US Tax Deductible EIN: 26-0256621

- (562) 212-1071

- 2409 E. Luke Avenue Phoenix AZ 85016

US Tax Deductible EIN: 26-0256621

- (562) 212-1071

- 2409 E. Luke Avenue Phoenix AZ 85016

Research Initiatives

The goal of the Cure Tay-Sachs Foundation is to fund the Research Initiatives that show promise to provide a treatment and ultimately a cure for Tay-Sachs disease (TSD). The research concepts are generally very complicated and therefore discourage the average person from gaining a good understanding. We are going to try and bridge that gap.

Our format will introduce each concept with a summary paragraph that will contain a link to a layman's explanation of the concept. The layman explanation will be very simplified we will abandon the 20-letter words and impossible-to-read poster board presentations. We'll explain it like a Tay-Sachs sufferer's Dad might explain the concept to his friends. And then finally, we will try and link to some of the detail (complicated) research write-ups that the more curious (or experienced) people might crave.

The actual execution of this research is very complicated that is why PhDs are paid to figure it out. We don't need to understand all the science behind the research - we want to grasp the concepts. There are Scientific Advisory Boards that can evaluate the progress of the research and determine if the science is meeting expectation. These are more PhDs reviewing PhDs. All of the Research Initiatives we discuss have shown enough promise to pass a Scientific Advisory Board review. Each initiative has its pros and cons and each initiative has its passionate followers and staunch critics. No research is universally accepted as the proper course.

Before we get started, we need a basic understanding of Tay-Sachs disease if we are to understand how or why these Research Initiatives show promise. We will again oversimplify to help gain a basic understanding. Tay-Sachs sufferers have two basic problems: they don't have enough (or any) Hex-A enzyme and they end up with too much GM2 waste. Hex-A and GM2 are abbreviations we will see a lot. Hex-A is an enzyme produced in brain and nerve cells. When the enzyme is mutated (like in TSD), the cell does not recognize it and quality control mechanism within the cell will not allow the mutated enzyme to be absorbed. The Hex A's primary job is to break down waste inside a storage area in a cell. That storage area is called a lysosomal storage area and that is why Tay-Sachs is considered a Lysosomal Storage Disease (LSD).

The waste product is called GM2. It is basically a big complicated strand that is too big and long for a brain cell to deal with. The Hex-A breaks the GM2 down into little strands that can be used by the cell. When there is too-little Hex-A, the large GM2 strands begin to accumulate (like if the garbage truck never came to your house). As the waste accumulates the storage area begins to swell; it is the swelling that causes the cell to malfunction and eventually die. Different enzymes and waste products are created in different parts of the body. Hex-A and GM2 are created in brain cells that is why Tay-Sachs is primarily a neurological condition.

The less Hex-A a person has the faster waste builds up and the more severe the brain damage. Children affected by the Infantile form generally have no Hex-A, Juvenile On-Set suffers generally have little Hex-A, and finally Late On-Set victims have more Hex-A but not nearly enough to stop the progressive brain damage.

A major challenge in treating and curing Tay-Sachs is creating therapies that are able to cross the blood brain barrier. The brain is protected (as it should be) from foreign objects. Effective therapies need to be injected directly into the brain (dangerous), have the ability to cross the barrier (complicated), or somehow circumvent the barrier (difficult).

So let's look at some of the major Research Initiatives that in concept show hope for advancing the hunt for a cure.

Exciting new Treatment to be evaluated by the FDA for trial!!

The Cure Tay-Sachs Foundation is the leading private funder of Tay-Sachs research committed to finding therapies and a cure for this 100% fatal and heinous disease. Many of us know the personal heartache of losing our children. Sadly, our kids never had a chance. We have been working to change that.

I am delighted to share that a clinical trial request has been submitted to the FDA for a new, potential treatment for Tay-Sachs disease. Known as IB1001, this type of drug has been used in compassionate-use studies in Europe for many years to treat a number of neurogenerative diseases and lysosomal storage disorders like Tay-Sachs, and has been demonstrated to be very safe, well-tolerated, and most of all, effective.

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Gene Therapy

The CTSF has issued OVER THREE MILLION DOLLARS IN GRANTS AS OF 2/2/2020 in grants to support this therapy. A consortium of researchers from seven highly respected research institutions has created the Tay-Sachs Gene Therapy Consortiume. The objective is to use modified virus cells as vehicles to transport and duplicate Hex-A enzymes into the brain. The technology has shown great promise in animal models and the current research plan targets clinical trials starting in 2020/2021. The project is in the final stages of research - it has worked in small animal models and large animal models.

The work of the Tay-Sachs Gene Therapy Consortium was sold in 2019 to Axovant Sciences, a New York Company. You can follow their latest research news by going to their website at www.axovant.org. The CTSF is also funding the work of Dr. Jagdeep Walia at Queens University in Ontario, Canada. Dr. Walia is a leader in Gene Therapy research into Tay-Sachs and Sandhoff disease. You can find updates about this work on our home page. For the most current information on Tay-Sachs research and clinical trials, call us at 562-212-1071.

Cord Blood Transplants

The theory is to create healthy blood, rich in Hex-A, that can transfer the enzyme to the brain cell. In a cord blood transplant the blood in a Tay-Sachs sufferer is destroyed by chemo-therapy. The blood from a saved and unrelated umbilical cord is injected into the body. The cord blood sets up shop in the bone marrow and creates new healthy blood complete with Hex A. The challenge is getting the new blood across the blood brain barrier fast enough to stop the GM2 accumulation and brain cell death.

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Cord Blood Banking

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