Natural History Database
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 firstname.lastname@example.org
To create an account and join the Patient Registry, please follow the link below:Noonan Syndrome Foundation Patient Registry
Projects & Opportunities
The Noonan Syndrome Foundation's goal is to advoate 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.
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.
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 email@example.com for details.
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 firstname.lastname@example.org.
Need Help Getting Participants For Your Study or Trial?Contact us and we will help you get the word out.
BEHAVIOR IN GENETIC SYNDROMES OF THE RAS-MAPK PATHWAY
Parents of children and adolescents with Noonan syndrome (NS) between the ages of 6 and 18 are invited to participate in a new research study! If you are willing to chat with Dr. Pierpont regarding this new research, please contact her to set up an appointment!
- Dr. Rene Pierpont University of Minnesota Medical Center email@example.com
The study is entitled “Behavior in genetic syndromes of the RAS-MAPK pathway.” The purpose of the study is to characterize behavioral challenges in individuals with RASopathies, and to understand how behavior may be related to genetic and medical aspects of NS. As part of the study we will be looking at the relationship between behavior and the sensory processing concerns that affect many children. We will also be examining the impact that medical and behavioral aspects of NS have on parenting and family life.
Study participants will be asked to complete a set of questionnaires that inquire about their family background, their child’s behavior, their child’s sensory processing, and their parenting experience related to their child’s medical challenges. Families will also be asked to sign a release of information form so that the researchers can request records to confirm the child’s diagnosis of a RASopathies as well as genetic testing related to that diagnosis. Completing the study questionnaires and forms will take approximately one hour of your time. You will receive a $10 gift card upon completion of the study (from Amazon.com, Panera Bread, or Barnes & Noble) to thank you for your time and efforts.
Families who will be attending the 2013 family conference in Orlando, FL will have an opportunity to participate in this study. The researchers will meet with parents of children with NS at the conference during one-hour time slots that can be scheduled at a convenient time. In order to reserve a slot to participate during the family conference, please contact Dr. Rene Pierpont at: firstname.lastname@example.org.
The study is being conducted by Dr. Rene Pierpont of the University of Minnesota, Dr. Melinda Wolford of Youngstown State University, and Dr. Amy Roberts of Boston Children’s Hospital.
PATIENTS WITH GHD TS NS SGA A-GHD AND CAREGIVERS STUDY
Elliott Benson Research in San Francisco, Dallas by Definition in Dallas, Group Dynamics in Philadelphia and Taylor Research in San Diego are currently seeking the opinions of patients / caregivers with any of the following conditions:
- Children Diagnosed with:
- Growth Hormone Deficiency (GHD)
- Turner Syndrome (TS)
- Noonan Syndrome (NS)
- Small for Gestational Age (SGA)
- Adults who are currently diagnosed with Growth Hormone Deficiency (A-GHD)
- Caregivers/parents for any of the above
The purpose of this research is to obtain your feedback on the design of a new pen-injector and the instructional materials. No injections or medication will be given during the research session; this is strictly an observational research project, and all responses will be kept confidential.
Qualified participants will receive a total stipend of $250.00. This study will take place over 2 days, 1 hour each day.
If you or someone you know fits this description and lives in the San Francisco, Dallas, Philadelphia or the San Diego area, please call us at:
- Elliott Benson San Francisco, CA (916) 325-1670
- Dallas by Definition Dallas, TX Jessie @ 1-800-336-1417
- Group Dynamics Philadelphia, PA Alice @ (610) 822-1010
- Taylor Research San Diego, CA Ben @ (858) 810-8400 x 203
Pre-screening and verification of diagnosis is required in order to participate in this research session.
Harvard Medical School Department of Continuing Education offers an online course for physicians on Noonan Syndrome.http://cmeonline.med.harvard.edu/info/noonan/