11th Annual WORLD 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.
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
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
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
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
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
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
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
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
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