Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model

GM1 gangliosidosis is a fatal neurodegenerative disease that affects individuals of all ages. Favorable outcomes using adeno-associated viral (AAV) gene therapy in GM1 mice and cats have prompted consideration of human clinical trials, yet there remains a paucity of objective biomarkers to track dis...

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Published inMolecular therapy Vol. 25; no. 4; pp. 892 - 903
Main Authors Gray-Edwards, Heather L., Regier, Debra S., Shirley, Jamie L., Randle, Ashley N., Salibi, Nouha, Thomas, Sarah E., Latour, Yvonne L., Johnston, Jean, Golas, Gretchen, Maguire, Annie S., Taylor, Amanda R., Sorjonen, Donald C., McCurdy, Victoria J., Christopherson, Peter W., Bradbury, Allison M., Beyers, Ronald J., Johnson, Aime K., Brunson, Brandon L., Cox, Nancy R., Baker, Henry J., Denney, Thomas S., Sena-Esteves, Miguel, Tifft, Cynthia J., Martin, Douglas R.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 05.04.2017
Elsevier Limited
American Society of Gene & Cell Therapy
Subjects
AAV gene therapy
Age
Animals
Biomarkers
Biomarkers - blood
Biomarkers - cerebrospinal fluid
Biomarkers - urine
Brain architecture
Cats
Cerebrospinal fluid
Clinical trials
Demyelination
Dependovirus - classification
Dependovirus - genetics
Disease
Disease Models, Animal
EEG
Electroencephalography
Epilepsy
Gangliosidosis
Gangliosidosis, GM1 - genetics
Gangliosidosis, GM1 - metabolism
Gangliosidosis, GM1 - mortality
Gangliosidosis, GM1 - therapy
Gene therapy
Genetic Therapy - methods
Genetic Vectors - administration & dosage
Genetic Vectors - genetics
Humans
Hypocalcemia - metabolism
lysosomal storage disorders
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Metabolites
neurodegeneration
Neurodegenerative diseases
Original
Patients
Preservation
Rhythms
Software
Studies
Treatment Outcome
Urine
neurodegeneration
AAV gene therapy
gangliosidosis
lysosomal storage disorders
Online AccessGet full text

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Abstract GM1 gangliosidosis is a fatal neurodegenerative disease that affects individuals of all ages. Favorable outcomes using adeno-associated viral (AAV) gene therapy in GM1 mice and cats have prompted consideration of human clinical trials, yet there remains a paucity of objective biomarkers to track disease status. We developed a panel of biomarkers using blood, urine, cerebrospinal fluid (CSF), electrodiagnostics, 7 T MRI, and magnetic resonance spectroscopy in GM1 cats—either untreated or AAV treated for more than 5 years—and compared them to markers in human GM1 patients where possible. Significant alterations were noted in CSF and blood of GM1 humans and cats, with partial or full normalization after gene therapy in cats. Gene therapy improved the rhythmic slowing of electroencephalograms (EEGs) in GM1 cats, a phenomenon present also in GM1 patients, but nonetheless the epileptiform activity persisted. After gene therapy, MR-based analyses revealed remarkable preservation of brain architecture and correction of brain metabolites associated with microgliosis, neuroaxonal loss, and demyelination. Therapeutic benefit of AAV gene therapy in GM1 cats, many of which maintain near-normal function >5 years post-treatment, supports the strong consideration of human clinical trials, for which the biomarkers described herein will be essential for outcome assessment. GM1 gangliosidosis is a fatal, untreatable neurodegenerative disease of children and adults. Gray-Edwards and colleagues demonstrate >5-year survival in AAV-treated GM1 cats and describe novel minimally invasive biomarkers for use in clinical trials. Analyses of blood, cerebrospinal fluid, electroencephalography, MRI, and MRS are included from GM1 cats and human patients.
