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

  • 1
  • 2
  • 3

Latest News

  • 1
  • 2

The gene therapy programs for GM1 Gangliosidosis and GM2 Tay-Sachs and Sandhoff have been licensed, from University of Massachusetts Medical School (UMMS), by Axovant Sciences, Inc., and the gene therapy program for Canavan disease, also from UMMS, has been licensed by Aspa Therapeutics, a BridgeBio company.

NTSAD realizes there will be many questions regarding clinical trials in general as well as specific questions related to the trials for the diseases that impact families. If there is a question you have that has not been answered, please email Diana Pangonis, Director of Family Services, This email address is being protected from spambots. You need JavaScript enabled to view it., and she will do her best to find an answer from the experts.

General Questions

What is a clinical trial?

In a clinical trial, participants receive specific interventions according to a research plan or protocol created by the investigators. The investigators try to determine the safety and efficacy of the intervention by measuring certain outcomes in the participants. These interventions (which include therapies) can be done to evaluate the effects of those interventions on health-related biomedical or behavioral outcomes. (https://www.clinicaltrials.gov/ct2/about-studies/learn)

How do we know if a therapy is working? What are endpoints?

Endpoints are the outcomes evaluated in a clinical study. These are determined before the study begins, often by studying the progression of the disease in patients. For example, one endpoint for a child with infantile Tay-Sachs could be the milestone of sitting up or crawling. If a child in a trial is treated and meets that milestone with success, then it shows the therapy may be working. This is why participating in the PIN and natural history studies is important and critical.

Why are natural history studies and the Patient Insights Networks (PIN) important to clinical trials?

Natural history studies document the progression of the disease. The more data there is about the progression of the disease from medical data and patient experience, the clearer the endpoints are to determine whether a therapy is working or not. The PIN is a format to help families contribute this information. Therefore, participating in the PIN and natural history studies is important and critical.

Join the GM2 Tay-Sachs & Sandhoff PIN here or
the GM1 PIN here as soon as you can!

How is it decided who can be in the trial?

The inclusion standards are set before a clinical trial begins during the trial design, and candidates must meet those standards in order to be considered for participating in a trial. Because these diseases are rare, the number of eligible participants is limited for the first phase of this first-in-human clinical trial.

Why do patients have to meet certain criteria to be accepted into the trial?

Inclusion criteria are necessary for a successful clinical trial. Inclusion criteria also help minimize risk in a clinical trial and ensure the proposed therapy is safe and effective. Having a successful trial in which risks are minimized and success of the therapy can be shown is important to allow therapies to continue in future trials and to lead to eventual approval.

What does Phase I/II mean?

Phase I typically looks at the safety and dosage of the proposed therapy, and Phase II focuses on the efficacy (benefits, effectiveness, does it help) and potential side effects. However, with rare diseases, where there are a limited number of potential candidates, the FDA will often allow the combination of phase I & II which can use fewer patients and may answer the research questions more quickly.

Funding Late Onset Tay-Sachs Research

My name is Vera Pesotchinsky and I was diagnosed with Late Onset Tay Sachs in 2000, after 8 years of being misdiagnosed. I have an MBA from Santa Clara University and a BA degree from Wellesley College with a double major in economics and Russian Area Studies. I was always told that my physical and speech difficulties were “psychiatric” in origin. Even when I began to stutter in high school and college, nobody recommended that I go to a neurologist and I was repeatedly sent to psychiatrists instead! When I eventually had my first abnormal MRI in 1996, it became clear that what I had was neurological, but all diagnoses that I was given were incorrect. Further testing was inconclusive, and to be quite honest, the doctors showed little interest or curiosity in digging further.

So as my health deteriorated, I continued with my life and made adjustments as necessary. I had always been quite clumsy, but never suspected there could be a medical reason for it. That was just the way I was, and I assumed that to some degree, everyone had the same difficulties that I did. After all, I do not know anything else and have nothing to compare it to. In high school, I ran cross-country, but every year, I seemed to get slower. In the last couple years of school, I began to fall. The last time I remember being able to run at all, I was 18 years old and a freshman in college. But I could live my life without running. Then, I had difficulty walking up and down stairs. So I slowly had to make adjustments, but I just did the best I could with what I had. When I finally got the LOTS diagnosis, it was actually somewhat of a relief because all of my difficulties finally began to make sense!

Even with the LOTS diagnosis, I was determined to not let it interfere with my life. I finished my graduate degree, worked, lived on my own, drove a car, and spent time with my friends. But despite my not wanting to admit this, I am slowly getting worse. I began to use a walker about 5 years ago, and I currently use a wheelchair outside the house in the evenings, or in unfamiliar environments. Even with the walker, I fall quite often, and several of my falls have resulted in broken bones. About 2 years ago, I had to give up driving and move back to my parents’ house. So at 42, I have had to give up a lot of my independence and rely on my parents more than I would like. I am having challenges now in my 40s that many people don’t experience until their 80s or 90s, or never at all.

There is no cure. 

There is currently no cure for Tay Sachs, in its infantile, juvenile, or adult onset forms, nor for many other more common neurological diseases. My mother is very involved in research and I know that a lot has been done in the last 15 years in order to find a treatment, and research is moving forward. Being diagnosed today is quite different than it was 15 years ago, and despite the fact that there are few patients, there is progress being made. I am very grateful to researchers that have devoted their time and talent to find a treatment for this rare disease. I am also thankful to all the parents and friends that have helped to finance research up to this point. Although Tay-Sachs is very rare, we know that if a cure is found for Tay-Sachs, it would help to find cures for other neurological diseases.

Unfortunately, nothing can be done without money, and we need funds to continue research, to satisfy FDA requirements, and to conduct clinical studies. We cannot stop now as some of the technologies that are being developed have real promise.

So please help and contribute what you can to give hope to both myself and all those struggling with genetic neurological diseases. I appreciate and am grateful for your support.


Thank you

Vera

Donate by Credit Card or Bank Transfer

Donate with PayPal

Donate by Mail

Checks payable to "NTSAD" may be mailed to:
NTSAD
c/o Vera's Research Fund
2001 Beacon St, Suite 204
Boston MA 02135

NTSAD In The News

NTSAD In The News

Huffington Post - "Two Research Grants Approved to Help Late Onset Tay Sachs"Published: June 2015

Boston Business Journal - 'This disease takes away everything': One family's story of Tay-Sachs
Published: February 27, 2015. The first clue that something might be wrong with Cameron was, oddly enough, a diagnosis of Tay-Sachs disease in her cousin.

Boston Business Journal - With the help of patient groups, biotechs hone in on rare diseases
Published: February 26, 2015. Shire Pharmaceuticals made its name developing drugs for osteoporosis, Alzheimer's disease and attention deficit hyperactivity disorder, but its future lies firmly in treatments for rare diseases.

 

Enter your email to receive NTSAD's Topic of the Week or quarterly news.


Login