Charlotte J. Sumner
Experienced in Collagen VI-Related Myopathy

Dr. Charlotte J. Sumner

Neuromusculoskeletal Medicine
Johns Hopkins Medicine
Johns Hopkins Outpatient Center
Baltimore, MD 
Clinical Trials:Currently Recruiting for 2 Trials

Experienced in Collagen VI-Related Myopathy
Johns Hopkins Medicine
Johns Hopkins Outpatient Center
Baltimore, MD 
OverviewInsuranceLocationsClinical ResearchSimilar Doctors

Overview

Dr. Charlotte Sumner is a Professor of Neurology and Neuroscience at Johns Hopkins University School of Medicine. Dr. Sumner cares for patients with genetically-mediated neuromuscular diseases. Her practice is notable for a focus on individuals with inherited neuromuscular disorders of peripheral nerves and motor neurons, including spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease. She co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy (SMA), and the Charcot-Marie-Tooth (CMT) clinics, which deliver multidisciplinary clinical care, engage in international natural history studies, and provide cutting edge therapeutics. Dr. Sumner’s research focuses on developing treatments for degenerative disorders of motor neurons and peripheral nerves. Her laboratory uses human tissues and induced pluripotent cell lines, mouse models and cultured cells to characterize disease mechanisms and develop treatments. Dr. Charlotte Sumner received her medical degree from the University of Pennsylvania School of Medicine following undergraduate studies at Princeton University. She completed internal medicine internship and neurology residency at the University of California San Francisco, after which she returned to the east coast for a neuromuscular fellowship at Johns Hopkins and a neurogenetics fellowship in the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke. She joined the neurology faculty at Johns Hopkins in 2006.

Dr. Sumner is rated as an Experienced provider by MediFind in the treatment of Collagen VI-Related Myopathy. Her top areas of expertise are Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth Disease, Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 2, and Gastrostomy.

Her clinical research consists of co-authoring 93 peer reviewed articles and participating in 2 clinical trials. MediFind looks at clinical research from the past 15 years. In particular, she has co-authored 1 article in the study of Collagen VI-Related Myopathy.

Residency
UCSF Medical Center, Neurology, 2000
Specialties
Neuromusculoskeletal Medicine
Licenses
Psychiatry & Neurology in MD
Board Certifications
American Board Of Psychiatry And Neurology
Fellowships
Johns Hopkins University School of Medicine, Neuromuscular Medicine, 2001
Hospital Affiliations
The Johns Hopkins Hospital
Johns Hopkins Bayview Medical Center
Languages Spoken
English
Gender
Female

Insurance

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Accepted insurance plans:

Aetna
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Geisinger
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Humana
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Johns Hopkins Healthcare
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Locations

Johns Hopkins Outpatient Center
Floor 5, Baltimore, MD 21287
Call: 410-955-9441

Clinical Research

Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Providers who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.


2 Clinical Trials

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Enrollment Status: Recruiting
Publish Date: October 07, 2025
Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
Enrollment Status: Recruiting
Publish Date: October 07, 2025

93 Total Publications

Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients.
Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients.
Journal: Research square
Published: December 11, 2025
View All 93 Publications
Similar Doctors
Payam Mohassel
Advanced in Collagen VI-Related Myopathy
Dr. Payam Mohassel
Neuromusculoskeletal Medicine
Advanced in Collagen VI-Related Myopathy
Dr. Payam Mohassel
Neuromusculoskeletal Medicine

Johns Hopkins Outpatient Center

601 North Caroline Street, Floor 5, Floor 5, 
Baltimore, MD 
 (1.2 miles away)
410-955-9441
Experience:
17+ years
Languages Spoken:
English, Farsi
See accepted insurances

Neurologist Payam Mohassel specializes in myopathies, muscular dystrophies, and other hereditary neuromuscular disorders and is the co-director of the Johns Hopkins Myositis Center. Dr. Mohassel obtained his medical degree from the Johns Hopkins University School of Medicine, where he remained for a medical internship, residency training in neurology, and clinical fellowship training in neuromuscular medicine. He then joined the National Institute of Neurological Disorders and Stroke Neurogenetics branch as a clinical research fellow. Dr. Mohassel’s research focuses on translational studies on neuromuscular disorders, and it spans gene discovery efforts, mechanistic studies to identify therapeutic targets, and early phase interventional clinical trials. Dr. Mohassel is rated as an Advanced provider by MediFind in the treatment of Collagen VI-Related Myopathy. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Hereditary Sensory Neuropathy Type 1 (HSN1), and Hereditary Sensory and Autonomic Neuropathy Type 2.

