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Susan Sparks, MD, PhD

Chief, Division of Genetics

Specialties

Genetics

Board Certifications

Pediatrics, Clinical Genetics, Clinical Biochemical Genetics

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Locations

Children's Pavilion

1000 East Broad Street
Richmond, VA 23219

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1000 E. Broad Street
Richmond, VA 23219

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Areas of interest

Inborn errors of metabolism
Lysosomal diseases
Clinical genetics
Metabolic genetics
Newborn screening
Neurogenetics
Neuromuscular diseases
Medical education

Bio

Dr. Sparks is a board-certified pediatric metabolic geneticist with more than 20 years of experience in academic clinical and clinical/translational research. Her U.S. and global industry experience is focused on rare neuro-metabolic, neuromuscular and other genetic diseases. Her clinical expertise includes pediatric genetics, metabolic genetics, newborn screen follow-up and neurogenetics. In addition to clinical care, she has strong expertise in phase II-IV clinical development, evidence generation, scientific research, publications/presentations and medical education.

Education

Medical School Chicago Medical School at Rosalind Franklin University

Residency Medical College of Wisconsin and Children's Hospital of Wisconsin

Fellowship National Institutes of Health - Metropolitan DC Clinical and Biochemical Genetics

Research interests

Metabolic diseases; newborn screening; neuromuscular diseases; neurogenetics

Publications

Kishnani PS, Van Den Hout JMP, Hahn A, Kronn D, Chien Y-H, Han M, Heuterman J, Sparks S, Glen C and Daba N (2026) Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review. Front. Immunol. 16:1690312. doi: 10.3389/fimmu.2025.1690312
Kronn D, Davison J, Broomfield A, Brassier A, Labarthe F, Hahn SH, Kumada S, Ohki H, Prakalapakorn SG, Wilson C, Haack KA, Huynh-Ba O, Richards S, Sparks S, Tammireddy S, Zhou T, Chien YH, Kishnani PS; Mini-COMET investigators (2025). The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa. J Pediatr. 2025 May 29:114664. PMID: 40449831
Rachedi F, Jreich R, Sparks S, Zaher A, an Haack K, Granados A, Meng Z (2024). Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile-onset Pompe disease. CPT Pharmacometrics Syst Pharmacol. 2024, Dec 13; 00:1–13. PMID: 39670959
Kishnani PS, Chien Y-H, Berger KI, Thibault N, Sparks S (2024). Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease. Mol Genet Metab. 143: 108559. PMID: 39154400
Mansfield C, Boeri M, Coulter J, Baranowski E, Sparks S, An Haack K, Hamed A (2024). The value of knowing: preferences for genetic testing to diagnose rare muscle diseases. Orphanet J Rare Dis. 2024 Apr 22;19(1):173. PMID: 38649872
Dimachkie MM, Kishnani PS, Ivanescu C, Flore G, Gwaltney C, van der Beek NAME, Hamed A, An Haack K, Pollissard L, Baranowski E, Sparks SE, DasMahapatra P; for COMET Study Group (2023). Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study. Neurol Clin Pract 2023 Oct;13(5):e200181. PMID: 37559825
Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, An Haack K, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, and Chien Y-H (2022). 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 Analysis Report. Genet Med 2023 Feb;25(2):100328. PMID: 36542086
Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, Hahn SH, Hillman R, Kronn D, Leslie ND, Peña LDM, Sparks SE, Stockton DW, Tanpaiboon P, Day JW; Pompe ADVANCE Study Consortium. (2022). Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. J Neuromuscul Dis 2022 Oct 3. doi: 10.3233/JND-210784. Online ahead of print. PMID: 36214004
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY, Pompe ADVANCE Study Consortium. (2022). Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiol Young 32(3):364-373. PMID: 34420548
Hamed A, An Haack K, Gwaltney C, Baranowski E, Stewart A, Krupnick R, Tyler M, Sparks S, Paty J. (2021). Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective. Orphanet J Rare Dis 16(1):428. PMID: 34641935
Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. (2020). The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Orphanet J Rare Dis. 15(1):11. PMID: 31931849
Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH; Pompe ADVANCE Study Consortium. (2019). Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Genet Med. 21(11):2543-2551. PMID: 31086307
Berger KI, Kanters S, Jansen JP, Stewart A, Sparks S, Haack KA, Bolzani A, Siliman G, Hamed A. (2019). Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis. J Neurol. 266(9):2312-2321. PMID: 31187190
Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Lofra RM, Blamire AM, Carlier PG, Mittal P, Lowes LP, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, Decostre V, Mendez JB, Sánchez-Aguilera Praxedes N, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prügel J, Maron E, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Díaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. (2019). Assessment of disease progression in dysferlinopathy: A 1-year cohort study. Neurology. 92(5):e461-74. PMID: 30626655.
Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS; Pompe ADVANCE Study Consortium. (2018). Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. Genet Med. 20(10):1284-1294. PMID: 29565424.
Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. (2018). Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. J Neurol Neurosurg Psychiatry. 89(11):1224-1226. PMID: 29378789
Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium (2018). Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. J Neurol Neurosurg Psychiatry. 89(10):1071-1081. PMID: 29735511.
Wu B, Shah SN, Lu P, Bollinger LE, Blaeser A, Sparks S, Harper AD, Lu QL. (2018). Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy. Am J Pathol. 188(4):1069-1080. PMID: 29571322
Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD. (2017). A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet Med. 19(3):297-305. PMID: 27513191
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH. (2016). ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 37(7):653-60. PMID: 26931382
Lavigne J, Sharr C, Elsharkawi IM, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P,Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG (2017). Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. Am J Med Genet A. 173A: 1539-1545. PMID: 28332275
Sharr C, Lavigne J, Elsharkawi IM, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P,Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. (2016). Detecting celiac disease in patients with Down syndrome Am J Med Genet A. 170(12): 3098-3105 PMID: 27605215
Wu B, Shah SN, Lu P, Richardson SM, Bollinger LE, Blaeser A, Madden KL, Sun Y, Luckie TM, Cox MD, Sparks S, Harper AD, Lu QL.. (2016). Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRP P448L Mutation. Am J Pathol. 186(6):1635-48 PMID: 27109613.
Lavigne J, Sharr C, Ozonoff A, Prock LA, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McCannon JB, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellowdy K, Voelz L, Skotko BG. (2015) National Down syndrome patient database: Insights from the development of a multi-center registry study. Am J Med Genet A.167A(11):2520-6. PMID: 26249752
Sparks SE (2015). Neonatal Hypotonia. Clin in Perinatol 42(2): 363-371. PMID: 26042909
Blaeser A, Sparks S, Brown SC, Campbell K, Lu Q. (2014) Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April, 2013, Charlotte, USA. Brain Pathol 24(3): 280-4. PMID 24397416.
Blaeser A, Keramaris E, Chan YM, Sparks S, Cowley D, Xiao X, Lu QL (2013). Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. Hum Genet Apr 17 (Epub ahead of print) PMID: 23591631.
Schreiber JM, Lanham DC, Trescher WH, Sparks SE, Wassif CA, Caffo BS, Porter FD, Tierney E, Gropman AL, Ewen JB. (2014) EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients. Neurology 83(2): 151-9. PMID 24920862
Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD. (2014) Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis 37(3): 415-20. PMID 24500076.
Valencia CV, Ankala A, Rhodenizer D, Bhide S, Littlejohn MR, Keong LM, Rutkowski A, Sparks S, Bonnemann C, Hegde M (2013). Comprehensive mutation analysis for congenital muscular dystrophy: A clinical PCR-based enrichment and next-generation sequencing panel. PLOS ONE 8(1): e53083 PMID: 23326386.
Sparks SE (2012). Congenital protein hypoglycosylation diseases. App Clin Genet 5:43-54.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh T, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. (2011) Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat Sept 21, 2011 Epub ahead of print. PMID 21948486.
Theisen A, Rosenfeld JA, Shane K, McBride KL, Atikin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo, Crowley R, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG. (2010) Refinement of the region for split hand/foot malformation 5 on 2q31.1. Mol Syndromol 1:262-271. PMID: 22140379
Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O’Brien KJ, Tsilou E, JWhite JG, Huizing M, Gahl WA. (2009) Hermansky-Pudlak Syndrome in two African-American brothers, Am. J. Med. Genet. Part A. 149A: 987-992. PMID19334085
Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H, Hughes VA, Dwyer A, Hayes FJ, Xu S, Sparks S, Kaiser UB, Mohammadi M, Pitteloud N. (2009) Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 94(11): 4380-90. PMID19820032
Nagaraju K, Rawat R, Veszelovszky, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, Hoffman EP. (2008) Dysferlin deficiency enhances phagocytosis by monocytes: A model for the inflammatory onset of limb-girdle muscular dystrophy 2B, Am J Pathol. 172: 774-85. PMID18276788
Solomon B, Turner C, Klugman D, Sparks S. (2007) Trisomy 9 mosaicism-XX sex reversal, Am. J. Med. Genet., 143(22):2688-91. PMID17935231
Krasnewich D, O’Brien K, Sparks S. (2007) Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia), Am. J. Med. Genet., 145: 302-306. PMID17261181
Sparks S, Rakocevic G, Joe G, Shrader J, Sonies B, Manoli I, Ciccone C, Krasnewich D, Huizing M, Dalakas D, Gahl W. (2007) Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy, BMC, Neurology Jan 29; 7: 3. PMID17261181
Savelkoul PJM, Manoli I, Sparks SE, Ciccone C, Gahl WA, Krasnewich DM, Huizing M. (2006). “Normal Sialylation of Serum N-linked and O-GalNAc-linked Glycans in Hereditary Inclusion Body Myopathy”. Mol. Genet. Metab. 88: 389-390. PMID16762577
Sparks SE. (2006) “Inherited disorders of glycosylation”, Mol. Genet. Metab. 87: 1-7. PMID16511948
Sparks SE, Ciccone C, Lalor M, Orvisky E, Sanchez C, Gottlieb E, Klootwijkb R, Savelkoul PJ, Dalakas MC, Krasnewich D, Gahl WA, Huizing M. (2005) “Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human Hereditary Inclusion Body Myopathy”, Glycobiology, 15: 1102-1110. PMID15987957
Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC. (2004) “Hypoglycosylation of a-dystroglycan in patients with hereditary IBM due to GNE mutations”, Mol. Genet. Metab., 81:196-202. PMID14972325

