Leading the worldwide fight to treat and cure
Tay-Sachs, Canavan, GM1 and Sandhoff diseases

NTSAD’s 43rd Annual Family Conference Research "Exhibit" Hall

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

Download pdf here (170 KB) .


Download pdf here (110 KB) .


Download pdf here (162 KB) .


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

Download pdf here (986 KB) .


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

Download pdf here (278 KB) .


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

Download pdf here (351 KB) .


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.


Download pdf here (1.41 MB) .


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

Download pdf here (289 KB) .


Download pdf here (180 KB) .

Breakout Sessions

  • Canavan

    Watch the presentations from the 2021 NTSAD Family Conference research breakout session for Canavan disease. Read More
  • GM1 Gangliosidosis

    Watch the presentations from the 2021 NTSAD Family Conference research breakout session for GM1 Gangliosidosis. Read More
  • Infantile/Juvenile GM2

    Watch the presentations from the 2021 NTSAD Family Conference research breakout session for GM2 Gangliosidosis. Read More
  • Late Onset

    Watch the presentations from the 2021 NTSAD Family Conference research breakout session for Late Onset GM2. Read More
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Virtual Conference

View the NTSAD Annual Family Conference Research Exhibit Hall

Please contact Becky Benson, Conference and Family Services Coordinator here with any questions or concerns that are conference related.

2021 Conference Sponsors

COURAGE
HOPE
Laura and Simeon Schindelman
INSPIRATION
DETERMINATION
COMMUNITY
Bonnie and Barry Davis in loving memory of Adam Davis 
The Evan Lee Ungerleider Fund
NTSAD New York Area Fund 
*sponsors as of 4/15/21

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