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Edward Clinton Smith, MD

Associate Professor of Pediatrics
Associate Professor of Neurology
Campus mail: 3000 Erwin Road, Durham, NC 27705
Phone: (919) 668-0477
Email address: edward.smith@duke.edu

My clinical research interests focus on neuromuscular diseases. Neuromuscular diseases are a large group of disorders with various causes sharing one common feature: weakness.

One large group of neuromuscular diseases is caused by abnormalities in the nerves as they exit the brain stem and spinal cord and travel out to their respective muscles. These are called “neuropathies.” Common examples in this group include spinal muscular atrophy (SMA), Charcot-Marie-Tooth disease (CMT) and brachial plexus injuries. I am actively involved in clinical trials for SMA and follow over 40 SMA patients in my clinic.   I also direct a clinic in collaboration with pediatric plastic surgery, orthopedics and occupational therapy to treat children with birth ("obstetric") brachial  plexopathies.

Another large group of neuromuscular diseases, the “myopathies”, are caused by abnormalities in the muscle tissue. Some of the more common examples include Duchenne muscular dystrophy (DMD), myotonic dystrophy and facioscapulohumeral muscular dystrophy (FSHD). I am actively involved in clinical trials in this area and co-direct the Duke Children's Neuromuscular Program which was designated by Parent Project Muscular Dystrophy (PPMD) in June of 2015 as a "Certified Duchenne Care Center".

Less commonly, neuromuscular weakness is due to disorders of neuromuscular transmission. These are caused by abnormalities in the region where the nerve attaches to the muscle. Examples of disorders of neuromuscular transmission include myasthenia gravis and congenital myasthenic syndrome.

In addition to neuromuscular disorders, I have a strong interest in the management of cerebral palsy and spasticity. This can involve treatment with oral medications as well as EMG-guided chemodenervation ("Botox injections") and intrathecal baclofen therapy.

Since February 2015, we have offered multidisciplinary neuromuscular care for our patients in the Duke Children's Neuromuscular Program. This includes coordinated care from a pediatric neuromuscular specialist, pediatric pulmonologist, pediatric cardiologist, physical and occupational therapists, a nutritionist, a social worker and a medical equipment vendor - all in one location (Lenox Baker Children's Hospital). We also work closely with a pediatric endocrinologist, orthopedic surgeon, and a pediatric gastroenterologist, all with neuromuscular expertise. Genetic counseling services are also available.

Education and Training

  • Child Neurology Residency Training, Pediatrics, Duke University, 2004 - 2007
  • Residency Training, Pediatrics, University of Mississippi, 2002 - 2004
  • M.D., University of Mississippi, 2002

Selected Grants and Awards

Publications

Shashi, Vandana, Janelle Geist, Youngha Lee, Yongjin Yoo, Unbeom Shin, Kelly Schoch, Jennifer Sullivan, et al. “Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis..” Hum Mutat 40, no. 8 (August 2019): 1115–26. https://doi.org/10.1002/humu.23760.

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Day, John W., Claudia A. Chiriboga, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Anne M. Connolly, Susan T. Iannaccone, et al. “066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update.” In Journal of Neurology, Neurosurgery & Psychiatry, 90:A22.1-A22. BMJ, 2019. https://doi.org/10.1136/jnnp-2019-anzan.58.

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Mercuri, E., G. Baranello, J. W. Day, C. Bruno, S. Corti, C. A. Chiriboga, T. O. Crawford, et al. “AVXS-101 gene replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal studies clinical update (STR1VE-EU and STR1VE).” In European Journal of Neurology, 26:224–25. WILEY, 2019.

Scholars@Duke

Paquin, Ryan S., Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, et al. “Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients..” Orphanet J Rare Dis 14, no. 1 (May 9, 2019). https://doi.org/10.1186/s13023-019-1069-6.

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Day, John W., Claudia A. Chiriboga, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Anne M. Connolly, Susan T. Iannaccone, et al. “AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update.” In Neurology, Vol. 92. LIPPINCOTT WILLIAMS & WILKINS, 2019.

Scholars@Duke

Helbig, Katherine L., Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, et al. “De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias..” Am J Hum Genet 104, no. 3 (March 7, 2019). https://doi.org/10.1016/j.ajhg.2019.02.015.

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Khan, Tahir N., Kamal Khan, Azita Sadeghpour, Hannah Reynolds, Yezmin Perilla, Marie T. McDonald, William B. Gallentine, et al. “Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies..” Am J Hum Genet 104, no. 1 (January 3, 2019): 94–111. https://doi.org/10.1016/j.ajhg.2018.11.017.

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Shell, R., J. Day, C. Chiriboga, T. O. Crawford, B. T. Darras, R. Finkel, A. M. Connolly, et al. “AVXS-101 Gene Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update.” In American Journal of Respiratory and Critical Care Medicine, Vol. 199. AMER THORACIC SOC, 2019.

Scholars@Duke

Landrum Peay, Holly, Ryan Fischer, Janice P. Tzeng, Sharon E. Hesterlee, Carl Morris, Amy Strong Martin, Colin Rensch, et al. “Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents..” Plos One 14, no. 5 (2019). https://doi.org/10.1371/journal.pone.0213649.

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Shashi, Vandana, Maria M. Magiera, Dennis Klein, Maha Zaki, Kelly Schoch, Sabine Rudnik-Schöneborn, Andrew Norman, et al. “Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration..” Embo J 37, no. 23 (December 3, 2018). https://doi.org/10.15252/embj.2018100540.

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