Emma Ciafaloni, M.D.

Emma Ciafaloni, M.D.

Contact Information

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 673
Rochester, NY 14642

Office: (585) 275-4568
Fax: (585) 273-1255
Administrative: (585) 275-2559

Professional Bio

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 Bio

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)

Awards & Honors (National)

Guide to America's Top Physicians 2012 - Present
Elected by her peers for inclusion in Best Doctors in America 2007 - Present
Pharmacia & Upjohn Research Award: For Outstanding Research in Myasthenia Gravis 2000

Awards & Honors (Local)

Patient and Family –Centered-Care Award | University of Rochester Medical Center 2011

Recent Journal Articles

Showing the 5 most recent journal articles. 60 available »

2015 Mar
Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, Ciafaloni E, Cunniff C, Druschel CM, Mathews KD, Matthews DJ, Meaney FJ, Andrews JG, Conway KM, Fox DJ, Street N, Adams MM, Bolen J, . "Prevalence of duchenne and becker muscular dystrophies in the United States." Pediatrics. 2015 Mar; 135(3):513-21. Epub 2015 Feb 16.
2015 Feb
Scully MA, Farrell PM, Ciafaloni E, Griggs RC, Kwon JM. "Cystic fibrosis newborn screening: a model for neuromuscular disease screening?" Annals of neurology. 2015 Feb; 77(2):189-97. Epub 2014 Dec 13.
2014 Nov 6
James KA, Cunniff C, Apkon SD, Mathews K, Lu Z, Holtzer C, Pandya S, Ciafaloni E, Miller L. "Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy." Journal of pediatric orthopedics. 2014 Nov 6; Epub 2014 Nov 06.
2014 Nov
Imbornoni L, Price ET, Andrews J, Meaney FJ, Ciafaloni E, Cunniff C. "Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy." American journal of medical genetics. Part A. 2014 Nov; 164A(11):2769-74. Epub 2014 Aug 14.
2013 Nov 12
Peay HL, Scully MA, Cwik VA, Ciafaloni E, Griggs RC. "Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?" Neurology. 2013 Nov 12; 81(20):1802.

Current Appointments

Professor - Department of Neurology, NMD (SMD) - Primary
Professor - Department of Pediatrics (SMD)

Specialties

Neuromuscular Medicine - American Board of Psychiatry and Neurology
Neurology - American Board of Psychiatry and Neurology

Education

MD | Medicine | Italy-Fac Med U Milan1989
Clinical neurophysiology | Duke University Medical CenterAttended 1999 - 2000
Neurology | Duke University Medical SchoolAttended 1996 - 1999

Post-Doctoral Training & Residency

Fellowship in Neuromuscular Disease at Duke University School of Medicine09/01/1999 - 06/30/2000
Residency in Neurology at Duke University School of Medicine09/01/1996 - 06/30/1998
Residency in Neurology at Duke University School of Medicine09/01/1994 - 06/30/1995
Residency in Neurology at Universita Degli Studi Di Milano09/01/1989 - 06/30/1993
Internship in Neuromuscular Disease at Universita Degli Studi Di Milano09/01/1988 - 06/30/1990
Internship in Internal Medicine at Duke University School of Medicine06/30/1996