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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Clinical Trials: What You Need to Know

2020 will be a pivotal year as we prepare for a number of clinical trials to be open for enrollment for Canavan, GM1 Gangliosidosis, GM2 Sandhoff and Tay-Sachs in each of their forms. As more is learned about each trial, questions inevitably arise and below are answers to a few of them. 

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. There are several ways you can contribute to the data. Below is a video of the Canavan Natural History Study that explains it well. Another natural history study for infantile and juvenile GM1 has opened with the details in the sidebar to the right. Another is the Patient Insights Network (PIN) - 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!

Canavan Foundation 2 from Aspa Therapeutics on Vimeo.

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.