KathrynJ.SwobodaMD(She/Her)

Neurology • Boston, MA

Katherine B Sims MD Chair in Neurogenetics, Emeritus

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Office
Center for Genomic Medicine
185 Cambridge St
Boston, MA 02114
Phone+1 801-910-6474

Summary

Dr. Kathryn Swoboda is a neurologist and geneticist, recently retired from clinical practice in Boston, MA. She is the former inaugural Katherine B Sims MD Endowed Chair in Neurogenetics at Massachusetts General Hospital, where she continues to collaborate closely with colleagues at the MGH Center for Genomic Medicine and Harvard Medical School, the American College of Genetics and Genomics Sponsored Newborn Screening Translational Research Network, and the Chan-Zuckerberg Initiative for Patient-Partnered Collaborations in Neurodegeneration. She has more than 180 peer reviewed publications with over 15,000 citations.

Education & Training

Harvard Medical School1994 - 1997
Tufts Medical CenterFellowship, Clinical Neurophysiology, 1995 - 1996
Brigham and Women's Hospital/Massachusetts General Hospital/Harvard Medical SchoolResidency, Neurology, 1990 - 1994
University of Chicago (NorthShore)Internship, Transitional Year, 1990 - 1991
Northwestern University The Feinberg School of MedicineClass of 1990

Certifications & Licensure

MA State Medical License 1996 - 2026
UT State Medical License 1998 - 2016
American Board of Psychiatry and Neurology Neurology

Clinical Trials

Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Start of enrollment: 2005 Sep 01
Completed
Phase 2
Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy Start of enrollment: 2003 Sep 01
Completed
Phase 1
Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Start of enrollment: 2008 Jan 01
Terminated
Phase 1, Phase 2
Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Start of enrollment: 2008 Jan 01
Terminated
Phase 1, Phase 2
Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy Start of enrollment: 2007 Jul 01
Completed
Phase 2
Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Start of enrollment: 2007 Jul 01
Completed
Phase 1, Phase 2
CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I Start of enrollment: 2008 Apr 01
Completed
Phase 1, Phase 2
A Pilot Study of Biomarkers for Spinal Muscular Atrophy Start of enrollment: 2008 Oct 01
Completed
Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO) Start of enrollment: 2009 Aug 01
Completed
Phase 1, Phase 2
Progressive Strength Training in Spinal Muscular Atrophy Start of enrollment: 2010 Jun 01
Completed
Not Applicable
Study of Kuvan Treatment in Adults With GTPCH Deficiency Start of enrollment: 2011 Aug 01
Completed
Phase 1, Phase 2
An Open-label Safety, Tolerability, and Dose-range Finding Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Start of enrollment: 2011 Nov 30
Completed
Phase 1
An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Start of enrollment: 2012 Oct 31
Completed
Phase 1, Phase 2
Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development Start of enrollment: 2012 Dec 01
Completed
An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1 (NCT01494701) Start of enrollment: 2013 Jan 31
Completed
Phase 1
A Study to Collect Blood Samples From Patients With Spinal Muscular Atrophy for Biomarker Analysis Start of enrollment: 2013 Aug 01
Completed
An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in ISIS 396443-CS2 (NCT01703988) or ISIS 396443-CS10 (NCT01780246) Start of enrollment: 2014 Jan 31
Completed
Phase 1
A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy Start of enrollment: 2015 May 18
Active, not recruiting
Phase 2
A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies Start of enrollment: 2015 Nov 04
Completed
Phase 3
Prospective Evaluation of Infants With Spinal Muscular Atrophy: Start of enrollment: 2016 Feb 01
Recruiting
Expanded Access Program (EAP) for Nusinersen in Participants With Infantile-onset (Consistent With Type 1) Spinal Muscular Atrophy (SMA)
No longer available
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Publications & Presentations

PubMed

297 citations
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole
Nature Genetics. 2012-09-01
295 citations
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-co...
Gillian I. Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby
The Lancet. Neurology. 2013-12-01
412 citations
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow, Diana Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella Forte
American Journal of Medical Genetics. Part A. 2015-02-01

Press Mentions

Integrating Science to Find Cures in Child NeurologyJune 27th, 2020
Biogen's NURTURE Data, and Other News: The Good, Bad and Ugly of BiopharmaJune 16th, 2020
Nusinersen Found Promising for Spinal Muscular AtrophyJanuary 5th, 2017
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Grant Support

The Utah Regional Network For Excellence In Neuroscience Clinical TrialsNational Institute Of Neurological Disorders And Stroke2011
Pilot Newborn Screening Project For Identification And Prospective Followup Of InEunice Kennedy Shriver National Institute Of Child Health &Human Development2011
Therapeutic Opportunities In Spinal Muscular AtrophyEunice Kennedy Shriver National Institute Of Child Health &Human Development2007–2011
Clinical Trial: Valproic Acid And Carnitine In Patients With Spinal Muscular ATRNational Center For Research Resources2008
Clinical And Molecular Analysis Of Neuromuscular DiseaseNational Center For Research Resources2007–2008
Clinical And Genetic Analysis Of Spinal Muscular AtrophyNational Center For Research Resources2007–2008
Valproic Acid And Carnitine In Patients With Spinal Muscular AtrophyNational Center For Research Resources2006–2007
Genetic Characterization Of Episodic Neurologic DysfunctionNational Center For Research Resources2004–2006
Clinical And Molecular Studies In Spinal Muscular AtrophyNational Center For Research Resources2004–2006

KathrynJ.SwobodaMD(She/Her)

Dr. Swoboda is on Doximity

Summary

Education & Training

Certifications & Licensure

Clinical Trials

Publications & Presentations

Press Mentions

Grant Support

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