Pediatric Muscular Dystrophy Laboratory

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