This NTSAD Exhibit hall features posters, abstracts and papers published by companies and researchers developing potential therapies for Canavan, GM1 Gangliosidosis, Sandhoff and Tay-Sachs diseases. Below are submissions made for the NTSAD 43rd Annual Family Conference and organized by disease-focus.
GM1 Gangliosidosis
AllStripes
GM1 Gangliosidosis
Cohort Insights Fall 2020
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GM1 and GM2 Gangliosidosis
THE RETRIEVE STUDY: A NATURAL HISTORY STUDY OF TYPE 2 GAUCHER DISEASE, AND GM1 AND GM2 GANGLIOSIDOSES WITH EARLY ONSET
Héron B,1 Batzios S,2 Mengel E,3 Giugliani R,4 Patterson M,5 Gautschi M,6 Alcantara J,7 Cornelisse P,7 Trokan L,7 Schwierin B,7 Rohrbach M8
1Armand Trousseau Hospital, AP-HP - Hôpitaux Universitaires Est Parisien, Reference Centre for Lysosomal Diseases, Paris, France. 2Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. 3SphinCS GmbH, Hochheim, Germany. 4Department of Genetics UFRGS, Porto Alegre, Brazil. 5Mayo Clinic, Rochester, MN, US. 6Department of Paediatrics and Institute of Clinical Chemistry, University Hospital Bern, Inselspital, Bern, Switzerland. 7Idorsia Pharmaceuticals Ltd, Allschwil, Switzerland. 8Divison of Metabolism and Childrens’ Research Center, Universitäts-Kinderspital, Zürich, Switzerland
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GM2 Gangliosidosis (Sandhoff and Tay-Sachs)
GM2DR – The Tay Sachs and Sandhoff Disease Multinational Patient Reported Data Registry
Why a multinational registry is key to better understanding and improving outcomes of patients suffering from Tay Sachs and Sandhoff diseases
Matos JE, PhD1; Brignoli L2, Lewi D3 1 Kantar, Health Division, New York, NY, USA; 2 Kantar, Health Division, Paris, France; 3 CATS, Founder & CEO, London, UK
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Unravelling the Differences Between Infantile Tay Sachs and Sandhoff Disease Using the GM2 Disease Registry
Lewi D1; Furegato M2 ; Brignoli L2 ; Matos JE3
CATS, Founder & CEO, London, UK; 2 Kantar, Health Division, Paris, France; 3 Kantar, Health Division, New York, NY, USA
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(351 KB)
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Co-creating a gene therapy clinical trial with GM2 gangliosidosis caregivers: a virtual approach to patient engagement
LaBounty Phillips K,1,2 McGinnis E,2 Seda J,2 Goodspeed K,3 Gerhart M,2 Prasad S2
EVERSANA(TM)ENGAGE, 400 Connell Dr., Suite 2000, Berkeley Heights, NJ 07922. 2Taysha Gene Therapies, BioCenter at UT Southwestern, 2280 Inwood Rd, Dallas, TX 75235. 3Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390.
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(1.41 MB)
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Late Onset GM2 Patient Journey
AUTHORS Mariah C. LOPSHIRE, MS1, Selena FREISENS, MD1, Milos PETROVIC, MD1, John BURNS, PhD2, Rebecca GOULD2, Kathy NGUYEN2
1 Sanofi Genzyme, Cambridge, MA, USA, 2 Fulcrum Research Group, Waltham, MA, USA
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