Book chapters

Sparks SE (2018). Congenital Disorders of Glycosylation and Epilepsy, Chapter 34 in Inherited Metabolic Epilepsies, 2nd ed. P.L. Pearl, editor, Demos Medical Publishing, New York, pp 428-444.
Sparks SE (2013). Congenital Disorders of Glycosylation and Epilepsy, Chapter 24 in Inherited Metabolic Epilepsies, P. Pearl, editor, Demos Medical Publishing, New York, pp 273-286.
Sparks SE, Escolar DE (2011). Congenital Muscular Dystrophies, Chapter 4 in Handbook of Clinical Neurology: Muscular Dystrophies (vol 101), Elsevier, Amsterdam.

Invited publications

Sparks SE (2013). Update on Newborn Screening. NCMJ 74(6):514-517.
Quijano-Roy S, Sparks S, Rutkowski A. (2012) LAMA2-Related Muscular Dystrophy in GeneReviews.
Sparks S, Quijano-Roy S, Harper A, Rutkowski A, et al. (2011). Congenital Muscular Dystrophy Overview in GeneReviews.
Sparks S. (2007). Inherited disorders of glycosylation, Encyclopedia of Life Sciences, John Wiley & Sons.
Sparks SE, Krasnewich DM. (2005). Congenital Disorders of Glycosylation Overview. In: GeneReviews
Sparks SE, Krasnewich DM. (2005). Congenital Disorder of Glycosylation Type Ia. In: GeneReviews

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