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11th Annual WORLD Symposium ~ 2015

11th Annual WORLD Symposium | 2015


 

symposium-2015

The goal of the WORLD (We’re Organizing Research for Lysosomal Diseases) symposium is to provide a forum to discuss the challenges to research and development of treatments for patients with rare diseases, and to identify opportunities to support the advancement of therapeutic options. Clinicians and researchers who work with lysosomal diseases will have the opportunity to learn about the progression of research and therapy approval processes for a variety of different diagnoses and therapies via face-to-face lectures and in-depth discussion with a panel of experts. This symposium is designed to help patient advocates, scientists, clinicians and other health care professionals identify what resources and actions will be needed to move lysosomal disease research forward.

symposium-2015-attendees

Members of the NNPDF, CCNNPDF, INPDA and the International NNPDF Scientific Advisory Board are currently in attendance at the WORLD Symposium in Orlando, Florida ~ Tuesday, Feb 10th ~ Thursday, Feb 12th, 2015.  The attendees are filling a variety of roles tied to our patient advocacy membership representation, presentations of research and keynote speakers for symposiums addressing the next generation of lysosomal disorders:  Treatment, Biomarkers and Talent needed to succeed in the Future.

The NNPDF is pleased to provide copies of the scientific research presentations below via published abstracts.

Niemann-Pick Representatives In Attendance:

  • Sandra Cowie
    NNPDF Research Committee Chair and  CCNNPDF Member of the Board of Director’s
  • Nadine Hill
    NNPDF Executive Director
  • Jim Green
    INPDA President and NPD UK Member of the Board of Director’s
  • Miriam Evans
    INPDA Project Coordinator and NPC Parent
  • Cristin Davidson
    SOAR Post-Doctorate Researcher and Patient Advocate, Poster Presentation
  • Dr. Marc Patterson
    International NNPDF Scientific Advisory Board ~ Special Guest/Presenter
  • Dr. Steve Walkley
    International NNPDF Scientific Advisory Board ~ Speaker/Presenter
  • Dr. Edward Schuchman
    International NNPDF Scientific Advisory Board ~ Speaker/Presenter
  • Dr. Melissa Wasserstein
    NNPDF Grant Recipient (ASMD) ~ Speaker/Presenter
  • Dr. Charles Vite
    NNPDF Research Grant Recipient (NPC) ~ Speaker/Presenter

On the Agenda: Tuesday, February 10th, 2015

7:05 – 7:20 PM
Lysosomal Disease Research – Challenges and Opportunities
Marc C. Patterson
*Member of the International NNPDF Scientific Advisory Board*

7:20 – 7:35 PM
Lysosomal Disease Research – What will it take to move forward?
Emil D. Kakkis

7:35 – 7:50 PM
Lysosomal Disease Future – Who do we need to
champion the cause and carry the load?
Timothy M. Cox


Presentation Abstracts

Abstract publication notice.
Published in the February 2015 special “Lysosomes Issue” of Molecular Genetics and Metabolism (MGM). Articles and full text of the abstracts from this issue can be purchased individually from Elsevier. The journal has been published and is available online.


Acid Sphingomyelinase Deficiency (ASMD) Presentation

Hepatic pathology of acid sphingomyelinase deficiency: Clearance of sphingomyelin with recombinant human acid sphingomyelinase administration is associated with improvement in pro-atherogenic lipid profiles

Principal Investigators: Beth Thurberg, Melissa P. Wasserstein, Simon A. Jones, Thomas Schiano, Gerald F. Cox, Ana Cristina Puga, Genzyme, Cambridge, MA, USA, Icahn School of Medicine at Mount Sinai, New York, NY, USA, Manchester Centre for Genomic Medicine St. Mary’s Hospital, CMFT, University of Manchester, Manchester, UK

Click here to read the abstract

An open-label, multicenter, ascending-repeat-dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)

