Join MED13L Registries

To improve care and develop targeted treatments for MED13L Syndrome, researchers need a deeper understanding of how the condition affects individuals over time. One of the best ways to achieve this is through natural history studies.

👉 Get Started

  • Obtain your CRID (Clinical Registry ID), here.
  • Enroll in the MED13L registries to contribute your data
  • Opt-in for data sharing between platforms (if desired)
  • View and register for research opportunities
What is a Natural History Study?

A natural history study is a type of research study that examines how a disease naturally progresses over time This can be accomplished in many different ways including (but aren’t limited to) questionnaires and surveys collected over time or reviewing past medical records for trends seen among many patients with the same disorder. Keep reading to see how you can participate.

Better Together: Integration Across Platforms

The MED13L Foundation is excited to announce joint partnerships between Citizen Health, Simons Searchlight, and RARE-X. Through these partnerships, participants can consent to have their data connected between Citizen Health and Simons Searchlight, or between Citizen Health and RARE-X. With this integration, researchers will have anonymized access to structured medical data from Citizen Health, as well as medical history and patient/caregiver-reported survey data from Simons Searchlight or RARE-X. By securely and anonymously linking individual patient data across these natural history studies, researchers will gain deeper, richer, and more longitudinal data on MED13L patients, further accelerating our understanding of MED13L Syndrome. If you experience any issues with registration or have comments to share, please email info@med13l.org.

Research Opportunities

  • The MED13L Foundation is partnering with Boston Children’s Hospital’s Rosamund Stone Zander Translational Neuroscience Center to launch the MIND Study (MED13L Syndrome Investigation of Natural History and Development)—a groundbreaking three-year research initiative.

    This study will:

    • Collect clinical and developmental data from children with a confirmed MED13L diagnosis
    • Include in-person and virtual participation options
    • Help establish clinical outcome measures to support future trials
    • Provide expert interpretation of genetic results, including variants of uncertain significance (VUS)

    💡 Up to 30 families will be enrolled (20 in person, 10 virtually) per year. Neurobehavioral assessments will also be conducted at family conferences and remotely.

    If your child has a confirmed MED13L diagnosis and you’re interested in participating, please contact:

    📧 Abigail Sveden (Clinical Research Coordinator)
    📍 Boston Children’s Hospital
    ✉️ Abigail.Sveden@childrens.harvard.edu

  • Help advance research for MED13L Syndrome by participating in our biorepository in partnership with COMBINEDBrain. The biorepository is a secure and centralized collection of biological samples that researchers can access to study the underlying biology of MED13L and develop future treatments.

    What is collected?

    • Saliva, blood, and/or urine samples from individuals with a confirmed MED13L diagnosis
    • (Optional) Samples from parents or other immediate family members
    • Consent for researchers to access de-identified samples and related clinical information

    Why participate?

    • Enable cutting-edge research on gene function, disease mechanisms, and treatment pathways
    • Contribute to a shared scientific resource that accelerates discoveries across multiple institutions
    • Build infrastructure for future clinical trials, including biomarker development and therapeutic targeting

    Who can participate?

    • Individuals with a confirmed MED13L diagnosis
    • Living or deceased individuals (postmortem donation options available)
    • Global participants welcome – multilingual support is available

    How do I sign up?
     Email rheilmann@med13l.org to learn more and begin the consent process.

    Your participation ensures that scientists have access to the biological data they need to better understand MED13L Syndrome. Together, we are building the foundation for tomorrow’s breakthroughs.

