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Emma Ciafaloni, M.D.

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

Faculty Appointments

Patient Care Setting

Neurology

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

Specialties

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

Education

1989
MD | Universita Degli Studi di Milano (Italy)

Post-doctoral Training & Residency

09/01/1999 - 06/30/2000
Fellowship in Neuromuscular Medicine at Duke University Medical Center GME-UNVERIFIABLE

09/01/1996 - 06/30/1998
Residency in Neurology at Duke University Medical Center GME-UNVERIFIABLE

07/01/1995 - 06/30/1996
Internship in Internal Medicine at Duke University Medical Center GME-UNVERIFIABLE

09/01/1994 - 06/30/1995
Residency in Neurology at Duke University Medical Center GME-UNVERIFIABLE

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

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

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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

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Publications

Journal Articles

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.

4/30/2022
Paramsothy P, Wang Y, Cai B, Conway KM, Johnson NE, Pandya S, Ciafaloni E, Mathews KD, Romitti PA, Howard JF, Riley C. "Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network." Neuromuscular disorders : NMD.. 2022 Apr 30; Epub 2022 Apr 30.

4/5/2022
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, , Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. "Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial." JAMA.. 2022 Apr 5; Epub 2022 Apr 05.

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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