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
2023
Optogenetic activation of the tongue in spontaneously breathing mice.
Respiratory physiology & neurobiology
•2023
Polysomnography findings in children with spinal muscular atrophy after onasemnogene-abeparvovec.
Sleep medicine
•2022
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment.
Journal of neuromuscular diseases
•2022
Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs.
Frontiers in neurology
•2022
Advanced therapeutic strategy for hereditary neuromuscular diseases.
Molecular therapy : the journal of the American Society of Gene Therapy
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