In this issue:

• 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

In this issue

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

In this issue:

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

In this issue:

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.

In this issue:

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

In this issue:

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

In this issue: BREAKING NEWS

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

In this issue:

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)

In this issue:

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

In this issue:

• 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

In this issue:

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

In is issue:

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

In this issue:

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

In this issue:

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

Pre-applications due on January 12, 2018

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.

In this issue:

• 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

In this Issue:

2017 - 2018 Request for Proposals

In this Issue:

• 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

In this issue:

• 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

In this issue:

• 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

In this issue:

Orphazyme and Heat Shock Protein, American Academy of Neurology research program, Individualizing Medicine Conference, Oct 2017, Our Heritage and Our Health - Ashkenazi Jewish Genetic Diseases and the Founder Effect, Carey Goldberg of RadioBoston on the CRISPR story, 2017 Day of Hope

In this issue:

RESEARCH INITIATIVE: PROGRESS UPDATES

Off-cycle Grant Announcements 

In this issue:

Canavan Update including Natural History Studies, AltaVoice: Canavan Patient Insight Network, and What is Canavan Disease?

In this Issue:

2017 NTSAD Research Initiative Grant Awards

Tay-Sachs Gene Therapy Consortium Update

Thank You Team NTSAD on the Fourth Annual Million Dollar Bike Ride

In this Issue:

A Summary of the WORLD Meeting, Allison Bradbury, PhD, Heather Gray-Edwards, DVM, PhD and Staci Kallish, DO

Sphingolipidoses membrane lipids regulate and modify sphingolipid catabolism, its enzymes, lipid binding and transfer proteins

Cardiovascular manifestations of feline Sandhoff disease after intravenous gene therapy

An FDA Perspective on Rare Disease Drug Development

Long term survival of sheep with Tay-Sachs disease after intracranial delivery of a novel bicisiontronic AAV therapy vector

May 20, 2017 | Philadelphia Million Dollar Bike Ride

NTSAD Conference Research Session on March 31, 2017

Families and Researchers Collaborate in Advancing Therapy: The Role of NTSAD, Together with Parents, in Driving Toward Treatments

This issue gives the summaries of the 2016 NTSAD Research Initiative grant recipients.

This issue features summaries of the presentations made during the NTSAD 2016 Annual Family Conference GM-1 Research Meeting held on Saturday, April 9, 2016 in Orlando, Florida. Co-sponsored with Cure GM-1 and Lysogene.

This issue features summaries of the presentations made during the NTSAD 2016 Annual Family Conference Research Update session held on Friday, April 8, 2016 in Orlando, Florida.

Research Grant progress reports and updates, gene therapy in the news, 

WORLD Meeting Summaries from 2016 meeting

New Late Onset grant, MRI and MRS as surrogate markers for GM1 progression, Jacob Sheep 

CRISPR, Is Traumatic Brain Injury Reversible?, and RFP for 2016 grant cycle

About GM-1, updates on GM-1 research, and other research news.

In This Issue:

What is Pyrimethamine?
What's the Story with Daraprim?
What is off-label use?
What is Pharmacological Chaperone?
21st Century Act Passes
2015 Day of Hope
Late Onset Natural History Studies

In this issue:

Leukodystrophy Awareness
What is Canavan Disease?
What's Happening with Canavan Research?
Research Grant Pre-Application Deadline
2015 Day of Hope

In This Issue:

The Importance of Natural History Studies
Late Onset Focus Group and Assessment Update
Rare Disease Grant Opportunity
2015 Fifth Annual Day of Hope

In this Issue

Fifth Annual Day of Hope, Sept. 19, 2015
An International Flair to Benefit Research
Teeing off for Research a Success!
Coming Soon: Million Dollar Bike Ride
NTSAD Scientific Advisory Committee
NTSAD Corporate Advisory Council
Grant Opportunitye, National Organization for Rare Disorders (NORD)
Published Paper Addresses Pyrimethamine

In this issue:

NTSAD has maintained a strong commitment to funding research over the years to advance its mission to lead the fight to treat and cure Tay-Sachs, GM-1, Sandhoff, Canavan, and other related genetic diseases.

This year NTSAD is pleased to announce the 2015 Research Initiative Grants totaling $266,000 thanks to many generous research supporters.

