The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.
- Investigator
- Barry J Byrne
- Status
- Accepting Candidates
- Ages
- 18 Months - 12 Years
- Sexes
- All
Research at a glance
Top areas of exploration
- Genetic Therapy , 86 publications
- Genetic Vectors , 80 publications
- Glycogen Storage Disease Type II , 60 publications
- Muscle, Skeletal , 41 publications
Research activity
Active clinical trials
- Investigator
- Barry J Byrne
- Status
- Accepting Candidates
This is a multicenter, international open-label extension study of ATB200/AT2221 in adult subjects with late-onset Pompe disease (LOPD) who completed Study ATB200-03.
- Investigator
- Barry J Byrne
- Status
- Accepting Candidates
- Ages
- 18 Years - N/A
- Sexes
- All
My publications
Filter publications
368 publications
2019
AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the Hypoglossal Motor System of Pompe Mice.
Molecular therapy. Methods & clinical development
•2019
AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome.
Human gene therapy
•2019
AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome.
Molecular therapy. Methods & clinical development
•2019
Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome.
Journal of inherited metabolic disease
•2019
Cardiac and skeletal muscle effects in the randomized HOPE-Duchenne trial.
Neurology
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