AbstractList GM1 gangliosidosis is a fatal neurodegenerative disease that affects individuals of all ages. Favorable outcomes using adeno-associated viral (AAV) gene therapy in GM1 mice and cats have prompted consideration of human clinical trials, yet there remains a paucity of objective biomarkers to track disease status. We developed a panel of biomarkers using blood, urine, cerebrospinal fluid (CSF), electrodiagnostics, 7 T MRI, and magnetic resonance spectroscopy in GM1 cats-either untreated or AAV treated for more than 5 years-and compared them to markers in human GM1 patients where possible. Significant alterations were noted in CSF and blood of GM1 humans and cats, with partial or full normalization after gene therapy in cats. Gene therapy improved the rhythmic slowing of electroencephalograms (EEGs) in GM1 cats, a phenomenon present also in GM1 patients, but nonetheless the epileptiform activity persisted. After gene therapy, MR-based analyses revealed remarkable preservation of brain architecture and correction of brain metabolites associated with microgliosis, neuroaxonal loss, and demyelination. Therapeutic benefit of AAV gene therapy in GM1 cats, many of which maintain near-normal function >5 years post-treatment, supports the strong consideration of human clinical trials, for which the biomarkers described herein will be essential for outcome assessment.
GM1 gangliosidosis is a fatal neurodegenerative disease that affects individuals of all ages. Favorable outcomes using adeno-associated viral (AAV) gene therapy in GM1 mice and cats have prompted consideration of human clinical trials, yet there remains a paucity of objective biomarkers to track disease status. We developed a panel of biomarkers using blood, urine, cerebrospinal fluid (CSF), electrodiagnostics, 7 T MRI, and magnetic resonance spectroscopy in GM1 cats—either untreated or AAV treated for more than 5 years—and compared them to markers in human GM1 patients where possible. Significant alterations were noted in CSF and blood of GM1 humans and cats, with partial or full normalization after gene therapy in cats. Gene therapy improved the rhythmic slowing of electroencephalograms (EEGs) in GM1 cats, a phenomenon present also in GM1 patients, but nonetheless the epileptiform activity persisted. After gene therapy, MR-based analyses revealed remarkable preservation of brain architecture and correction of brain metabolites associated with microgliosis, neuroaxonal loss, and demyelination. Therapeutic benefit of AAV gene therapy in GM1 cats, many of which maintain near-normal function >5 years post-treatment, supports the strong consideration of human clinical trials, for which the biomarkers described herein will be essential for outcome assessment.
GM1 gangliosidosis is a fatal neurodegenerative disease that affects individuals of all ages. Favorable outcomes using adeno-associated viral (AAV) gene therapy in GM1 mice and cats have prompted consideration of human clinical trials, yet there remains a paucity of objective biomarkers to track disease status. We developed a panel of biomarkers using blood, urine, cerebrospinal fluid (CSF), electrodiagnostics, 7 T MRI, and magnetic resonance spectroscopy in GM1 cats—either untreated or AAV treated for more than 5 years—and compared them to markers in human GM1 patients where possible. Significant alterations were noted in CSF and blood of GM1 humans and cats, with partial or full normalization after gene therapy in cats. Gene therapy improved the rhythmic slowing of electroencephalograms (EEGs) in GM1 cats, a phenomenon present also in GM1 patients, but nonetheless the epileptiform activity persisted. After gene therapy, MR-based analyses revealed remarkable preservation of brain architecture and correction of brain metabolites associated with microgliosis, neuroaxonal loss, and demyelination. Therapeutic benefit of AAV gene therapy in GM1 cats, many of which maintain near-normal function >5 years post-treatment, supports the strong consideration of human clinical trials, for which the biomarkers described herein will be essential for outcome assessment. GM1 gangliosidosis is a fatal, untreatable neurodegenerative disease of children and adults. Gray-Edwards and colleagues demonstrate >5-year survival in AAV-treated GM1 cats and describe novel minimally invasive biomarkers for use in clinical trials. Analyses of blood, cerebrospinal fluid, electroencephalography, MRI, and MRS are included from GM1 cats and human patients.