    2025 Roadshow Locations

    Hosting PAG(s) Dates Location Collection Site Address
    Hereditary Neuropathy Foundation April 24–25 Nashville, TN Sonesta Nashville Airport, 600 Marriott Dr, Nashville, TN 37214
    United Mitochondrial Disease Foundation June 19–20 St. Louis, MO Hyatt Regency St. Louis At The Arch, 315 Chestnut St, St Louis MO 63102
    Prader Willi Syndrome June 27–28 Phoenix, AZ Arizona Grand Resort & Spa, 8000 South Arizona Grand E, Phoenix, AZ 85044
    Med13L Foundation, CTNNB1 Connect & Cure July 11–12 Boston, MA Embassy Suites by Hilton Boston Waltham, 550 Winter Street, Waltham, MA 02451
    CSNK2A1 Foundation July 18–19 Denver, CO Embassy Suites by Hilton Denver Central Park, 4444 Havana Street, Denver, CO 80239
    STXBP1 Foundation July 19–20 Westminster, CO The Westin, 10600 Westminster Blvd, Westminster, CO 80020
    The Stiff Person Syndrome Research Foundation July 19–20 Windsor Locks, CT Sheraton Hartford Hotel at Bradley Airport, 1 Bradley International Airport, Windsor Locks, CT
    ZTTK SON-Shine Foundation Aug 9–10 Cambridge, MA Royal Sonesta Boston Hotel, 40 Edwin H Land Blvd, Cambridge, MA 02142
    KCNQ2 Cure Alliance Sept 26–27 Philadelphia, PA DoubleTree by Hilton Hotel Philadelphia Airport, 4509 Island Ave, Philadelphia, PA 19153
    SRF, Cure GABA-A Variants, SLC6A1 Connect Dec 4–5 Atlanta, GA TBD

  • Citizen Health is a secure, digital platform that helps families gather and manage their medical data while contributing to research.

    Citizen works in collaboration with RARE-X and Simons Searchlight, not as a replacement. Together, these two platforms provide a more complete picture of the MED13L journey:

    • Citizen focuses on medical record collection and organization.
    • RARE-X and Simons Searchlight captures caregiver-reported data through structured surveys.

    Used together, they create a powerful foundation for understanding MED13L Syndrome and preparing for clinical trials.Why Participate?

    • You Own the Data
       All data you upload to Citizen is accessible to you. You can download it and share it with doctors, therapists, and care teams.
    • Accelerate Research and Trials
       By contributing real-world health data and records, you help researchers understand disease progression, refine outcome measures, and prepare for clinical trial design.
    • Global, Inclusive, and Accessible
       Families from around the world can upload medical records in any language. Participation is open to individuals living or deceased.
    • Mobile-Friendly and Easy to Use
       Citizen simplifies medical data management, making it easy to participate in research while organizing your loved one’s health history in one place.
    • Strict Privacy Protections
       Citizen is fully compliant with international privacy laws, including HIPAA and GDPR. Your data is de-identified and only shared with your explicit consent.

    How to Get StartedDuration: Ongoing
    Who Can Participate: Anyone with a confirmed or suspected MED13L diagnosis (living or deceased)
    Contact: kbboychuck@med13l.org
    🔗 Sign Up: Join the Citizen Program

  • ‍If you and your family member with MED13L are or plan to be anywhere near San Francisco, email Dr. Willsey and sign up for the study. You get to see the lab, meet a researcher, and all you have to do is consent and breathe into a tube for a minute.  The data generated will support research with significant implications for our patients.

    WHAT – NEW STUDY OPPORTUNITY

    The MED13L Foundation has become aware of another study, and we encourage all MED13L families to participate. All you need is to show up and know the patient’s genetic mutations. We suggest bringing a copy or screenshot of the genetic report with you. The test is to breathe into a FeNO by NIOX machine for a minute. That’s it.WHERE – THE WILLSEY LAB, UCSF

    The study is being run out of the Willsey Lab at UCSF, located at 1651 4th Street in San Francisco in the Weill Neuroscience Building.

    WHO – YOU & WILLSEY LAB

    Participants: It is open to any patient with a genetic diagnosis related to Epilepsy and/or Autism and their family members. We encourage any family who can get themselves to the Willsey Lab in San Francisco to participate, especially those with MED13L. 

