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Photo of Dr. Gustavo Maegawa

Gustavo Henrique B Maegawa, M.D.

Director, Lysosomal Storage Disease (LSD) Program, Johns Hopkins Hospital

Male  | Languages: English, French, Portuguese

Appointment Phone


Main Location

Johns Hopkins Pediatric Specialty Clinic

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  • Director, Lysosomal Storage Disease (LSD) Program, Johns Hopkins Hospital

Centers & Institutes



Johns Hopkins Pediatric Specialty Clinic

Appointment Phone: 410-955-2000

200 N. Wolfe Street
Rubenstein Child Health
Baltimore, MD 21287 map



Research Interests

Development of treatment strategies for lysosomal storage diseases on pre-clinical and clinical level; Molecular pathogenesis of lysosomal storage diseases; Molecular mechanism and manipulation of protein folding; Understanding the regulation of the posttranslational endoplasmic reticulum quality control system


Dr. Gustavo H. B. Maegawa is an assistant professor of pediatrics at the Johns Hopkins University School of Medicine. His areas of clinical expertise include pediatrics. Dr. Maegawa serves as director of the Lysosomal Storage Disease (LSD) Program at The Johns Hopkins Hospital.


Dr. Maegawa earned his M.D. from Universidade Federal do Parana Medical School in Brazil and his Ph.D. from the University of Toronto. He completed his residency at Hospital de Clinicas in Porto Alegre, Brazil and performed a fellowship in clinical genetics at The Hospital for Sick Children in Toronto.

His research interests include the development of treatment strategies for lysosomal storage diseases on a pre-clinical and clinical level.

Dr. Maegawa is a faculty member in the Medical Genetics Residency and Clinical Genetics Fellowship programs at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins. He was awarded a Research Initiative Award from the National Tay-Sachs Allied Disease Association. more

    Additional Information

  • Education +


    • Universidade Federal do Parana Medical School- Coordenao do Curso de Medicina (UFPR) / MD (2000)


    • Hospital de Clinicas de Porto Alegre-Servico de Genetica Medica / Pediatric Genetics (2003)


    • Hospital for Sick Children (2008)


    • American Board of Medical Genetics / Clinical Biochemical Genetics (2007)
    • American Board of Medical Genetics / Clinical Genetics / MD (2005)
  • Research & Publications +

    Research Summary

    The research in Dr. Maegawa’s lab is focused on developing new therapies of lysosomal storage diseases (LSDs). These inherited metabolic conditions are caused by defects in a wide spectrum of lysosomal and a few non-lysosomal proteins, resulting in the accumulation of undigested or partially digested intermediates. Small molecule therapeutics are an attractive approach to treat LSDs. Enzyme-enhancement agents, including pharmacological chaperones (PC), are small molecules that are able to assist a mutant misfolded protein to achieve a native-like conformation in the endoplasmic reticulum (ER), allowing it to escape the ER-associated degradation (ERAD) pathway and reach the lysosome.

    In Dr. Maegawa’s early studies screening an FDA-approved drug library, pyrimethamine, a drug used to treat malaria and toxoplasmosis, was identified as a PC for hexosaminidase A, which is deficient in GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) (Maegawa et al. 2007). In another study, ambroxol, a drug used for chronic bronchitis, was found to enhance and stabilize mutant forms of glucocebrosidase, an enzyme deficient in Gaucher disease (Maegawa et. al. 2009).

    Currently, the lab is developing high throughput screening (HTS) assays to identify specific chemical compounds to assist folding of mutant lysosomal proteins.


    Dr. Maegawa’s lab is focused on developing new therapies for lysosomal storage diseases (LSDs) based on the understanding of molecular mechanisms of the pathogenesis of these diseases.

    Ongoing research projects are related to:

    • Identifying small molecule therapies by HTS assays using LSD patient cells
    • Investigating pathogenic cascades in LSDs as potential therapeutic targets
    • LSD clinical studies

    Clinical Trials:

    A Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 12 Weeks to Adult Fabry Patients

    Selected Publications View all on PubMed

    Kano SI, Yuan M, Cardarelli RA, Maegawa G, Horiuchi Y, Higurashi N, Gaval-Cruz M, Wilson AM, Tristan C, Kondo MA, Chen Y, Koga M, Obie C, Ishizuka K, Seshadri S, Srivastava R, Kato TA, Sedlak TW, Lee Y, Rapoport JL, Hirose S, Okano H, Valle D, O'Donnell P, Sawa A, Kai M. "Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy." Curr Mol Med. 2015 Mar 2. [Epub ahead of print

    Teixeira CA, Miranda CO, Sousa VF, Santos TE, Malheiro AR, Solomon M, Maegawa GH, Brites P, Sousa MM. "Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease." Neurobiol Dis. 2014 Jun;66:92-103. doi: 10.1016/j.nbd.2014.02.012. Epub 2014 Mar 6.

