This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.
- Investigator
- Carla Zingariello
- Status
- Accepting Candidates
- Ages
- 12 Years - 50 Years
- Sexes
- All
Research at a glance
Top areas of exploration
- Ataxia , 2 publications
- Dystrophin , 2 publications
- Muscular Dystrophy, Duchenne , 2 publications
- Intracellular Signaling Peptides and Proteins , 1 publications
Research activity
Focus
Dr. Zingariello is actively involved in research in her field. She is currently the Principal Investigator on a muscular dystrophy grant from CDC to University of Florida. She also serves as PI for a Limb Girdle muscular dystrophy clinical trial. She has a Children鈥檚 Miracle Network grant to investigate factors contributing to delays in diagnosis of juvenile myasthenia gravis and spinal muscular atrophy. She additionally serves as a sub-Investigator on multiple gene therapy clinical trials for Duchenne Muscular Dystrophy.
Active clinical trials
This study will evaluate the safety and efficacy of long-term administration of BBP-418 in patients with LGMD2I/R9. The study will include patients ages 12 to 60, consistent with the existing preclinical toxicology profile. This will encompass the鈥�
- Investigator
- Carla Zingariello
- Status
- Accepting Candidates
- Ages
- 12 Years - 60 Years
- Sexes
- All
My publications
Filter publications
12 publications
2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Annals of clinical and translational neurology
鈥�2022
Inherited Ataxias in Children.
Pediatric neurology
鈥�2021
Vitamins are Indeed Vital Amines: A Discussion of 3 Deficiencies With Neurologic Manifestations.
Child neurology open
鈥�2020
Rituximab as Adjunct Maintenance Therapy for Refractory Juvenile Myasthenia Gravis.
Pediatric neurology
鈥�2019
A multidisciplinary approach to dosing nusinersen for spinal muscular atrophy.
Neurology. Clinical practice
鈥