Rochester, Minnesota Clinical Profile


Marc C. Patterson, M.D., studies Niemann-Pick disease type C and other lysosomal diseases, congenital disorders of glycosylation, and pediatric multiple sclerosis.

Dr. Patterson's research activities have included laboratory studies in neuropharmacology at the University of Queensland and in lysosomal diseases at the National Institutes of Health (NIH).

He has also participated in clinical trials and natural history studies at NIH, Columbia University and Mayo Clinic. Dr. Patterson's research has been funded by the NIH, industry, the National MS Society and other not-for-profit foundations.

Focus areas

  • How can the course of Niemann-Pick disease type C be improved? Dr. Patterson has focused on the development of novel small-molecule therapies for lysosomal diseases. He was the principal investigator of a prospective trial of miglustat in Niemann-Pick disease type C and of a retrospective study of the use of miglustat in Niemann-Pick disease type C in clinical practice.

    Based on his work, miglustat has been approved for the treatment of Niemann-Pick disease type C in the European Union and several other countries.

  • How does cognition change over time in Niemann-Pick disease type C? Dr. Patterson is collaborating with colleagues at NIH to track cognitive changes over time in a cohort of children and adults with Niemann-Pick disease type C. This study is part of the Lysosomal Disease Network, an NIH-supported Rare Disease Clinical Research Consortium.
  • What new approaches can be used to treat other underserved lysosomal storage diseases? Dr. Patterson is participating in the development of therapeutic protocols for metachromatic dystrophy and globoid cell leukodystrophy.
  • What is the natural history of congenital disorders of glycosylation? Dr. Patterson is working with colleagues in the U.S. and overseas to develop a database to track the natural history of these diseases through the Human Glycosylation Disorders Network.

    He is also helping to identify new disorders through a collaboration with glycobiologists at the Sanford-Burnham Medical Research Institute in La Jolla, Calif.

  • What is the natural history of multiple sclerosis and related disorders in children? Dr. Patterson co-directs the Mayo Clinic Center of Excellence for Pediatric Multiple Sclerosis with Moses Rodriguez, M.D.

    The center provides multidisciplinary care to children with demyelinating diseases and enrolls suitable candidates in a national database, which is improving researchers' understanding of these diseases in children.

Significance to patient care

Dr. Patterson's work has made the first disease-modifying therapy available to people afflicted by Niemann-Pick disease type C. He is continuing to work to improve the duration and quality of life for children and adults with this and other lysosomal storage diseases.

His work will also lead to improved diagnosis and management of congenital disorders of glycosylation and childhood demyelinating disorders, including multiple sclerosis.

Professional highlights

  • Steering Committee, Lysosomal Disease Network
  • Leader, Educational Core, Lysosomal Disease Network
  • Co-Principal Investigator, Mayo Clinic Center of Excellence for Pediatric Multiple Sclerosis, 2009-present
  • Professor and Chair, Division of Pediatric Neurology, Columbia University, 2000-2007
  • Chair, Division of Child and Adolescent Neurology, Mayo Clinic Children's Center, 2008-present
  • Whitaker Professor, American Neurological Association, 2006
  • E. Stanley Emery Lectureship, University of Vermont, 2006
  • Abby Stoddard Lectureship, University of Colorado and Children's Hospital Denver, 2006


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Academic Rank

  1. Professor of Medical Genetics
  2. Professor of Neurology
  3. Professor of Pediatrics


  1. MD - Awarded under section 6529 of the NY State Education Law State University of New York
  2. Special Clinical Fellow Department of Pediatric and Adolescent Medicine
  3. Fellow - Neurometabolic and Neurogenetic diseases Developmental and Metabolic Neurology Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, Warren Grant Magnusson Clinical Center, National Institutes of Health
  4. Senior Clinical Fellow - Pediatric Neurology Mayo School of Graduate Medical Education, Mayo Clinic College of Medicine
  5. Clinical Fellowship - Pediatric Neurology Mayo School of Graduate Medical Education, Mayo Clinic College of Medicine
  6. Medical Registrar - Pediatrics Royal Children's Hospital
  7. Medical Registrar - Internal Medicine, Nephrology, Hematology/Oncology Royal Brisbane Hospital
  8. Junior House Officer - Internal Medicine, Nephrology, Hematology/Oncology Royal Brisbane Hospital
  9. Rotating Internship - Internal Medicine, Pediatrics, Surgery, Psychiatry, Ophthalmology Royal Children's Hospital, Royal Brisbane Hospital
  10. MB BS University of Queensland

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