A Summary of the NTSAD Science Symposium & Workshop for Professionals
Allison Bradbury, PhD, Diane Golebiowski
and Staci Kallish, DO, co-editors

• Common Elements of the Pathogenesis of Neurodegenerative diseases
• Clinical trial design and outcome measures for diseases affecting the CNS: FDA perspective
• Specific issues relating to the gangliosidoses
• Specific issues in the leukodystrophies
• Small Molecule Approaches
• Gene therapy: current status and future
• Newborn  Screening : What is the role of NBS in developing therapies for pediatric neuro-degenerative diseases?
• NTSAD's diseases: What are the outstanding issues in clinical trial readiness?

Highlights from Roundtable Discussions at NTSAD's 2015 Annual Family Conference Research Session

• What's New in Carrier Screening
• NTSAD-funded project: "Lectin-assisted transnasal delivery of corrective enzyme for GM1 gangliosidosis"
• Gene Therapy: Tay-Sachs Gene Therapy Consortium (NTSAD-funded) and GM1 Gene Therapy
• The Importance of Natural History Studies, Registries, and Clinical Outcome Measures

This issue reviews Biomarkers.

IT'S ALL ABOUT THE BIOMARKERS
Allison Bradbury, PhD and Staci Kallish, DO, Co-editors

This issue of NTSAD Research Review shares:

Highlights from the Lysosomal Disease Network (LDN) 11th Annual WORLD meeting in Florida. Staci Kallish summarized talks about natural history studies, substrate reduction therapy, modifying enzymes, biomarker studies, enzyme replacement therapy and a new technology for enzyme delivery.

Announcement Lysogene's strategic collaboration with University of Massachusetts Medical School and Auburn University to develop the pre-clinical studies need to bring gene therapy for GM1 to clinical trial.

This issue of NTSAD's "Research Review" contains information on:

A progress report summary for Milestone II in the Tay-Sachs Gene Therapy Consortium research;

An introduction to NTSAD's Scientific Advisory Committee's Subcommittee on Therapies with the issue of Paper #1 on Substrate Reduction Therapies

This issue of NTSAD's "Research Review" looks back at 2014's news and updates in research, as well as looking ahead to 2015.

This issue of NTSAD's "Research Review" contains information on:

Dr. Gerhard Bauer's work on a combined treatment approach using stems cells and gene therapy at U.C. Davis;

Information regarding the link between Niemann Pick Type C and the Ebola virus;

Other updates on NTSAD's two-year grant to BioStrategies and their work to develop a therapy for GM1, and an update on the Jacob Sheep at Auburn University.

This issue of NTSAD's "Research Review" contains information on:

The summary of results for Dr. D'Azzo's two-year research project on the commonalities between sialidosis and Alzheimer's disease. This study allows a better understanding of lysosomal function which may be useful in understanding on lysosomal storage disorders.

This issue of NTSAD's "Research Review" contains information on:

The Fourth Annual Day of Hope benefiting research;

An explanation of the NTSAD Research Initiative and the importance of Natural History Studies;

Summaries of natural history studies conducted.

This issue of NTSAD's "Research Review" contains a summary of a three year completed study of Jacob Sheep at Auburn University.

This issue of NTSAD's "Research Review" introduces the GM2 Clinical Research Network and its purpose moving forward.

NTSAD's orphan drug designation request for
a Tay-Sachs gene therapy treatment has been
granted by the U.S. Food and Drug Administration
(FDA).

Tay-Sachs Sheep HOPE for a Cure
Doug Martin, PhD, Auburn University, received Research
Initiative Grants from NTSAD to characterize natural disease
progression in the Tay-Sachs sheep model and therapeutic
benefits of gene therapy in Tay-Sachs sheep.

The Tay-Sachs GeneTherapy Consortium (TSGT) has been working
hard to unravel the mystery of an adverse neurological response in
non-affected primates during the pre-clinical studies.

This study is an important step toward a
testing method that detects all carriers
regardless of heritage without the technical
limitations of enzyme assay.

Maria Traka, PhD, Research Associate at the
University of Chicago, received a Research
Initiative Grant from NTSAD to develop an
in vitro (in the lab) approach to identify
molecular pathways of Canavan Disease