355 top medical experts on Type C Niemann-Pick Disease across 39 countries and 28 U.S. states, including 220 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Type C Niemann-Pick Disease: An autosomal recessive lipid storage disorder that is characterized by accumulation of cholesterol and sphingomyelins in cells of the viscera and the central nervous system. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Niemann-Pick Diseases (596).
  4. Clinical Trials ClinicalTrials.gov : at least 50 including 11 Active, 20 Completed, 6 Recruiting
  5. Synonyms: Niemann-Pick Disease Type C,  Type D Niemann-Pick Disease,  Niemann-Pick Type C Disease,  Niemann-Pick Type D Disease


  

        

                    


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  1. Ory, Daniel S   Cardiovascular Disease   Google Publications
    Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110.
    Physician  Highly Cited  Highly Published  Clinical Trial  Case Reports 
    Subjects: Niemann-Pick Disease, Type C; Cholesterol; Beta-Cyclodextrins; Carrier Proteins; Membrane Glycoproteins; Lysosomes
    Categories: Genetics; Metabolism; Blood; Drug Therapy; Therapeutic Use; Diagnosis
    Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. (2017)
    Consensus clinical management guidelines for Niemann-Pick disease type C. (2018)

  2. Patterson, Marc C   Neurology   ClinicalTrials.gov Google Publications
    Mayo Clinic Childrens Center, Rochester, MN, USA. Top Hospital
    Physician  Highly Cited  Highly Published  Guideline  Clinical Trial  Review 
    Medical school: Other (MD, 1981)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 79.7/100
    Subjects: Niemann-Pick Disease, Type C; 1-Deoxynojirimycin; Carrier Proteins; Enzyme Inhibitors; Membrane Glycoproteins; Registries
    Categories: Diagnosis; Drug Therapy; Genetics; Analogs & Derivatives; Therapeutic Use; Metabolism
    Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. (2012)
    Consensus clinical management guidelines for Niemann-Pick disease type C. (2018)

  3. Porter, Forbes D   ClinicalTrials.gov Google Publications
    Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
    Scientist  Highly Cited  Highly Published  Clinical Trial  Case Reports 
    Subjects: Niemann-Pick Disease, Type C; Biomarkers; Lysosomes; Beta-Cyclodextrins; 2-Hydroxypropyl-beta-cyclodextrin; Cholesterol
    Categories: Metabolism; Genetics; Blood; Drug Therapy; Pathology; Therapeutic Use
    Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. (2017)
    Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. (2010)

  4. Lieberman, Andrew P   Anatomic Pathology   Google Publications
    Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, USA.
    Physician  Highly Cited  Highly Published 
    Disclosed payments from biomedical company (Salix Pharmaceuticals, a division of Bausch Health US, LLC) in 2021 for $14.18
    Subjects: Niemann-Pick Disease, Type C; Purkinje Cells; Autophagy; Nerve Degeneration; Carrier Proteins; Membrane Glycoproteins
    Categories: Metabolism; Genetics; Pathology; Diagnosis; Drug Effects; Drug Therapy
    Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia. (2021)
    Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease. (2012)

  5. Bianconi, Simona E   Pediatrics  Google Publications
    Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
    Physician  Highly Cited  Highly Published  Clinical Trial  Case Reports 
    Subjects: Niemann-Pick Disease, Type C; 2-Hydroxypropyl-beta-cyclodextrin; Neurodevelopmental Disorders; Carcinoma, Hepatocellular; Disease Progression; Internet
    Categories: Genetics; Complications; Drug Therapy; Physiopathology; Administration & Dosage; Analogs & Derivatives
    Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. (2017)
    Oxidative stress in Niemann-Pick disease, type C. (2010)

  6. Borbon, Ivan A   Internal Medicine  Google Publications
    Department of pediatrics, University of Arizona College of medicine, Tucson, AZ, 85724, USA. Top Hospital
    Physician  Highly Published 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 90/100
    Disclosed payments from biomedical company (Boehringer Ingelheim Pharmaceuticals, Inc.) in 2021 for $123.92
    Subjects: Niemann-Pick Disease, Type C; Lung; Disease Models, Animal; Metabolic Syndrome; Obesity; Proteins
    Categories: Genetics; Metabolism; Drug Therapy; Pathology; Pharmacology; Administration & Dosage
    A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. (2012)
    Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1⁻/⁻ mice. (2011)

