Research Overview

Research Program Overview   

The SMA Foundation drives preclinical and clinical research through internal and external sponsored research programs and in a variety of research collaborations.  Our research aims to expand upon the basic knowledge of the disease, and to translate basic findings into clinical applications – click here for more scientific background on SMA.

Our internal research is focused on addressing gaps identified by thought leaders in the field, and is actively managed by the Foundation scientific team.  While we have no laboratory space of our own, we operate as a virtual research organization through a network of contract research organizations.  Current efforts are focused on

• Generating new mouse models of SMA, and making them widely available for use in basic and translational research
• Conducting in vivo drug tests in SMA mouse models
• Following up on drug leads in terms of safety and feasibility
• Clinical studies to identify new candidate biomarkers for SMA, and validating those biomarkers in independent tests
• Developing a kit for measuring SMN protein levels in patient clinical samples, and ensuring that researchers can get access to it

Our sponsored research is focused on key basic and translational questions, with funding and broad direction from the Foundation and its Scientific Advisors.  Past and present topics have included

• What are the early cellular events in SMA disease manifestation?
• What functions of SMN are relevant to the SMA pathogenesis?
• Which cells or tissues are responsible for causing the symptoms of the disease?
• How can SMN expression be restored?  When and where is it most needed? Which SMN-upregulating approach has the best chance of success?
• What other cell and molecular targets besides SMN can be harnessed to treat SMA?
• What is the natural history of SMA, and what outcome measures can be used to detect disease progression and/or drug effect upon treatment?

A critical aspect of the Foundation’s work has been to attract biotech and pharmaceutical industry interest in SMA, in order to leverage their cumulative years of drug discovery experience, proprietary compound libraries and research tools for SMA drug development.  We now have several research collaborations with industry partners focused on bringing new drugs for SMA to the clinic.  In each of these collaborations, the Foundation provides disease-specific expertise and facilitates interactions with researchers, clinicians and the patient community.  Our relationships with Genzyme, Novartis, PTC Therapeutics, Lexicon and others are invaluable in accomplishing our mission.