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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

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GM2, GM1 Gene Therapy Programs Licensed

Last month we shared the exciting news from UMass Medical School (UMMS) about a significant grant that they received to advance the work of the Tay-Sachs Gene Therapy Consortium (TSGT).

There is another significant announcement that Axovant Sciences, Inc. announced they are licensing the GM1 and GM2 gene therapy programs from UMMS. 

Read Axovant’s press release here

Why is this fantastic news? 

Axovant has the expertise, experience, and financial resources to partner with UMMS and NIH to implement the clinical trials, work with the regulatory authorities, and hopefully, if successful, make the gene therapy available more broadly.

We are thrilled to learn that Axovant will lead the development for the GM2 and GM1 gene therapy programs. NTSAD looks forward to helping them move forward as the leading patient advocacy group for Tay-Sachs, Sandhoff and GM1 diseases.

We want to acknowledge the significant role of the Cure Tay-Sachs Foundation as an equal funding partner along with NTSAD over the years, and the Blu Genes Foundation for their most recent major gift to the UMass Medical School gene therapy research.

We particularly want to acknowledge the work of Doug Martin, PhD, of Auburn University, who worked closely with Miguel Sena-Esteves, PhD, Heather Gray Edwards, PhD, and the team at UMass Medical School. The research results in the animal models, which Doug led at Auburn, provided essential validation of the results for these gene therapy programs.

We are grateful for everyone's passion and commitment over the last 11 years. It takes a village - a mighty and rare community to move mountains. And we're almost there.

Since 2007, over $2 million of Research Initiative gifts we've received from you have gone to fund the work of the Tay-Sachs Gene Therapy Consortium (Miguel Sena-Esteves, PhD, Doug Martin, PhD, Heather Gray-Edwards, PhD, Florian Eichler, MD, Professor Tim Cox and Tom Seyfried, PhD).

There have been an additional $800,000 in grants awarded to other investigators for relevant grants in related gene therapy, biomarker, and natural history studies in all of our diseases. 

NTSAD grants that have supported gene therapy include: 

* animal studies from mice to cats to Jacob Sheep 

* the care for the herd of Jacob Sheep 

* gene therapy vector development and subsequent validation studies 

* biomarker research 

* natural history studies 

* pilot assay for Tay-Sachs newborn screening 

* toxicology and efficacy studies 

Each step of progress is a step for all the families and every one is tied to the everlasting legacies of all the children and adults who are no longer with us.

 

2018 Research Initiative Grants

NTSAD is proud to make three grant awards to the talented investigators and their institutions. Information about their grants is described below. This year’s grants are for Sandhoff/Tay-Sachs and GM-1 diseases, our goal is to advance research towards treatments for all of our diseases.


Alessandra D'Azzo, PhD
St. Jude's Children's Research Hospital

Role of Plasma membrane-ER Contact Sites in 
GM1-mediated Neuronal Cell Death

GM1-gangliosidosis is a neurodegenerative lysosomal storage disorder that presents with a spectrum of severity. It is caused by genetic mutations in the B-Gal gene that affect the expression and/or function of the B-Gal enzyme, leading to impaired degradation of one of its major target substrates, GM1-ganglioside (GM1). GM1 is particularly abundant in the nervous system, because it is a major component of neuronal outer membranes. Thus, the direct consequence of B-Gal deficiency is the relentless and progressive accumulation of GM1 in lysosomes and other subcellular membranes, which leads to the death of neurons, neuroinflammation and neurodegeneration. A deep understanding of the cellular and molecular events downstream of B-Gal loss of function and GM1 accumulation may give us the chance to identify alternative ways to tackle the disease therapeutically or provide us with appropriate end points to assess the extent of functional reversal of phenotypic abnormalities after treatment. 

With these studies we plan to evaluate in the mouse model of GM1-gangliosidosis how GM1 accumulation affects the membrane contact sites formed between cellular components and the neuronal outer membranes. In particular, we will analyze the protein and lipid components of these membrane contact sites in order to assess whether they are altered by abnormal local concentrations of calcium ions caused by the accumulated GM1. This will help us to understand the role of calcium and calcium-binding proteins at these contact sites in causing the damage to neurons. We will perform therapeutic proof of principle studies aimed to inhibit the function of a specific calcium-binding protein, which, if successful, may set the foundation for a novel therapeutic approach for the treatment of
this lysosomal disease in children.


Tony Futerman, PhD
Weizmann Institute of Science (Israel)

Role of microglia in Sandhoff disease pathology


Microglia are inflammatory cells found in the central nervous system. They are known to play a role in the pathophysiology of Sandhoff disease but the inflammatory pathways activated are not known. This study aims to better understand these pathways to delineate potential targets for therapeutic intervention in Sandhoff and Tay-Sachs diseases.

This lab has a record of success identifying pathways that might be amenable to therapeutic intervention in other lysosomal storage diseases.


Xuntian Jiang,PhD
Washington University School of Medicine (St. Louis, MO)

Oligosaccharide Biomarkers for Disease Progression and AAV Therapeutic Efficacy in GM1 Gangliosidosis

A major challenge for developing treatments for GM1 gangliosidosis (GM1) disease is difficulty in evaluation of efficacy. This is complicated by limited patient numbers, and variability in age, severity, and stage of disease progression. Biomarkers that reflect disease status could provide a valuable surrogate endpoint for assessment of treatment effect and reasonably predict clinical benefit. We have identified an oligosaccharide  (carbohydrate whose molecule is composed of a relatively small number of monosaccharides) biomarker that is significantly elevated in the urine, cerebrospinal fluid (CSF) and plasma from GM1 patients and brains from GM1 cat model. This biomarker in GM1 cat brains was reduced in response to gene therapy. These results suggest that the oligosaccharide is a sensitive biomarker for disease severity and progression and for assessing treatment efficacy. In this proposal, we will identify the structure of the oligosaccharide biomarker and evaluate this marker as a surrogate outcome measure of treatment for GM1. This project will provide a much-needed tool for assessing GM1 disease severity and therapeutic efficacy.


