. W. Christine (2009)
The history and use of human hepatocytes for the treatment of liver diseases: the first 100 patients.
Marc C. Hansel (2014)
Efficient design and assembly of custom TALEN and other TAL effector-based constructs for DNA targeting
Tomáš Čermák (2011)
Recruitment of Single-Stranded Recombinant Adeno-Associated Virus Vector Genomes and Intermolecular Recombination Are Responsible for Stable Transduction of Liver In Vivo
Hiroyuki Nakai (2000)
One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects.
J. Meyburg (2009)
A Phase I Study of Aromatic L-Amino Acid Decarboxylase Gene Therapy for Parkinson's Disease.
Shin-ichi Muramatsu (2010)
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2.
Francesco Testa (2013)
Gene expression from adeno-associated virus vectors in airway epithelial cells.
Terence R. Flotte (1992)
RNA-Guided Human Genome Engineering via Cas9
Prashant R. Mali (2013)
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.
Salima Hacein-Bey-Abina (2002)
Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I
Ken Overturf (1996)
Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype
Hao Yin (2014)
Single Liver Lobe Repopulation with Wildtype Hepatocytes Using Regional Hepatic Irradiation Cures Jaundice in Gunn Rats
Hongchao Zhou (2012)
This paper is referenced by
Attempts to Synthesize Fumarylacetoacetate Using the Filamentous Ascomycete, Aspergillus nidulans
C. F. Loughran (2018)
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria
Juliette H Hughes (2019)