Principal Investigators: Melissa P. Wasserstein, Simon A. Jones, Handrean Soran, George Diaz, Natalie Lippa, Beth L. Thurberg, Kerry Culm-Merdek, Elias Shamiyeh, Haig Inguilizian, Ana Cristina Puga, Icahn School of Medicine at Mount Sinai, New York, NY, USA, Manchester Centre for Genomic Medicine, St. Mary’s Hospital, CMFT, University of Manchester, Manchester, UK, Genzyme, a Sanofi Company, Cambridge, MA, USA, Sanofi, Bridgewater, NJ, USA

Click here to read the abstract


Niemann-Pick Type C Presentations

Intracisternal cyclodextrin ameliorates neurological dysfunction, increases survival time, and stops Purkinje cell death in feline Niemann–Pick type C1 disease

Principal Investigators: Charles H. Vite, Jessica H. Bagea, Gary P. Swain, Maria Prociuk, Tracey U. Sikora, Patricia O’Donnell, Therese Ruane, Sarah Ward, Alexandra Crooks, Su Li, Elizabeth Mauldin, Veronika Stein, Daniel S. Ory, Mark L. Kao, Cristin Davidson, Marie T. Vanier, Steven U. Walkely, University of Pennsylvania, Philadelphia, PA, USA, Washington University School of Medicine, St Louis, MO, USA, Janssen Pharmaceutical Companies of Johnson and Johnson, Titusville, NJ, USA, Albert Einstein College of Medicine, Bronx, NY, USA, Université Claude Bernard, Lyon, France

Click here to read the abstract

Rapid kinetics of β-cyclodextrin entering and exiting cells: Implication of its mechanism on reduction of cholesterol accumulation in Niemann–Pick disease type C cells

Principal Investigators: Sheng Dai, Andrés E. Dulcey, Manju Swaroop, Juan Marugan, John McKew, Wei Zheng, National Institutes of Health, Bethesda, MD, USA

Click here to read the abstract

Improved diagnostics of Niemann–Pick disease type C by the analysis of plasma oxysterols

Principal Investigators: Janine Reunert, Frank Kannenberg, Manfred Fobker, Thorsten Marquardt, University Hospital Muenster, Muenster, Germany

Click here to read the abstract

Novel use of the lysosomal enzyme acid ceramidase for the treatment of inflammatory lung diseases, including cystic fibrosis

Principal Investigator: Edward H. Schuchman, John Clancy, Emily Dimango, Irina Petrache, Erich Gulbins, Xingxuan Hea, Icahn School of Medicine at Mount Sinai, New York, NY, SA, Cincinnati Children’s Hospital, Cincinnati, OH, USA, Columbia University School of Medicine, New York, NY, USA, Indiana University School of Medicine, Indianapolis, IN, USA, University of Essen, Essen, Germany

Click here to read the abstract

Experience with 7-ketocholesterol and ccl18/parc as surrogated biomarkers in a series of Spanish Niemann–Pick disease type C patients

Principal Investigators: Jorge J. Cebollaa, Isabel De Castro-Orósc, Pilar Irúna, Pilar Alfonso, Laura López de Frutos, Marcio Andrade-Campos, Miguel Pocovíc, Pilar Giraldo, Universitary Hospital Miguel Servet, Zaragoza, Spain, Aragon Health Sciences Institute (I+CS), Zaragoza, Spain, University of Zaragoza, Zaragoza, Spain, Spanish Foundation of Gaucher Disease and other Lysosomal Disorders (FEETEG), Zaragoza, Spain, Biomedical Network Research Center on Rare Biology and Diseases (CIBERER), ISCIII, Zaragoza, Spain

Click here to read the abstract

A new formulation for the treatment of neurological and systemic defects in Niemann–Pick disease type C

Principle Investigators: Suhail Alam, Michelle Getz, Yana Fedotova, Kasturi Haldar, University of Notre Dame, Notre Dame, IN, USA

Click here to read the abstract