    Alqahtani E, Huisman TA, Boltshauser E, Scheer I, Güngör T, Tekes A, Maegawa GH, Poretti A. "Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum." Eur J Paediatr Neurol. 2014 Mar;18(2):211-7. doi: 10.1016/j.ejpn.2013.11.014. Epub 2013 Dec 31.

    Pastores GM, Maegawa GH. "Clinical neurogenetics: neuropathic lysosomal storage disorders." Neurol Clin. 2013 Nov;31(4):1051-71. doi: 10.1016/j.ncl.2013.04.007. Review.

    Ribbens JJ, Moser AB, Hubbard WC, Bongarzone ER, Maegawa GH. "Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease." Mol Genet Metab. 2014 Feb;111(2):172-83. doi: 10.1016/j.ymgme.2013.09.011. Epub 2013 Sep 21.

  • Academic Affiliations & Courses +
  • Activities & Honors +


    • Research Fellowship, Life for Luke Foundation, 2006
    • Exceptional Trainee Award, Genetics & Genomic Biology Program, The Hospital for Sick Children Research Institute Retreat, 2007
    • Research Initiative Award, National Tay-Sachs Allied Disease Association, 2010


    • American Society for Mass Spectrometry (ASMS), 2014
    • American Association for the Advancement of Science (AAAS), 2014
    • American Society of Biochemistry and Molecular Biology (ASBMB), 2012
    • Society of Inborn Error of Metabolism (SSIEM), 2007
    • American College of Medical Genetics (ACMG), 2007
    • American Board of Medical Genetics (ABMG), 2005
    • American Society of Human Genetics (ASHG), 2002
    • Canadian College of Medical Geneticists (CCMG), 2006 - 2009
    • The College of Physicians and Surgeons of Ontario (CPSO), 2003 - 2008

    Professional Activities

    • Member, Scientific Advisory Council, National Tay-Sachs Disease Association and Allied Disorders (NTSAD), Boston, MA, 2014
    • Member, Endocrinology and Metabolic Drugs Advisory Committee, Food and Drug Administration, Rockville, MD, 2003
    • Member, Editorial board, Molecular Genetics and Metabolism (MGM) Reports
  • Videos & Media +

    Lectures and Presentations

    “Lysosomal Storage Diseases: Molecular Pathogenic Mechanisms and Therapeutic Investigations, Human Genetics Graduate Course Lecture”
    Lecture , Baltimore, MD (01/31/2014)
    Johns Hopkins School of Medicine

    “A Case of 5-Year Old with Recurrent Abdominal Pain”
    Lecture , Johns Hopkins Harriet Lane Case Conference – Acute Care Clinic , Baltimore, MD (01/13/2014)
    Johns Hopkins

    “A Case of Mucolipidosis Type I/II”
    Lecture , Johns Hopkins Pediatric Case Conference , Baltimore, MD (04/05/2013)
    Johns Hopkins

    “Lysosomal Storage Diseases: Molecular Pathophysiology and Therapeutic Investigations,”
    Lecture , Human Genetics Graduate Course Lecture , Baltimore, MD (11/18/2010)
    Johns Hopkins School of Medicine

    “High-Throughput Screening for the Discovery of Small Molecules as Therapeutic Agents for Lysosomal Storage Diseases”
    Lecture , Molecular Genetics Laboratory Meeting , Baltimore, MD (11/08/2010)
    Johns Hopkins Hospital

    “Cardiac Syndromes in Inherited Metabolic Diseases”
    Pediatric Cardiology Review Course , Baltimore, MD (10/25/2010)
    Johns Hopkins Hospital

    “Enzyme Replacement Therapy, Mutant Protein Stabilization in Lysosomal Storage Diseases”
    Advanced Topics in Human Genetics, Human Genetics Graduate Course Lecture , Baltimore, MD (04/26/2010)
    Johns Hopkins University School of Medicine

    “Case of 13-Year Old Boy With Chronic Hypertension and Eye Problems”
    Lecture , Genetic Perspective of Nephronophthisis, Pediatric Case Conference , Baltimore, MD (04/23/2010)
    Johns Hopkins Hospital Children’s Medical Center

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