Dr. Marc Patterson on NP-C Disease

April 15, 2011 - Dr. Marc Patterson teaching CRND students, faculty and guests..

Marc C. Patterson, M.D. is a Professor of Neurology, Pediatrics and Medical Genetics, Chair of the Division of Child and Adolescent Neurology and the Director of the Child Neurology Training Program at Mayo Clinic. He is also on the Scientific Adisory Board for NNPDF - The National Niemann-Pick Disease Foundation.

Dr. Patterson visited the CRND and presented a Clinical-Translational Seminar entitled: "Niemann-Pick disease, type C - challenges and opportunities in a rare disease." Dr. Patterson's audience at the CRND responded with enthusiasm to the native Australian physician's panoramic overview of NP-C disease, which integrated both clinical and research perspectives in a frame, which one observer described as "the art of medicine." The art of medicine refers to the practitioner's way of responding to the needs and real suffering of patients (e.g., Dr. Bernadine Healy sums up the approach in four principles, "mastery," "individuality," "humanity," and "morality").*

Dr. Patterson's systematic review of NP-C placed it in the context of neurodegenerative disorders, which are a subset of rare diseases. His coverage of these neurodegenerative disorders evoked a classical medical school lecture for the UND pre-med students in attendance: defining characteristics; clinical phenotypes, systemic involvements and classification in terms of tissue and cell types, biochemistry and mechanisms of genetic and cellular dysfunction; prevalence and age distribution; surveillance studies and complications to diagnosis; mendelian inheritance patterns; the metabolic and molecular bases of disease; genetic mutations; signs and symptoms, current diagnostic testing; treatment and more.

Dr. Patterson's discussion of treatment suggested a bi-fold approach, looking to symptomatic and supportive as well as "disease-modifying" treatment. In terms of symptomatic treatment, Dr. Patterson emphasized the importance of remembering that "all diseases are treatable" whether or not they are can be immediately and definitively modified. The role of diet, exercise and emotional health are critical, according to Dr. Patterson. And, standards of care promote both the quality and duration of patients' lives. Summarizing key disease-modifying interventions, Dr. Patterson discussed: gene repair or replacement of gene products; modulation of gene expression; depletion of toxic substrates or metabolites; anti-inflammatory measures, restoration of calcium homeostatis, and interdiction of apoptosis. Finally, Dr. Patterson traced the history of important studies in therapies for NP-C, including his own clinical trial of Miglustat, which has been reported (Patterson, MC et al., Lancet Neurol 2007 6(9): 765-772) and is currently under extended study.

In his discussion of the challenges for NP-C research in the near future, Dr. Patterson affirmed the need for: better tools for early diagnosis in order to reduce irreversible tissue damage with earlier intervention; more biomarkers to track the clinical progression of the disease; large-scale animal studies with adequate power and controls to reduce "noise" and the potential to misinterpret or overinterpret anomalous results (adequate animal studies must precede translation to human studies); and the development of "best practices" in clinical care and clinical trials to improve morbidity and mortality and reduce "noise".

* Bernadine Healy, MD. "Medicine, The Art," posted to health.usnews.com on 7/15/07



Marc Patterson graduated from the University of Queensland (Australia) medical school and his internship and earlier residency training (Pediatrics, Internal Medicine, Neurology) was at the Royal Brisbane and Royal Children's Hospitals in Queensland. Subsequent residency training in Child Neurology and Pediatric/Adolescent Medicine was at the Mayo School of Graduate Medicine in Rochester, MN. His fellowship was at the Neurometabolic Disease, Developmental and Metabolic Neurology Branch, NIH, Bethesda, MD. His Clinical and Senior Clinical Fellowships in Pediatric Neurology were at the Mayo Clinic. Dr. Patterson's certifications include: Neurology (Royal Australasian College of Physicians), Neurology with special qualification in Child Neurology (American Board of Psychiatry and Neurology), and Neurodevelopmental disabilities (American Board of Psychiatry and Neurology). Dr. Patterson is on the Scientific Advisory Board for the National Niemann-Pick Disease Foundation.

Dr. Patterson investigates Niemann-Pick disease, type C (NPC) and other lysosomal diseases, and congenital disorders of glycosylation. His research experience includes laboratory studies at the University of Queensland (Neuropharmacology) and National Institutes of Health (NIH) (lysosomal diseases -LSDs) as well as participation in clinical studies, therapeutic trials and natural history studies at NIH, Columbia University and Mayo Clinic. Dr. Patterson's work explores the development of novel small molecule therapies for LSDs. He was principal investigator of a prospective trial of miglustat in NPC and of a retrospective study of the use of miglustat in NPC in clinical practice. Currently, Dr. Patterson is participating in the development of therapeutic protocols for metachromatic dystrophy and globoid cell leukodystrophy. He is a member of the Human Glycosylation Disorders Network, and a member of the Lysosomal Disease Network Steering Committee.

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