Our Priorities

Learn about the Four Key Priorities that Inform Our Research.

Our goal is to find effective treatments and—ultimately—a cure for Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases.

To achieve this goal, NTSAD formed a Research Task Force comprised of members from our Scientific Advisory Council (SAC) and other experts in lysosomal and leukodystrophyA group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath that insulates nerve cells. Myelin is commonly referred to as the brain's "white matter", myelin covers nerve cells and ensures the clear transmission of nerve impulses from one part of the body to another. These disorders are progressive, meaning that they tend to get worse throughout the life of the patient. The word leukodystrophy comes from the Greek words leuko (meaning white), trophy (meaning growth), and dys (meaning ill). If you put these words together, the word leukodystrophy describes a set of diseases that affect the growth or maintenance of the white matter (myelin). More disorders. Together, they identified four key research areas on which to focus. These are the pillars of our research priorities.

Basic Science & Translational Research

Basic science aims to understand disease mechanisms and pathophysiology. Translational research then applies those insights and attempts to modify the disease course.

Clinical Development

Clinical tools support future trials across the severity spectrum of any given indication. This may include developing severity scales for disease staging, translational biomarkersA measurable substance in an organism whose presence is indicative of some phenomenon such as disease, infection, or environmental exposure. More with clinical utility, or measurable and clinically meaningful efficacy endpoints for clinical trials.

Early Symptomatic Diagnosis

Early diagnosis is important to maximize intervention and treatment outcomes. Often, there are delays in reaching the correct diagnosis from the time of symptom onset. Genetic testing is the primary way that a definitive diagnosis is made. NTSAD’s support of carrier screening and leadership of our newborn screening consortium are examples of our efforts to promote early diagnosis.

Newborn Screening

NTSAD supports newborn screening efforts by providing funds; educating families, clinicians, and researchers; building and sharing resources; and connecting stakeholders. We established a Newborn Screening Consortium (NBS), which includes expert clinicians and researchers as well as industry representatives. In 2021, NTSAD and industry members of the NBS supported the development of critical assays for newborn screening so that when treatments are approved, they may be included on the Recommended Uniformed Screening Panel (RUSP).

Clinical Trials: A Patient Advocate on Balancing Hope and Expectations in Clinical Trials

Courageous Parents Network has a guided pathway about clinical trials with helpful videos addressing what to expect, and how to navigate and process whether a trial is a fit for your family or not.

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