Join our research. We need your participation to find treatments and a cure.

In order to take advantage of new therapeutic developments we need your support to create a robust natural history database. Without this database, scientists and clinicians will not be able to take treatments to clinical trial and our community is less likely to be acknowledged and prioritized by researchers. We have decided to use Simons Searchlight to help us create this database. Simons Searchlight is a research registry that works with families and researchers around the world to help speed up research on rare genetic neurodevelopmental disorders. By collecting detailed information and blood samples, Simons Searchlight takes a deep dive into these disorders. They share the information and blood samples (without disclosing the identity of patients) with leading geneticists and scientists around the world to improve the lives of people living with rare genetic neurodevelopmental disorders.

Please visit www.simonssearchlight.org and sign up. You will be asked to provide general details about you and your family and you will be asked to upload your genetic test results, if you have them. If you do not have the results, Simons Searchlight can help you obtain them, or with your permission obtain them on your behalf. Once received and reviewed, the Simons Searchlight team will send a link(s) to complete surveys. These surveys, along with the genetic test results, will help clinicians at Simons Searchlight create a solid and robust Natural History of our children that we can use in preparation for clinical trial. If you have any questions or would like to clarify anything with regards to the process there are some useful links below. If you would like to speak with Simons Searchlight directly they can be reached via email at coordinator@simonssearchlight.org. You can also reach out to us at info@usmef2cfoundation.org and we will do our best to help you.

This is a very important step in the process to better understand, investigate, and eventually develop treatment options for our children. Our goal is to target MHS treatments ready for human clinical trials within two years. We will need to have a robust Natural History in place immediately to make this a reality. We must achieve critical mass so the importance of our community is fully recognized by the scientific community. Thank you all for your support!

Learn more about Simons Searchlight:

Simons Searchlight Frequently Asked Questions

https://www.simonssearchlight.org/frequently-asked-questions/

Link for Simons Searchlight

https://www.simonssearchlight.org

The creation of a robust natural history and solid biomarkers

In order to take drugs / new therapies to clinical trial with our patients we will need to create solid biomarkers that will help to provide a realistic assessment of the effects of the drug / therapy on our patients during a clinical trial. This means that it is in our best interest to get our patients in for clinical assessments as soon as possible. We are working diligently to organize a clinical assessment of our patients. A great team has been assembled and we are already working on putting together a group of clinicians, as well as brainstorming solid assessment standards.

This is a very important step in getting any new drugs / therapies approved for clinical trial. Without the research provided by a clinical assessment we will not be able to create the biomarkers necessary to be approved for a clinical trial. This is a very important piece of the puzzle. We need your help to advocate for your patient to make this happen.