Developing a cure or treatment is a long, complicated and expensive process. This page will give you a basic understanding of the process. The NTSAD Scientific Advisory Committee closely monitors the scientific field and alerts NTSAD Families of important breakthroughs and developments.

Basic Research

Before scientists can attempt to treat disease they must understand the exact cause of the disease. How are cells damaged by the missing enzyme? What are the biochemical pathways leading to disease? Basic research is often called “the how does that work?” stage.

Pre-Clinical Development

Translational Research

The next step is to take the basic understanding of the disease and try to intervene to slow, stop or reverse the symptoms. Often these studies start in a culture dish but eventually almost always result in animal model studies. Sandhoff mice are the most commonly used Tay-Sachs and Sandhoff animal model. Both mouse and rat models are commonly used to study Canavan disease. Affected mice are given potential treatments and closely monitored for improvements. If the mice show positive results, studies in larger animals such as cats and sheep are done because their brains are closer in size to humans.

Regulatory Approval Process

After a potential therapy has been thoroughly demonstrated to alleviate disease in the animal models the regulatory phase of preclinical developments begins. Clinical trials must be reviewed and allowed to proceed by the Food and Drug Administration (FDA). This can be a lengthy and complicated process in itself. The steps in FDA clinical trial approval include:

• Pre-IND meetings with FDA
• Toxicology studies in animals
• Producing the treatment (e.g. vector) using Good Manufacturing Practices
• Investigational Drug Application (IND)

In addition to FDA review of the clinical trial IND, the researchers must also receive approval from the Institutional Review Board (IRB) of all clinical trials sites.  Also review and public discussion of the clinical trial protocol by the NIH Recombinant DNA Advisory Committee (RAC) may be necessary.

Clinical Trials

Clinical trials are typically done in three phases. However, when looking at treatments for very rare diseases like Tay-Sachs and other related diseases, the phases are often modified and blended together. Phase I typically looks at safety, Phase II looks at efficacy and safety, and Phase III verifies the treatment is safe and effective in a larger number of clinical trial subjects.  Comprehensive natural history studies and clear biomarkers are vital to clinical trials to measure the efficacy of the treatment. The FDA approval of the product is necessary before the therapy is commercially available.