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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.
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.
The CTSF has issued $1,301,972(as of 2/2/16) 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 2017. The project is in the final stages of research - it has worked in small animal models and large animal models. The team is currently doing testing to understand the impact the vectors might have on a human brain.
Gene Therapy in the News: The Boston College Chronicle has an article in its February 14, 2008 Edition on Page 4 about the Tay-Sachs Gene Therapy Consortium.
This therapy approach comes at Tay-Sachs from the waste-creating (GM2) side. The theory is if we can reduce the amount of GM2 being produced, we can slow the progression of the disease. In Tay-Sachs patients with some Hex-A present, it might be possible to balance the waste created with the capacity of the Hex-A to break it down. The result would be no excess waste is created in a brain cell balance! A recent clinical trial (Zavesca) in this area created mixed results. The CTSF is beginning to test a new Inhibitor at Boston College in 2016.
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.
While some Tay-Sachs sufferers do create Hex A it is mutated and brain cells cannot absorb it. Pharmaceutical companies are developing molecules that can attach to mutated enzymes (sort of like adapters) to help them become absorbed into the lysosomal storage area of a cell. Once inside the cell the chaperone is discarded and the enzyme is able to eliminate waste product. A PYR clinical trial was conducted in 2009 and the results where unimpressive. There is a continuing search for approved compounds that might perform better.
There are basically four types of stem cells: embryonic (very controversial), adult, progenitor, and totipotent. These cells have the potential to create any number of cells in the body (i.e. brain, blood, heart, etc.). The theory is that stem cells can either replace damage or dead cells or be genetically modified to produce whatever the body needs like Hex-A genes.
Enzymes (Hex-A for TSD) produced in a laboratory setting are administered to subsidize or replace the missing enzymes. This technique has proven effective in some LSDs but has not been useful to date treating LSDs with neurological involvement. The laboratory enzymes face the same problems stem cells and cord blood cells do: crossing the blood brain barrier.
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