Patient Research Assessments
Join us in Boston for patient research assessments and MEF2C Family Research Conferences!
We are excited to offer the opportunity to participate in upcoming patient research assessments at Boston Children’s Hospital. These assessments are a significant means to advancing our understanding of pathogenic variants on the MEF2C gene. We hope you will join us!
Our first round of patient research assessments took place on October 17 & 18, 2024 at Boston Children’s Hospital. Research assessments were followed by a discussion with leading scientists on MEF2C and topics relevant for our community. See agenda here.
Why participate?
In order to prepare for Clinical Trials, we have provided the opportunity for patients with pathogenic or likely pathogenic mutations on the MEF2C gene to have research assessments performed at Boston Children’s Hospital. This data collection and analysis will be used to conduct clinical trials for MEF2C, including assessments and measures used in a clinical trial. This has been accomplished through a Sponsored Research Agreement with the Lab of Wendy Chung, MD, PhD, clinical and molecular geneticist and Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School, a leader in the rare disease arena.
The study will include the coupling of longitudinal data from Simons Searchlight with data from the Research Assessments performed at Boston Children’s Hospital.
The study will also include the establishment of a process for follow-up and monitoring of MEF2C patients with pathogenic or likely pathogenic mutations.
We are coordinating closely to ensure a supportive experience for all participants. The assessments include various evaluations which are crucial in enhancing our research and understanding of MEF2C. These assessments are a very important piece of clinical trial readiness, and will help us to create the experience and data necessary for efficient clinical trials of our patients.
Your participation is not only valuable in taking treatments to clinical trial for our patients but also offers the chance to connect with specialists who are deeply committed to improving care for our patients.
Please let us know if you are interested in participating or if you have any questions. Email us and we’ll help you get involved:
Hear from Wendy Chung, M.D., Ph.D., clinical and molecular geneticist, chief of the Department of Pediatrics at Boston Children’s Hospital and professor at Harvard Medical School, about the importance of this research.
More on Patient Research Assessments
Patient research assessments are an important part of effective healthcare for individuals with rare diseases, helping to guide treatment and ongoing management.
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Patient research assessments include evaluations which are crucial in enhancing our research and understanding of MEF2C. These assessments are a very important piece of clinical trial readiness, and will help us to create the experience and data necessary for efficient clinical trials.
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Patient research assessments help track the progression of symptoms over time. This is particularly important for rare diseases, which often have variable and unpredictable courses.
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Due to the low prevalence of each specific rare disease, standardized treatment protocols may not exist, or they may be less effective. Patient research assessments provide detailed information on an individual’s specific symptoms and disease manifestations,.
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Patient research assessments provide data that can be used to better understand rare diseases. This information is crucial for developing new treatments and can contribute to medical advances that benefit the broader community of patients with the same or similar conditions.
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Patient research assessments include various evaluations which are crucial in enhancing our research and understanding of MEF2C. These assessments are a very important piece of clinical trial readiness, and will help us to create the experience and data necessary for efficient clinical trials.