  7. Erickson, Robert P   Pediatrics   Google Publications
    Department of Pediatrics, University of Arizona College of Medicine, Tucson, AZ, USA. . Top Hospital
    Physician  Highly Cited  Highly Published 
    Subjects: Niemann-Pick Disease, Type C; Proteins; 2-Hydroxypropyl-beta-cyclodextrin; Intracellular Signaling Peptides and Proteins; Lung; Beta-Cyclodextrins
    Categories: Metabolism; Genetics; Pathology; Drug Therapy; Drug Effects; Pharmacology
    A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. (2012)
    Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease. (2017)

  8. Hastings, Caroline   Pediatric Hematology-Oncology   ClinicalTrials.gov Google Publications
    Department of Pediatric Hematology Oncology, UCSF Benioff Childrens Hospital Oakland, 747 52nd Street, Oakland, CA, 94609-1809, USA. .
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 62/100
    Disclosed payments in 2021 from 5 biomedical companies, totalling $6,217.92, including $6,165 from  AstraZeneca Pharmaceuticals LP
    Subjects: Niemann-Pick Disease, Type C; 2-Hydroxypropyl-beta-cyclodextrin; Amyloid beta-Peptides; B-Lymphocytes; Lysosomes; Metals
    Categories: Metabolism; Pathology; Drug Therapy; Therapeutic Use
    Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. (2014)
    Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis. (2019)

  9. Vanier, Marie T   Google Publications
    INSERM, Lyon, France.
    Scientist  Highly Cited  Highly Published  Guideline  Clinical Trial  Case Reports 
    Subjects: Niemann-Pick Disease, Type C; 1-Deoxynojirimycin; Carrier Proteins; Membrane Glycoproteins; Enzyme Inhibitors; Mutation
    Categories: Genetics; Drug Therapy; Metabolism; Analogs & Derivatives; Diagnosis; Therapeutic Use
    Niemann-Pick disease type C. (2010)
    Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. (2012)

  10. Tortelli, Brett   Radiation Oncology  Google Publications
    Diabetic Cardiovascular Disease Center and Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110.
    Physician  Clinical Trial 
    Subjects: Niemann-Pick Disease, Type C; Alleles; Carrier Proteins; Cholesterol; Disease Models, Animal; Membrane Glycoproteins
    Categories: Blood; Genetics; Administration & Dosage; Drug Therapy; Pathology
    Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. (2013)
    A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele. (2015)

  11. Wang, Raymond Y   Pediatrics  Google Publications
    Division of Metabolic Disorders, CHOC Childrens Specialists, Orange, CA 92868, USA; Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA.
    Physician 
    Disclosed payments in 2021 from 3 biomedical companies, totalling $5,850, including $2,400 from  Takeda Pharmaceuticals U.S.A., Inc.
    Subjects: Niemann-Pick Disease, Type C; 2-Hydroxypropyl-beta-cyclodextrin; Phosphorylcholine; Glycine; Intracellular Signaling Peptides and Proteins
    Categories: Blood; Drug Therapy; Genetics; Therapeutic Use; Cerebrospinal Fluid; Diagnosis
    Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. (2020)
    Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis. (2019)

  12. Austin, Christopher P   Neurology  Google Publications
    National Center for Advancing Translational Sciences, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Subjects: Niemann-Pick Disease, Type C; Cooperative Behavior; Beta-Cyclodextrins; 2-Hydroxypropyl-beta-cyclodextrin; AMP-Activated Protein Kinases; Calcium Signaling
    Categories: Metabolism; Drug Therapy; Pathology; Drug Effects; Therapeutic Use; Administration & Dosage
    Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. (2017)
    Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease. (2014)

  13. Ramirez, Charina M   Pediatric Gastroenterology   Google Publications
    Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA. Top Hospital
    Physician 
    Disclosed payments in 2021 from 25 biomedical companies, totalling $6,253.64, including $5,900 from  Travere Therapeutics, Inc.
    Subjects: Niemann-Pick Disease, Type C; Cholesterol; Aging; Proteins; Beta-Cyclodextrins; Anticholesteremic Agents
    Categories: Metabolism; Administration & Dosage; Drug Therapy; Pathology; Deficiency; Drug Effects
    Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick type C1 mouse and markedly prolongs life. (2010)
    Systemic administration of 2-hydroxypropyl-β-cyclodextrin to symptomatic Npc1-deficient mice slows cholesterol sequestration in the major organs and improves liver function. (2014)