 

GM2, GM1 and Canavan Patient Insights Networks (PIN)

Your experience matters in the quest to find treatments! ​

Your input is important! ​

Whether your child has (or had) the infantile or juvenile forms of Tay-Sachs, Sandhoff, GM1 or Canavan, or if you are affected by the Late Onset form, your participation is critical. We ask for you to share as much information as possible.​

Privacy is of the utmost importance; therefore, your information will remain private and de-identified. This data will be an immensely important tool for understanding our community and will greatly impact the path of clinical trial readiness. The FDA looks for as much of this data as possible as they consider approving clinical trials.​

Join the global community and share your experiences that are vital to the advancement of research toward effective and safe treatments.​

REGISTER with the PIN

We hope you take some time to share your or your child's patient experience. It may seem overwhelming at first, but you should be able to move through it quickly and at your own pace.

You can fill the PIN out as much as you can, save it, go back to it when you have time and finish it, so it doesn't need to be all done at once.

Why do it? 

Understanding how the disease impacts the child physically, and the whole family emotionally and socially, is important in making the case for a potential treatment to move forward to clinical trials and beyond. All experiences are welcome - past and presentAnd for our families outside of the U.S., you are welcome to register as well. Invitae has covered all the regulations in Europe so it is safe to participate in this PIN.​ You will also be notified of upcoming and open trials and studies.

There is only one way to get this information, and that is your willingness to share.  If you have any questions, please email Diana Pangonis with NTSAD here.

How to register:​

​Step 1. Register your family or yourself on the respective PIN sites. ​

GM2 Tay-Sachs and Sandhoff here
Canavan here
GM1 here

Step 2. Fill out Survey 1 – Diagnosis information​

Step 3. Fill out Survey 2 – General Health​

Step 4. Fill out Survey 3 – Family History​

Step 5. Fill out Survey 4 – Medical Care Survey​

 

NTSAD's Annual Fund

Make a gift today
Help find a cure and support families

Your gift to the NTSAD Fund provides families and individuals the hope and support they need as they struggle every day with the realities of these diseases. Hope truly knows no boundaries with your generous support.

Please select your preference:

Donate by Credit Card or
Bank Transfer

Donate through PayPal

Donations by Mail or Phone:
(617) 277-4463
Checks payable to NTSAD
2001 Beacon Street, Suite 204
Boston, MA 02135

To set up annual recurring donations, please contact us at (617) 277-4463.

2019 Annual Family Conference

NTSAD 41st Annual Family Conference

Thursday, April 11 to
Sunday, April 14, 2019

Raleigh Marriott Crabtree Valley
4500 Marriott Dr.
Raleigh, NC 27612

Join us for three days of support, empowerment and knowledge. You will meet others who understand and the professionals who are committed to being there for all of us. We hope you can make it! 

To explore the conference and read about the sessions, visit the conference site here.

Gifts to support the conference experience can be made here.

Registration

(includes all meals from Thursday lunch to Sunday brunch)
          

Hotel Reservation

Deadline: March 20, 2019

Adult: $320 (ages 13 and up)
Child: $150 (ages 3-12)
Affected Children are free

Click here to register for the conference.

 

 

Hotel Rate: $169 (including hotel tax)

Click here to make a hotel reservation.

If you need an ADA room with a roll-in shower, please email and alert Risa Asnen This email address is being protected from spambots. You need JavaScript enabled to view it..

 

Getting to Raleigh

 

Important Deadlines

Airports

Raleigh Durham International Airport (RDU), 11 miles 
 

Transportation Options

Complimentary shuttle service upon request, Sunday-Monday
7:00am – 10:00pm (919) 781-7000

Suggest Alternate Transportation: North Hills Transportation; Reservation Required
(919) 940-1181


Estimated Cab Fare each way: $35.00
 

Travel Resources

Mercy Medical Airlift
mercymedical.org

National Patient Travel Center
patienttravel.org

Miracle Flights
miracleflights.org

 

Helping Hand Grant Applications Due
Rolling Admission until February 1, 2019 (If you've missed the deadline, contact our Conference Coordinator This email address is being protected from spambots. You need JavaScript enabled to view it., or Director of Family Services This email address is being protected from spambots. You need JavaScript enabled to view it..)

Conference Registrations Due
March 20, 2019

Hotel Reservations Due
March 20, 2019

 

 

 

 

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Reasons to Go

“For our family attending the conference is like coming ‘home’ to a family that understand and where you don’t have to explain yourself…you just get unconditional love and acceptance.”

“Attending conference changed everything for me. It’s an incredible feeling to bond with other families who understand what you are going through and are willing to hold your hand through it all..... it’s hard to sum it up.  The conference truly changed my life!”

“The support and guidance we received in the meetings was invaluable in helping us to stay on our feet, band together as a family and to continue to support her brother. There was so much comfort in knowing we were with other parents who completely understand the way we are feeling.”

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