Join Our Research

Register with Simons Searchlight and Join Our MEF2C Study at Boston Children’s Hospital

 

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

To take a treatment to clinical trials, it is essential that we first collect baseline health data from our patients in order to accurately measure how people are doing without an intervention. By registering for Simons Searchlight, you can ensure that your loved one with a pathogenic MEF2C variant is part of this effort.

In order to take advantage of new therapeutic developments we need your support to create a robust patient history database. By inputting this essential data into Simons Searchlight, you can help scientists and clinicians to take treatments to clinical trials, and ensure our community is elevated and prioritized by researchers.

How it works

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. Study participation is available in German, Italian, Portuguese, English, Dutch, French, and Spanish. We are committed to making research participation more accessible to families around the world. Please spread the word!

It’s absolutely free to register and submit your samples.

The process, step by step

  1. Upload your reports.

    When you 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.

  2. Submit surveys

    Once the preliminary data is 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. The Annual Medical History Survey has recently been updated making long-term participation easier and more impactful! It now offers a broader range of conditions, symptom severity, and treatment effectiveness which build on previous responses year over year. This enhancement saves time while ensuring researchers receive high-quality data.

  3. Free blood draw

    You can submit your blood samples to Simons Searchlight at no cost to you. The team will provide detailed instructions and you can complete the draw at your local testing lab.

  4. Check your dashboard

    Check your dashboard for new tasks that have been assigned to you. The information provided by completing these tasks will provide researchers with the information they need to better understand your patient.

  5. Forward Assessments from Early Intervention, Therapists and School

    PT, OT, Speech and behavioral assessments received from early intervention and school contain some great details that can help researchers to better understand our patients. Please submit evaluations directly to coordinator@simonssearchlight.org.

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 assist in the creation of 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!

The creation of a robust natural history and solid assessment standards

In order to take drugs / new therapies to clinical trial with our patients we will need to have ways to assess the effects of the drug / therapy on our patients during a clinical trial.

This is a very important step in getting any new drugs / therapies approved for clinical trial. The research provided by in person patient research assessments will facilitate clinical trial design and the ability to conduct effective clinical trials. This is a very important piece of the puzzle. We need your help to advocate to make this happen. The Lab of Dr. Chung at Boston Children’s Hospital has assembled a great team. They have created solid assessment standards and are analyzing data from the first round of in-person patient research assessments in October 2024.

The MEF2C Focused Study at Boston Children’s Hospital

The first round of MEF2C patient research assessments was performed in October 2024. The next round is scheduled for January 15th & 16th, 2026. The second round will confirm findings from October and assess any changes. We hope to have the opportunity to evaluate patients assessed in October 2024, so we have as much data as possible on each patient; and we are accepting new patients who were unable to attend the first round of research assessments last October.

Basic Details on Assessments:

1) An EEG specialist will perform a baseline EEG in resting state. The purpose is to summarize patterns amongst individuals. The purpose of the EEG is not to measure seizure activity, and a copy will not be provided to patient families.

2) Physical Therapists, specializing in profound neurodevelopment disorders will assess and record changes in motor skill development, to carefully define details on fine and gross motor skills, and gait patterns. This will include hypotonia, hypertonia, gait, range of motion and use of orthotics. Preliminary findings will be provided to patient advocates.

3) Child psychologists specializing in profound neurodevelopment disorders will assess cognition, evaluate focus, sensory seeking / self-stimulatory behaviors, levels of communication, targeted verbalizations and use of communication. There will be additional assessments in this category to provide a deeper dive into relevant symptoms.

4) Simons Searchlight, will perform blood draws to evaluate how blood markers change over time, and potentially to provide samples to requesting scientists. Simons Searchlight has already collected a significant amount of MEF2C patient blood samples at the research conference in October 2024. We are waiting for them to confirm if more blood is needed and will let you know as soon as possible.

Research assessments are generally scheduled for each patient on one day. The amount of time spent on assessments should not exceed 1/2 of a day, and breaks will be provided for down time, meals and snacks. The schedule will be created and managed by the Chung Lab team, and we will provide a link for you to connect directly with their team to ask any questions you may have, and to start the scheduling process.

Please feel free to reach out to the US MEF2C Foundation with any questions or concerns on the in-person patient research assessments, how the data from Simons Searchlight surveys is used, and the MEF2C Natural History Study in progress with the Lab of Dr. Wendy Chung, Chief of Pediatrics, Boston Children’s Hospital, Mary Ellen Avery Professor at Harvard Medical School and President of the Children’s Hospital Pediatric Associates.