SusanESparksMD

Medical Genetics • Cambridge, MA

Clinical Biochemical Genetics, Clinical Genetics

Physician

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Office
500 Kendall St
Cambridge, MA 02142
Phone+1 617-519-1310

Education & Training

National Institutes of Health Clinical CenterResidency, Medical Genetics and Genomics, 2002 - 2004
Medical College of Wisconsin Affiliated HospitalsResidency, Pediatrics, 1999 - 2002
Chicago Medical School at Rosalind Franklin University of Medicine and ScienceClass of 1999

Certifications & Licensure

NC State Medical License 2009 - 2025
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics

Awards, Honors, & Recognition

Physician Practice Connections Recognition Program National Committee for Quality Assurance, 2010-2013

Clinical Trials

Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD) Start of enrollment: 2005 Dec 01
Unknown status
Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Start of enrollment: 2010 Feb 01
Completed
Phase 2, Phase 3
Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping Start of enrollment: 2012 Apr 01
Unknown status
Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping Start of enrollment: 2012 Sep 01
Unknown status
Limb Girdle Muscular Dystrophy (LGMD) Natural History Start of enrollment: 2011 Nov 01
Completed
A Study of Tadalafil for Duchenne Muscular Dystrophy Start of enrollment: 2013 Sep 01
Terminated
Phase 3
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Publications & Presentations

PubMed

7 citations
Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective.
Alaa Hamed, Kristina An Haack, Chad J. Gwaltney, Eileen Baranowski, Andrew Stewart
Orphanet Journal of Rare Diseases. 2021-10-12
42 citations
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Pawel Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt
Human Mutation. 2012-01-01
17 citations
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary...
Priya S Kishnani, David Kronn, Anaïs Brassier, Alexander Broomfield, James Davison
Genetics in Medicine. 2023-02-01