• SAVE THE DATE: Thursday, January 23, 2020 for the next NTSAD Be Informed webinar
• A Visit to Aspa Therapeutics
• Canavan Families CANinform
• UPDATED: NTSAD's Tay-Sachs Carrier Screening Position Statement
• IntraBio Clinical Trial: Update
• Tay-Sachs in the 21st Century Conference
• NTSAD Research Grant Progress Report: Role of microglia in Sandhoff disease pathology, Tony Futerman, PhD, Weitzman Institute of Science, Israel

Aspa Press Releases, Canavan gene therapy program

Axovant Gene Therapies, GM2 study

Canavan Natural History Video Launch

Global Genes Rare Patient Advocacy Summit

Late Onset Think Tank October 3-4, 2019

FoCUS: An MIT Initiative

Clinical Trial Updates:
GM1 Gene Therapy
GM2 Gene Therapy
Canavan Gene Therapy
Retrotope
Site at Mayo Clinic Opened for IntraBio IB1001 Clinical Trial

Natural History Studies to Inform Clinical Trials

NTSAD Meets the Team at Passage Bio

JScreen and Next Generation Sequencing (NGS)

Grant Updates from NTSAD-funded Research Projects

Axovant press release of March 11, 2019 with an update on a patient that was treated last fall with the AXO-AAV-GM2 gene therapy.

41st Annual Family Conference: April 11-14, 2019
- Helping Hands Grant
- Research Sessions
- GM1 Research Breakout
- GM2 Infantile-Juvenile Research Breakout
- GM2 Late Onset Research Breakout
- Canavan Research Breakout

FDA Approves IntraBio Clinical Trials for GM2, Tay-Sachs, and Sandhoff

Passage Bio company launch with GM1 gene therapy program

Aspa Therapeutics meets with The Canavan Foundation

Global Leukodystrophy Initiative (GLIA) to Meet in May

Building a Brighter Future for Rare Brain Disease Patients: March 12, 2019 | Auburn University

February 2019 WORLD Symposium - Summary of Nine (9) Presentations on Lysosomal Storage Diseases

New method for the determination of a GM1-Gangliosidosis-specific biomarker (final report)

Dr. Stéphane Demotz, DORPHAN
Dr. Tim Wood, Greenwood Genetic Center

Rapid Identification of New Biomarkers for the Classification of GM1 and GM2 Gangliosidoses: A Coupled H NMR and LC/MS-Linked Metabolomics Strategy (final report)

Martin Grootveld, De Montfort University 

Accelerated program for CSF delivery of AAV gene therapy forTay-Sachs and Sandhoff patients

Miguel Sena-Esteves, PhD, UMass Medical School

What are biomarkers?

Attention Canavan Families!

Meeting Axovant: An Opportunity to Share

2019 NTSAD Annual Family Conference: Research Session

Axovant Sciences, Inc. announced they are licensing the GM1 and GM2 gene therapy programs from UMMS

UMass Medical School and Tay-Sachs Gene Therapy Consortium (TSGT) begin work to file Investigational New Drug (IND) application to the FDA

Register for the GM2 Patient Insight Network (PIN)

NTSAD Research Grant Progress Reports

• Identifying Novel Therapeutics for Treating GM2 Gangliosidoses
• Novel Combined Gene/Cell Therapy Strategies to Provide Full Rescue of the Sandhoff Pathological Phenotype

Late Onset Think Tank

Second GM1 Research Symposium, Irvine, CA

Rare Diseases on Capitol Hill

• NTSAD's Research Initiative Process
• NTSAD Research Initiative 2018 Grants
• Trend Community and the Tanganil Health Initiative
• Invitae Patient Insights Network
• 2018 Eighth Annual Day of Hope for research

NTSAD Annual Family Conference: Research Session Overview

Keynote Address: Steve Walkley, PhD, DVM

New Research Initiatives:
Document and analyze GM2 and GM1 patient experiences with off-label use of Tanganil
Patient Insights Network (PIN)  to gather information about the patient experience

GM2 (Tay-Sachs, Sandhoff) - Infantile and Juvenile:
Cynthia Tifft, MD, PhD and Miguel Sena-Esteves, PhD

GM1 Gangliosidosis:
Doug Martin, PhD, Samantha Parker, Alessandra d’Azzo, PhD

Canavan Disease:
Dominic Gellser, bridgebio

Late Onset Tay-Sachs and Late Onset Sandhoff diseases:
Drs. Camilo Toro, MD, and Sarah Ying, MD, Heather Gray-Edwards, PhD

Additional News:
Adeno-associated Virus (AAV) Delivery Routes: What are they?
RARE Toolkits: A Guide to Gene Therapy
Celebrating the Moms of Gene Therapy
2018 Million Dollar Bike Ride: Team NTSAD

NTSAD Annual Family Conference: Research Session

Chris Stephens, MBchB, Massachusetts General Hospital
Team NTSAD 2017 Million Dollar Bike Ride Grant Recipient

2018 Research Initiative Request for Proposals: Grant Process Update

Advocacy Alert: Right to Try legislation

Sandhoff Disease and proof of principle for gene therapy | American Society for Biochemistry and Molecular Biology

NTSAD Research Initiative Grants: Updates

Novel combined gene/cell therapy strategies to provide full rescue of the Sandhoff pathological phenotype
Principal Investigator: Angela Gritti, PhD
Institution: San Raffaele Telethon Institute for Gene Therapy
Progress Report after Year 1

