The Pediatric Muscular Dystrophy Laboratory, in the James G. Cannon Research Center at Carolinas Medical Center, focuses on muscular dystrophy research, from congenital muscular dystrophy and limb-girdle muscular dystrophy (dystroglycanopathies), to Duchenne and Becker muscular dystrophy (dystrophinopathies), to unknown muscular dystrophies.
With funding from National Institutes of Health, the Pediatric Muscular Dystrophy Laboratory serves as Core C: Molecular Diagnostics and Cell Banking Core for the “Center of Research Translation: Systemic Exon-skipping in Muscular Dystrophy,” a project with Children’s National Medical Center and the University of Pittsburgh. The lab processes blood and tissues from patients with Duchenne and Becker muscular dystrophies to better understand exon-skipping therapy in muscular dystrophy.
With funding from the Muscular Dystrophy Association, the lab is identifying new genetic etiology of muscular dystrophy, using specific gene and whole-exome sequencing.
The clinical research conducted at the laboratory is connected to the Muscular Dystrophy Association clinic and our own McColl-Lockwood Laboratory for Muscular Dystrophy Research. Also, Carolinas Medical Center is one of the research sites of the Cooperative International Neuromuscular Research Group.
General/Specific Research Interests of Pediatric Muscular Dystrophy Clinical Research
- Protocol H6D-MC-LVJJ: A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy
- Site PI: 2013-present
- Phase III treatment trial
- Funding: Eli-Lilly
- CHAR0312: Duchenne Muscular Dystrophy Tissue Bank for Exon-skipping
- Project and Site PI: 2013-present
- Investigator initiated, pre-clinical
- Funding: National Institutes of Health/NIAMS
- PITT0112: Becker Muscular Dystrophy: A natural history study to predict efficacy of exon skipping
- Site PI: Carolinas Medical Center 2013-present
- Investigator initiated, observational
- Funding: National Institutes of Health/NIAMS
- Genetic Identification of Limb-girdle muscular dystrophy
- PI 2013-present
- Investigator initiated
- Funding: Muscular Dystrophy Association
- UCD0305: Longitudinal study of the relationship between impairment, activity limitation, participation and quality of life in persons with confirmed Duchenne muscular dystrophy
- Site PI: Carolinas Medical Center 2013-present
- Investigator initiated, observational
- Funding: National Institutes of Health/NIAMS and Parent Project Muscular Dystrophy (PPMD)
- ACH0311: Multicenter collaborative study on the clinical features, expression profiling, and quality of life of infantile onset fascioscapulohumeral dystrophy
- Site PI: Carolinas Medical Center 2013-present
- Investigator initiated, observational
- Funding: FSHD Foundation
- Open-label, multiple-dose, efficacy, safety and tolerability study of Eteplirsen in subjects with Duchenne muscular dystrophy
- Site PI: Carolinas Medical Center 2012-present
- Clinical outcome study for dysferlinopathies
- Site PI: Carolinas Medical Center 2012-present
- Observational
- Funding: Jain Foundation
- DELOS: A Phase III Double-blind, randomized, placebo-controlled study of the efficacy, safety, and tolerability of Idebenone in patients with Duchenne muscular dystrophy
- Site PI; Carolinas Medical Center 2012-present
- Phase III treatment trial
- Funding: Santhera
- Longitudinal Down Syndrome Study
- Site PI: Carolinas Medical Center 2012-present
- Investigator initiated, observational, registry
- Neuromuscular Data Registry
- PI 2011-present
- Investigator Initiated, Registry
- Funding: National Philoptochos Children’s Medical Fund
- Longitudinal Assessment of Limb-Girdle muscular dystrophy
- PI 2011-present
- Investigator initiated, observational
- Funding: Muscular Dystrophy Association
- Lysosomal Storage Disease Registry
- Site PI 2010-present
- Registry
- Funding: Genzyme
- MPSVI Clinical Surveillance Program
- Site PI 2010-present
- Registry
- Funding: BioMarin
- Assessment of In-vitro exon-skipping therapy in patients with Duchenne Muscular Dystrophy
- PI 2010-present
- Investigator initiated, pre-clinical
- Funding: National Institutes of Health
- PITT0908: Clinical Trial of CoEnzyme Q10 and Lisinopril in Muscular Dystrophies
- Site PI: Carolinas Medical Center 2010-present
- Investigator Initiated, randomized therapeutic
- Funding: Department of Defense
Carolinas Medical Center is one of the research sites of the Cooperative International Neuromuscular Research Group (CINRG).
The Team
- Susan Sparks, MD, PhD, PI (e-mail; Phone:704-381-6810; Fax: 704-381-6811)
- Qi-Long Lu, MD, PhD, Co-I
- Elena Bravver, MD, Co-I
- Amy Harper, MD, Co-I
- Kathryn Gallaher, Lab technician
- Jacqueline Sykes, RN, BSN, Clinical Research Nurse
- Ann Lucas, MS, CGC, Genetic Counselor, Clinical Research Coordinator
- Jordan Lyerly, MS, Research Analyst
- Jenifer Lavigne, Clinical Research Coordinator
- Scott Holsten, MPT, Clinical Research Evaluator
- Mohammed Sanjak, PhD, MPT, Clinical Research Evaluator