  14. Paulson, Henry L   Neurology  Google Publications
    Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
    Physician 
    Subjects: Niemann-Pick Disease, Type C; Brain; Cell Cycle Proteins; F-Box Proteins; Lipoproteins, HDL; Macroautophagy
    Categories: Genetics; Metabolism; Pathology; Drug Therapy; Therapeutic Use
    Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. (2010)
    Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain. (2020)

  15. Shakkottai, Vikram G   Neurology  Google Publications
    Department of Neurology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.
    Physician 
    Subjects: Niemann-Pick Disease, Type C; Purkinje Cells; HSP27 Heat-Shock Proteins; Lipoproteins, HDL; Nerve Degeneration; Neurons
    Categories: Genetics; Metabolism; Pathology; Drug Therapy; Therapeutic Use
    Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. (2010)
    Heat Shock Protein Beta-1 Modifies Anterior to Posterior Purkinje Cell Vulnerability in a Mouse Model of Niemann-Pick Type C Disease. (2016)

  16. Xavier, Ramnik J   Gastroenterology   Google Publications
    Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
    Physician 
    Medical school: Other (MD, 1986)
    Medicare Accepted
    Subjects: Niemann-Pick Disease, Type C; Autophagy; Acetylmuramyl-Alanyl-Isoglutamine; Crohn Disease; Genetics, Medical; Granuloma
    Categories: Genetics; Drug Effects; Metabolism; Pathology; Pharmacology; Physiopathology
    Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. (2017)
    Small-molecule enhancers of autophagy modulate cellular disease phenotypes suggested by human genetics. (2015)

  17. Walterfang, Mark     Google Publications
    Neuropsychiatry Unit, Royal Melbourne Hospital, Parkville, Victoria, Australia.
    Physician  Highly Cited  Highly Published  Guideline  Case Reports  Review 
    Subjects: Niemann-Pick Disease, Type C; Brain; Saccades; 1-Deoxynojirimycin; Mental Disorders; Cerebellum
    Categories: Pathology; Diagnosis; Diagnostic Imaging; Epidemiology; Metabolism; Physiopathology
    Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. (2012)
    Consensus clinical management guidelines for Niemann-Pick disease type C. (2018)

  18. Krainc, Dimitri   Neurology  Google Publications
    Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. Top Hospital
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 86.9/100
    Disclosed payments in 2021 from 2 biomedical companies, totalling $9,619.57, including $9,619.57 from  Eli Lilly and Company
    Subjects: Niemann-Pick Disease, Type C; Amyloid Precursor Protein Secretases; Aspartic Acid Endopeptidases; Brain; Nerve Tissue Proteins
    Categories: Metabolism
    BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains. (2018)
    Modeling Brain Pathology of Niemann-Pick Disease Type C Using Patient-Derived Neurons. (2021)

  19. Silber, Steven A   Internal Medicine  Google Publications
    Global Public Health, Johnson & Johnson, Philadelphia, PA, USA.
    Physician  Clinical Trial 
    Subjects: Niemann-Pick Disease, Type C; 2-Hydroxypropyl-beta-cyclodextrin; Cooperative Behavior; Disease Progression; Drug Discovery; Beta-Cyclodextrins
    Categories: Drug Therapy; Administration & Dosage; Organization & Administration; Therapeutic Use
    Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. (2017)
    Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease. (2014)

  20. Shin, Samuel D   Radiation Oncology  Google Publications
    Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, 24785 Stewart St, Loma Linda, California, USA.
    Physician 
    Disclosed payments in 2021 from 3 biomedical companies, totalling $57.61, including $22.66 from  BOSTON SCIENTIFIC CORPORATION
    Subjects: Niemann-Pick Disease, Type C; Brain; Amyloid beta-Protein Precursor; Cerebellum; Interferons; Signal Transduction
    Categories: Metabolism; Pathology; Genetics
    Interferon downstream signaling is activated early in pre-symptomatic Niemann-Pick disease type C. (2019)
    Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C. (2019)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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