Research

Patient Registry

A “patient registry”, or “natural history database”, is a database that collects information, and then uses complex algorithms to compute data and find commonalities. The Noonan Syndrome Foundation is excited to announce that the launch of a web-based NS Patient Registry went "live" in August 2015. We have partnered with Patient Crossroads to be able to bring the registry to our community. The registry is for anyone who has Noonan syndrome or Noonan syndrome with Multiple Lentigines AKA Leopard syndrome.

We are incredibly excited about the possibilities that this registry holds and believe that it will help us fulfill our mission to support, educate and advocate for those with NS. The database will serve as a resource of information to researchers seeking to better understand how NS affects persons at different times in their lives.

For more information, please contact us at info@teamnoonan.org

To create an account and join the Patient Registry, please follow the link: NSF Patient Registry

Projects & Opportunities

Research Strategy

The Noonan Syndrome Foundation's goal is to advocate for effective research and medical treatments for individuals living with Noonan Syndrome. The Foundation serves as a conduit between the medical community and the families for research and survey purposes; to ensure that they can keep the research on Noonan Syndrome as updated as possible. We want to ensure that research articles are also available to medical professionals, therapists, schools and most importantly the families to help better understand the different aspects of Noonan Syndrome.

Need Help Getting Participants For Your Study or Trial? Contact us and we will help you get the word out.

Phone: 866-875-8928
FAX: 866-875-1258
Email us at info@teamnoonan.org

Industry Opportunities

We want to work closely with you at every stage of NS therapeutic development to advance the most promising ideas for breakthrough treatments. Please contact us at: info@teamnoonan.org for details.

Novel Partnerships

The Foundation enthusiastically partners with companies that wish to benefit from our extensive network and expertise. Contact us if you have an idea for how your organization can support our efforts at: info@teamnoonan.org.

Current Work

Bleeding Guidelines

The Foundation is working to help create Bleeding Guidelines for the Noonan syndrome community. As you know, for some people with Noonan syndrome, bleeding issues can be life threatening. Also, many of our children will have a procedure or surgery within their first few months of life. When it comes to the Noonan syndrome community, it is imperative that doctors follow specific guidelines and check for bleeding issues before performing any procedure and/or surgery. The guidelines that are being created will help this effort.

Current Research Studies
Stanford School of Medicine

We are looking for children from ages 5 to 13 with Noonan syndrome for a neuroimaging research study investigating the relationship between the brain and behavior. Study visits typically consist of one day at Stanford University and a second day for online assessments.

Participation involves:

• Cognitive and behavioral evaluations

• Brief MRI scan of the brain

• Saliva sample collection

Scans are safe, non-invasive, and do not involve X-rays. They are primarily used to look at the structures of the brain. However, because MRIs involve magnets, we generally cannot include anyone with metal in their bodies, such as braces or other metal implants.

Potential benefits of participating:

• Information from research behavioral and cognitive assessments, with a research report of the assessment results

• Ground transportation and meal costs covered for the participating child and one care-giver/parent

Compensation:

Participants can earn $100 upon completion of all components of the study. For more information, contact study coordinators at bridgelab@stanford.edu. For general information about participant rights, please contact the Stanford IRB at 1-866-680-2906.

https://web.stanford.edu/group/bridgelab/project/ns_study/

National Cancer Institute

Do you or a relative have a RASopathy? We invite you to join a research study at the National Cancer Institute's Division of Cancer Epidemiology and Genetics. The purpose of the study is to understand what causes RASopathies and how we can better screen for and treat these syndromes.

This study includes RASopathy syndromes such as:

• Noonan

• Costello

• Individuals with changes in RAS pathway genes