Development and validation of a rapid, MS/MS-based method to detect Hexosaminidase deficiency in Tay-Sachs disease
Principal investigator: Denis C. Lehotay, PhD
Institution: Queens University

Clinical outcomes and brain metabolites in patients with late onset Tay-Sachs and Sandhoff disease
Cynthia J. Tifft, Camille Wang, Jean Johnston, Katherine Alter, Edythe Wiggs, Beth I. Solomon, Colleen E. Wahl, MIchele Nehrebecky, Rena Godfrey, Lea Latham, Catherine Groden, Eva Baker, Tanya Lehky, Camilo Toro

Functional performance in late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), longitudinal data over 3 consecutive years
Ana C. Puga, Alaa Hamed, Julie Kissell, Pascal Minini, Anureet K. Pabla, Susan Kahn, Florian Eichler, Christopher D. Stephen, Cynthia J. Tifft, Camilo Toro, Jean Johnston, Heather A. Lau, Elizabeth Haxton, Heather Gray-Edwards, Tanya Fischer

Reclassification of common variants of unknown significance in the hexosaminidase A gene: implications for Tay-Sachs carrier screening
Elizabeth D Smith , Karen A Grinzaid, Melanie Hardy, Alana Cecchi, Laura Kiger, Dale Muzzey, Eerik Kaseniit, Krista Moyer

Also:
14th Annual WORLD Symposium: Highlights
Encouraging News from the Cure & Action for Tay-Sachs (CATS) Foundation

University of Pennsylvania Orphan Disease Center Million Dollar Bike Ride Grant Award for Team NTSAD:

Brain MRI signatures in infants with infantile forms of GM-1 and GM-2
Principal Investigator, Igor Nestrasil, MD, PhD, University of Minnesota

GM2 Tay-Sachs & Sandhoff Patient Insights Network (PIN)

Rare Disease Day: February 28, 2018

UPDATE: NTSAD and Cure Tay-Sachs Foundation (CTSF) partner for the 2018 Request for Proposals

FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss

Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice

WORLD Symposium Meeting
February 5-9,201, San Diego, California

This year, NTSAD will be joined by the Cure Tay-Sachs Foundation (CTSF) in this RFP. CTSF is a grassroots organization focused on funding Tay-Sachs research since its inception by parents just over ten years ago.

Grants will be awarded for an initial period of one year at up to $40,000 direct costs per year (5% indirect cost rate); funding for a second year is predicated by adequate progress during year 1. The application will use a two-step process. First, a one page pre-application will be submitted. From these pre-applications, investigators will be chosen to submit a full application. The application format and review criteria are specified on page 2 of this RFP.

The deadline for submission of one-page pre-applications is January 12, 2018.

• NTSAD Partners with Cure Tay-Sachs Foundation (CTSF) for 2018 Request for Proposals
• Paper Published by NTSAD 2017 Grant Recipient, Dr. Alessandra Biffi details a new promising approach to lentiviral gene therapy - Intracerebroventricular delivery of hematopoietic progenitors results in rapid and robust engraftment of microglia-like cells
• What is “Expanded Access?"
• IntraBio Update
• Case study detailing results of bone marrow transplantation in a juvenile Tay-Sachs patient- Haematopoietic Stem Cell Transplantation Arrests the Progression of eurodegenerative Disease in Late-Onset Tay-Sachs Disease
• Going Big: How Massachusetts General Hospital (MGH) Neurology is Using Big Data for Big Benefits

2017 - 2018 Request for Proposals

• Final Report for Research Project - The Hexosaminidase A Variants of Unknown Significance (HAVUS)
• Committee Opinion - carrier screening panels to test individuals or couples for a number of disease genes at the same time, American College of Obstetricians and Gynecologists
• GM1 Patient Insight Network Launch
• 2017 Imagine & Believe: A Conversation with Our Honorees
• Reflections on 10 years By Sue Kahn, Executive Director
• Sangamo Therapuetics announced that they have treated the first patient in a landmark Phase 1/2 clinical trial evaluating in vivo genome editing for mucopolysaccharidiosis II (MPS II), also known as Hunter Syndrome

• OrPhi Therapeutics SBIR Award
• Grant funded for research project “Accelerated program for CSF delivery of AAV gene therapy for Tay-Sachs and Sandhoff patients”
• Individualized Medicine Conference and Lysosomal Disease Symposium
• 2017 Day of Hope Results
• What is Tanganil? Clinical trials for acetyl-DL-leucine (IB-1000) on the horizon
• Luxturna, first gene therapy for inherited disease recommended for approval
• Stem cell gene therapy shows positive results in clinical trials for an inherited leukodystrophy
• Prospective natural history in GM1 and GM2 gangliosidoses
• Enzyvant Initiates Farber Disease Natural History Study
• Our Heritage and Our Health: Ashkenazi Jewish Genetic Diseases and the Founder Effect

• Lectin-assisted transnasal delivery of corrective enzyme for GM1 gangliosidosis (Final Report)
• Late Onset Tay-Sachs Registry & Repository
• Defining the Natural History of Canavan Disease through development of an International Registry
• IntraBio Clinical Trials for Tay-Sachs Disease IB1000
• Lysosomal Disease Symposium, Wednesday, October 11, 2017
• Temple Eanuel event October 29, 2017, Our Heritage and Our Health - Ashkenazi Jewish Genetic Diseases and the Founder Effect
• 2017 Day of Hope Results and Somm Time Wine Bar event in NYC, October 5, 2017