Author Johnston, Jean
Cox, Nancy R.
Shirley, Jamie L.
Sorjonen, Donald C.
Salibi, Nouha
Beyers, Ronald J.
Maguire, Annie S.
Thomas, Sarah E.
Brunson, Brandon L.
McCurdy, Victoria J.
Baker, Henry J.
Randle, Ashley N.
Latour, Yvonne L.
Gray-Edwards, Heather L.
Regier, Debra S.
Sena-Esteves, Miguel
Martin, Douglas R.
Tifft, Cynthia J.
Johnson, Aime K.
Golas, Gretchen
Christopherson, Peter W.
Denney, Thomas S.
Taylor, Amanda R.
Bradbury, Allison M.
AuthorAffiliation 1 Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA
2 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
5 Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA
3 MR R&D, Siemens Healthcare, Malvern, PA 19355, USA
7 Department of Electrical and Computer Engineering, Auburn University, Auburn, AL 36849, USA
8 Department of Neurology and Gene Therapy Center, University of Massachusetts Medical School, Worcester, MA 01655, USA
4 Department of Clinical Sciences, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA
6 Department of Pathobiology, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/28236574$$D View this record in MEDLINE/PubMed
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ContentType Journal Article
Copyright 2017 The American Society of Gene and Cell Therapy
Copyright © 2017 The American Society of Gene and Cell Therapy. All rights reserved.
2017. The American Society of Gene and Cell Therapy
2017 The American Society of Gene and Cell Therapy. 2017 The American Society of Gene and Cell Therapy
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Issue 4
Keywords neurodegeneration
AAV gene therapy
gangliosidosis
lysosomal storage disorders
Language English
License This is an open access article under the CC BY-NC-ND license.
Copyright © 2017 The American Society of Gene and Cell Therapy. All rights reserved.
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Present address: Department of Biological Sciences, Mississippi State University, Starkville, MS 39762, USA
Present address: Department of Clinical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA 19104, USA
Present address: Department of Pediatrics, University of Florida, Gainesville, FL 32611, USA
OpenAccessLink https://www.sciencedirect.com/science/article/pii/S1525001617300151
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PublicationDate 2017-04-05
PublicationDateYYYYMMDD 2017-04-05
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PublicationTitle Molecular therapy
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American Society of Gene & Cell Therapy
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SSID ssj0011596
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Snippet GM1 gangliosidosis is a fatal neurodegenerative disease that affects individuals of all ages. Favorable outcomes using adeno-associated viral (AAV) gene...
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elsevier
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SubjectTerms AAV gene therapy
Age
Animals
Biomarkers
Biomarkers - blood
Biomarkers - cerebrospinal fluid
Biomarkers - urine
Brain architecture
Cats
Cerebrospinal fluid
Clinical trials
Demyelination
Dependovirus - classification
Dependovirus - genetics
Disease
Disease Models, Animal
EEG
Electroencephalography
Epilepsy
Gangliosidosis
Gangliosidosis, GM1 - genetics
Gangliosidosis, GM1 - metabolism
Gangliosidosis, GM1 - mortality
Gangliosidosis, GM1 - therapy
Gene therapy
Genetic Therapy - methods
Genetic Vectors - administration & dosage
Genetic Vectors - genetics
Humans
Hypocalcemia - metabolism
lysosomal storage disorders
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Metabolites
neurodegeneration
Neurodegenerative diseases
Original
Patients
Preservation
Rhythms
Software
Studies
Treatment Outcome
Urine
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Title Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model
URI https://dx.doi.org/10.1016/j.ymthe.2017.01.009
https://www.ncbi.nlm.nih.gov/pubmed/28236574
https://www.proquest.com/docview/2198003527
https://search.proquest.com/docview/1872574221
https://pubmed.ncbi.nlm.nih.gov/PMC5383552
Volume 25
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