VIEW MORE COLLAGEN VI-RELATED MYOPATHY DOCTORS

Areas of Expertise

MediFind evaluates expertise by pulling from factors such as number of articles a doctor has published in medical journals, participation in clinical trials, speaking at industry conferences, prescribing and referral patterns, and strength of connections with other experts in their field.

Learn more about MediFind’s expert tiers

Find Dr. Sumner's expertise for a condition
ConditionClose
  • Elite
  • Charcot-Marie-Tooth Disease
    Dr. Sumner is
    Elite
    . Learn about Charcot-Marie-Tooth Disease.
    See more Charcot-Marie-Tooth Disease experts
  • Primary Lateral Sclerosis
    Dr. Sumner is
    Elite
    . Learn about Primary Lateral Sclerosis.
    See more Primary Lateral Sclerosis experts
  • Spinal Muscular Atrophy (SMA)
    Dr. Sumner is
    Elite
    . Learn about Spinal Muscular Atrophy (SMA).
    See more Spinal Muscular Atrophy (SMA) experts
    • Advanced
    • Amyotonia Congenita
      Dr. Sumner is
      Advanced
      . Learn about Amyotonia Congenita.
      See more Amyotonia Congenita experts
    • Andermann Syndrome
      Dr. Sumner is
      Advanced
      . Learn about Andermann Syndrome.
      See more Andermann Syndrome experts
    • Dystrophinopathy
      Dr. Sumner is
      Advanced
      . Learn about Dystrophinopathy.
      See more Dystrophinopathy experts
    • Hereditary Sensory Neuropathy Type 1 (HSN1)
      Dr. Sumner is
      Advanced
      . Learn about Hereditary Sensory Neuropathy Type 1 (HSN1).
      See more Hereditary Sensory Neuropathy Type 1 (HSN1) experts
    • Limb-Girdle Muscular Dystrophy
      Dr. Sumner is
      Advanced
      . Learn about Limb-Girdle Muscular Dystrophy.
      See more Limb-Girdle Muscular Dystrophy experts
    • Limb-Girdle Muscular Dystrophy Type 1A
      Dr. Sumner is
      Advanced
      . Learn about Limb-Girdle Muscular Dystrophy Type 1A.
      See more Limb-Girdle Muscular Dystrophy Type 1A experts
    View All 20 Advanced Conditions
    • Experienced
    • Adult Polyglucosan Body Disease
      Dr. Sumner is
      Experienced
      . Learn about Adult Polyglucosan Body Disease.
      See more Adult Polyglucosan Body Disease experts
    • Botulism
      Dr. Sumner is
      Experienced
      . Learn about Botulism.
      See more Botulism experts
    • Cerebrotendinous Xanthomatosis
      Dr. Sumner is
      Experienced
      . Learn about Cerebrotendinous Xanthomatosis.
      See more Cerebrotendinous Xanthomatosis experts
    • Collagen VI-Related Myopathy
      Dr. Sumner is
      Experienced
      . Learn about Collagen VI-Related Myopathy.
      See more Collagen VI-Related Myopathy experts
    • Cramp-Fasciculation Syndrome
      Dr. Sumner is
      Experienced
      . Learn about Cramp-Fasciculation Syndrome.
      See more Cramp-Fasciculation Syndrome experts
    • Delta-Sarcoglycanopathy
      Dr. Sumner is
      Experienced
      . Learn about Delta-Sarcoglycanopathy.
      See more Delta-Sarcoglycanopathy experts
    View All 26 Experienced Conditions
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