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
2022
Longitudinal changes in cardiac function in Duchenne muscular dystrophy population as measured by magnetic resonance imaging.
BMC cardiovascular disorders
•2022
Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome.
Pediatric cardiology
•2022
Secondary hemophagocytic lymphohistiocytosis following Zolgensma therapy: An evolving story on the innate response to systemic gene therapy
Molecular Therapy
2021
Case Studies in Neuroscience: Neuropathology and diaphragm dysfunction in ventilatory failure from late-onset Pompe disease.
Journal of neurophysiology
•2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Human mutation
•