Skip to main content
Explore URMC

URMC Logo

menu

Emma Ciafaloni, M.D.

Neurology

Clinical Interests

Neuromuscular Disease

Contact Information

Phone Numbers

Appointment: (585) 275-2559

Administrative: (585) 275-2559

Office: (585) 275-4568

Fax: (585) 273-1255

URMFGA member of the University of Rochester Medical Faculty Group

groupAn Accountable Health Partner

assignmentAccepting New Patients

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)

Credentials

Faculty Appointments

Specialties

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

Education

1989
MD | Italy-Fac Med U Milan
Medicine

1996-1999
| Duke University Medical School
Neurology

1999-2000
| Duke University Medical Center
Clinical neurophysiology

Post-doctoral Training & Residency

09/01/1988 - 06/30/1990
Internship in Neurology: Neuromuscular Medicine at Universita Degli Studi Di Milano

09/01/1989 - 06/30/1993
Residency in Neurology at Universita Degli Studi Di Milano

09/01/1994 - 06/30/1995
Residency in Neurology at Duke University School of Medicine

0701/1995 - 06/30/1996
Internship in Internal Medicine at Duke University School of Medicine

09/01/1996 - 06/30/1998
Residency in Neurology at Duke University School of Medicine

09/01/1999 - 06/30/2000
Fellowship in Neurology: Neuromuscular Medicine at Duke University School of Medicine

VIEW ALL expand_more

Awards

2012 - Present
Guide to America's Top Physicians

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

2007 - Present
Elected by her peers for inclusion in Best Doctors in America

2000
Pharmacia & Upjohn Research Award: For Outstanding Research in Myasthenia Gravis

VIEW ALL expand_more

Publications

Journal Articles

7/21/2017
Gissy JJ, Johnson T, Fox DJ, Kumar A, Ciafaloni E, van Essen AJ, Peay HL, Martin A, Lucas A, Finkel RS, . "Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials." Neuromuscular disorders : NMD.. 2017 Jul 21; Epub 2017 Jul 21.

7/2017
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC. "Developing standardized corticosteroid treatment for Duchenne muscular dystrophy." Contemporary clinical trials.. 2017 Jul 0; 58:34-39. Epub 2017 Apr 24.

6/2017
Latimer R, Street N, Conway KC, James K, Cunniff C, Oleszek J, Fox D, Ciafaloni E, Westfield C, Paramsothy P, . "Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy." Journal of child neurology.. 2017 Jun 0; 32(7):663-670. Epub 2017 Apr 09.

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-Blackwell2011

2010
Chapter Title: Neuromuscular Junction Disease
Book Title: Andreoli and Carpenter's Cecil Essentials of Medicine
Author List: Ciafaloni E.
Published By: Saunders Elsevier2010

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, Griggs2010

VIEW ALL PUBLICATIONS