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 , 91 publications
- Genetic Vectors , 84 publications
- Glycogen Storage Disease Type II , 65 publications
- Muscle, Skeletal , 43 publications
Research activity
Active clinical trials
- Investigator
- Barry J Byrne
- Status
- Accepting Candidates
My publications
Filter publications
380 publications
2026
Summary of Research: Risdiplam Treatment Following Onasemnogene Abeparvovec in Individuals with Spinal Muscular Atrophy: A Multicenter Case Series.
Advances in therapy
PubMed • Publisher's site2026
AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.
The New England journal of medicine
PubMed • Publisher's site2026
Gait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe disease.
Journal of neuroengineering and rehabilitation
PubMed • Publisher's site2026
Learnings from Patient Mortality after Delandistrogene Moxeparvovec Administration: A Report of Two Cases and Expert Committee Considerations for Future Mitigation and Management.
Human gene therapy
PubMed • Publisher's site2026
Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI.
Translational research : the journal of laboratory and clinical medicine
PubMed • Publisher's site