Biography
Professional Background
Dr. Ciafaloni is a Professor of Neurology and Pediatrics who specializes in the diagnosis and treatment of Neuromuscular Diseases in adults and children. She is Co-Director of the MDA Neuromuscular Clinic and Program Director of the ACGME Accredited Neuromuscular Medicine Fellowship Program. She graduated from Medical School at the Universita' Statale di Milano, in Milano, Italy in 1989. She trained at Columbia University in mitochondrial diseases, then at Duke University where she completed her Neurology Residency and Neuromuscular/EMG Fellowships. She has been on the Neurology Faculty at URMC since 2002.
Her current commitments include improving the diagnosis and treatment of adult and pediatric patients with neuromuscular diseases, especially Duchenne Muscular Dystrophy, myasthenia gravis, ALS, limb girdle muscular dystrophies, myotonic dystrophy, FSHD, and spinal muscular atrophy. She has national and international expertise in conducting clinical trials in adult and pediatric neuromuscular diseases including Duchenne Muscular Dystrophy, Myasthenia Gravis, periodic paralyses, nondystrophic myotonias, myotonic dystrophy and FSHD.
She has a clinical research interest in the best treatment of patients with Duchenne Muscular Dystrophy, the course and outcome of pregnancy in women with muscular dystrophies, and sleep disorders in neuromuscular diseases.
She has been involved in clinical care, research, education and advocacy related to neuromuscular diseases for the past 15 years. Her background as Principal Investigator for several national and international multi-center trials includes: Thymectomy in myasthenia gravis, Cell Cept in myasthenia gravis, Dichlorphenamide (DCP) in periodic paralyses, Mexiletine in myotonia congenital, and Ataluren (PTC124) in Duchenne muscular dystrophy. She is Chair of the Clinical Research Committee of the Muscular Dystrophy Surveillance Tracking and Research Network (MDSTARnet), a CDC funded project on Becker/Duchenne muscular dystrophy( 2004-present).
She is currently Site Investigator for the following Clinical Trials:
1. FOR-DMD: Double-blind randomized trial to optimize steroid regimen in Duchenne MD (1 R01 NS061799-01A2)
2. A Phase II Trial of Rituximab in Myasthenia Gravis- neuroNEXT
3. An Open-Label, Multi-Center Study to Evaluate the Safety and Tolerability of Eteplirsen in Patients with Advanced Stage Duchenne Muscular Dystrophy (Sarepta)
4. An Open-Label, Multi-Center, 48-Week Study with a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy (Sarepta)
5. A Pharmacokinetic Study of Oral Deflazacort in Children and Adolescent Subjects With Duchenne Muscular Dystrophy (Marathon Pharmaceuticals, LLC)
6. An Open-Label, Long-Term Extension Study to Evaluate the Safety and Tolerability of Deflazacort in Duchenne Muscular Dystrophy (Marathon Pharmaceuticals, LLC)
Research
Dr. Ciafaloni has a clinical research interest in the best treatment of patients with Duchenne Muscular Dystrophy, the course and outcome of pregnancy in women with muscular dystrophies, and sleep disorders in neuromuscular diseases.
She has been involved in clinical care, research, education and advocacy related to neuromuscular diseases for the past 15 years. Her background as Principal Investigator for several national and international multi-center trials includes: Thymectomy in myasthenia gravis, Cell Cept in myasthenia gravis, Dichlorphenamide (DCP) in periodic paralyses, Mexiletine in myotonia congenital, and Ataluren (PTC124) in Duchenne muscular dystrophy. She is Chair of the Clinical Research Committee of the Muscular Dystrophy Surveillance Tracking and Research Network (MDSTARnet), a CDC funded project on Becker/Duchenne muscular dystrophy( 2004-present).
She is currently Site Investigator for the following Clinical Trials:
1. FOR-DMD: Double-blind randomized trial to optimize steroid regimen in Duchenne MD (1 R01 NS061799-01A2)
2. A Phase II Trial of Rituximab in Myasthenia Gravis- neuroNEXT
3. An Open-Label, Multi-Center Study to Evaluate the Safety and Tolerability of Eteplirsen in Patients with Advanced Stage Duchenne Muscular Dystrophy (Sarepta)
4. An Open-Label, Multi-Center, 48-Week Study with a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy (Sarepta)
5. A Pharmacokinetic Study of Oral Deflazacort in Children and Adolescent Subjects With Duchenne Muscular Dystrophy (Marathon Pharmaceuticals, LLC)
6. An Open-Label, Long-Term Extension Study to Evaluate the Safety and Tolerability of Deflazacort in Duchenne Muscular Dystrophy (Marathon Pharmaceuticals, LLC)
Publications
Journal Articles
1/9/2023
Mann JR, Zhang Y, McDermott S, Wang Y, Cai B, Conway KM, Paramsothy P, Royer J, Venkatesh S, Howard JF, Ciafaloni E. "Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy." Neuroepidemiology.. 2023 Jan 9; Epub 2023 Jan 09.
2023
Ramani PK, Fawcett K, Guntrum D, Samuel H, Ciafaloni E, Veerapandiyan A. "Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies." Child neurology open.. 2023 10:2329048X231159484. Epub 2023 Feb 22.
7/14/2022
Lee BH, Deng S, Chiriboga CA, Kay DM, Irumudomon O, Laureta E, Delfiner L, Treidler SO, Anziska Y, Sakonju A, Kois C, Farooq O, Engelstad K, Laurenzano A, Hogan K, Caggana M, Saavedra-Matiz CA, Stevens CF, Ciafaloni E. "Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years." Neurology.. 2022 Jul 14; Epub 2022 Jul 14.
Books & Chapters
2011
Chapter Title: Myasthenia Gravis
Book Title: Neuromuscular Disorders
Author List: Emma Ciafaloni
Edited By: Rabi n. Tawil and Shannon Venance
Published By: Wiley-Blackwell 2011
2010
Chapter Title: Electrophysiological evaluation of suspected myopathy.
Book Title: Disorders of Voluntary Muscle
Author List: Logigian E. and Ciafaloni E.
Published By: Karpati, Hilton-Jones, Bushby, Griggs 2010
2010
Chapter Title: Neuromuscular Junction Disease
Book Title: Andreoli and Carpenter's Cecil Essentials of Medicine
Author List: Ciafaloni E.
Published By: Saunders Elsevier 2010
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