Neuromuscular Disorders Research in the Department of Neurology

The division of Neuromuscular Disorders actively engages in clinical research addressing such conditions as Duchenne Muscular Dystrophy, ALS, spinal muscular atrophy, pediatric neuromuscular disorders, myasthenia gravis, CIDP, diabetic neuropathy, and amyloid neuropathy. Faculty members regularly participate in multisite clinical trials. As a certified Center of Excellence in muscular dystrophy, ALS, and Guillain-Barré Syndrome/CIDP, Vanderbilt is able to offer patients holistic care, which includes novel, potentially life-changing therapeutics emerging from research activities. 

Vanderbilt is a member of the Northeast ALS Consortium (NEALS) whose mission is to advance clinical research and treatments for people with Amyotrophic Lateral Sclerosis (ALS). Through NEALS, Vanderbilt participates in multicenter ALS treatment trials and has access to the NEALS database for research projects. 

Research opportunities are available for neurology residents and fellows. 

Faculty members in the Neuromuscular Disorders Division are leading research in the following areas:  

Peripheral neuropathy and motor neuron disorders

Dr. Peter Donofrio

Dr. Donofrio’s major research interests are in the fields of peripheral neuropathy and in motor neuron disorders. He has authored articles on the treatment of neuropathic pain in patients with diabetic neuropathy and the treatment of chronic inflammatory neuropathies, particularly with plasma exchange and intravenous immunoglobulin. He regularly performs clinical trials of medications that have shown potential in the laboratory to improve disease course and improve patient function. He has participated in many clinical trials of potential agents for the treatment of amyotrophic lateral sclerosis (ALS), often called Lou Gehrig’s Disease in the United States.

Dr. Donofrio is also the Director of the EMG Lab at VUMC where conventional and less common electrodiagnostic testing is performed. The highly sophisticated laboratory performs repetitive nerve stimulation testing, the needle examination, single fiber EMG, autonomic testing, and Q-SART testing.

Diabetic nerve damage and autonomic dysfunction

Dr. Amanda Peltier

Dr. Peltier is interested in nerve damage associated with diabetes and prediabetes, and has been a co-investigator in a NIH-funded multicenter study on Impaired Glucose Tolerance Associated Neuropathy. Her current research focuses on the etiology of autonomic dysfunction in sleep apnea patients. Her research goal is to identify biomarkers or tests useful in diagnosing neuropathy at earlier stages where it may be treatable. 

Dr. Peltier also has an ongoing collaboration with the Vanderbilt Autonomic Disorders Center investigating peripheral autonomic function in disorders such as postural tachycardia syndrome, autoimmune autonomic neuropathy, and pure autonomic failure.

Pediatric neuromuscular disorders

Dr. Bryan Burnette

Dr. Burnette is a co-investigator on numerous multi-center clinical trials of novel small molecule and gene-based therapies for Duchenne Muscular Dystrophy. He is also a collaborative investigator in multiple studies of markers of cardiac and skeletal muscle disease progression, and director of the CureSMA-sponsored Vanderbilt SMA Care Center, focused on developing standards of care for spinal muscular atrophy in the era of new and developing therapeutics. 

More on pediatric research

ALS Amyotrophic Lateral Sclerosis

Dr. Veronique Belzil

Dr. Belzil leads a laboratory dedicated to identifying disease-specific variants in neurodegenerative diseases using human biospecimens.  Her team meticulously investigates genetic, epigenetic, and transcriptional changes to understand the complex etiology, diverse clinical manifestations, and environmental interactions of these diseases.  By uncovering underlying biological mechanisms and identifying static and dynamic biomarkers, they aim to develop clinically relevant biomarker panels for early diagnosis, prognostication, patient stratification, and target engagement in clinical trials.  The lab also focuses on disease modeling and novel therapeutic interventions using human-derived cell lines.  As the director of the new Vanderbilt ALS Research Center, Dr. Belzil emphasizes multidisciplinary collaborations to translate scientific discoveries from bench to bedside, ultimately advancing the field of neurodegeneration and improving patient outcomes.