You are not alone.

Has someone you love recently been diagnosed with a MEF2C mutation?

The US MEF2C Foundation is comprised of parents and friends of patients diagnosed with MEF2C mutations. There are approximately 400 diagnosed patients globally with MEF2C mutations, and nearly half of our patients are in the United States. We share the same journey and are committed to providing families with support, therapeutic ideas and the latest medical advancements. We are aggressively investigating and funding promising research to find treatments and a cure for all of our patients. In order for us to advocate for our entire patient community we need your support. Please help us to build a robust patient history database to include all diagnoses and clinical assessments of our patient population so that we are able to take promising treatments to clinical trial for all patients.

Advocate for your loved one by signing on to Simons Searchlight to ensure that their specific diagnosis is recognized by the scientific community.

In order to take advantage of new therapeutic developments we need your support to create a robust patient 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

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, the Simons Searchlight team can take 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.

When you sign up with Simons Searchlight, 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, they 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 to create a solid and robust natural history of our children that we can use in preparation for a clinical trial.

If you would like to speak with the Simons Searchlight team directly they can be reached via email. You can also reach out to us and we will do our best to help you.

This is a very important step in the process to better understand, investigate and develop treatment options for our children. It is our goal to have treatments ready for human clinical trials as soon as possible. We will need to have a robust natural history 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

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 to create solid assessment standards.

This is a very important step in getting 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.

In our efforts to build a robust natural history of our patients, we would like to announce our Landmark Clinical Research Assessments at Boston Children’s Hospital, scheduled for October 17 - 19, 2024.