    Host: The MED13L Foundation knows Dr. Helen Willsey, and we are impressed with her genuine passion and commitment to translational science, which is research that will help patients. We cannot endorse this study strongly enough. To learn more about Dr. Willsey, please see this article about her from our partners at Simons: For more information on the Willsey Lab, visit their site. 

    WHY – TO MOVE FORWARD AS FAST AS POSSIBLE

    Collaboration between patients and scientists is at the very core of what The MED13L Foundation does to achieve our goal of a better future for our loved ones afflicted with MED13L.  Dr. Willsey has performed research in cells and animal models that have significant implications for MED13L.  This very easy, non-invasive, IRB-approved, short (minutes) study would help inform her work and could validate some of her findings.

    WHEN – ASAP

    The IRB approval began on August 16th and lasts for one year, but we want to get as many patients as possible to Dr. Willsey as soon as possible to inform her work.  If you can get to the Lab, please do.

    HOW – SEND AN EMAIL (OR TWO)

    To participate, please email Dr. Willsey and express your interest. Do not include any patient information in your email – just say you have a family member with MED13L and would like to participate in the nNO study. MED13L patients are encouraged to cc Dr. Rachel Heilmann so he will stop asking if you’ve done it yet.

    Once scheduled you will go to the Lab, fill out a consent and the patient and willing family members will breathe into a tube.  If the patient is over 18, there is another form.  This can all be discussed with Dr. Willsey via email in advance. 

    Here are their emails: helen.willsey@ucsf.edu & rheilmann@med13l.org

  • What is it?

    The Brain Gene Registry is a NIH grant-funded research study led by Washington University – St Louis, Boston Children’s/Harvard, and University of North Carolina. Genes of interest have an underlying intellectual disability and/or autism. While all can participate, it focuses on gathering information for variants of unknown significance (VUS). This is a one-time caregiver/patient-entered data collection research study.

    Why should you participate?

    • Anyone with a genetic report with a variant can participate. MED13L is a top gene of interest.
    • Enrollment in GenomeConnect is encouraged for notification of VUS (Variant of Unknown Significance) gene changes and other helpful resources.
    • A VUS means that there isn’t enough of or consistent quality information to determine that specific variant causes the disorder. Explanation of VUS by a Genetic Counselor that we can all understand!​
    • A one-time phone or video appointment for gathering medical history.
    • One time electronic survey and electronic submission of photos (face, hands, etc.).
    • Electronic medical history gathering from 13 participating clinical sites or manual upload if not seen at a participating site.
    • For individuals receiving a genetic report with a VUS, BGR gathers valuable clinical information that is necessary for reclassification of variants.
    • Reclassification to pathogenic or likely pathogenic variant is important for 1) validating a clearer diagnosis of MED13L vs another cause 2) being included in clinical trials 3) broadening the clinical and research communities understanding of symptoms.

    Read more about this unique opportunity or enroll here for any individual with a VUS.

  • What does the study entail?

    • MED13L Foundation owned biospecimens (blood, plasma, urine, programmable cells)
    • Involves a consent and you can change your mind at anytime
    • Can be done through home collection, a conference event, or other lab

    How do I participate?

    • Open access to researchers with approval from the board

  • What is it?

    Simons Searchlight is also a 501(c)(3) nonprofit established to study roughly 175 genes. Initially, this research study was focused on genes that contribute to autism. It has expanded to include broader neurodevelopmental genetic disorders. This is a caregiver/patient-entered long-term Natural History research study.

    Why should you participate?

    • Long time partner of The MED13L Foundation with researchers who have collected specific information from the community.
    • Phone interview for medical history.
    • Surveys focused on behavioral, developmental, seizures, communication and other neurological contributors – typically done annually.
    • Optional blood sample donations for the Simons Searchlight repository.
    • Select survey results analyzed on quarterly basis. Available here.
    • Languages for study participation include English, Spanish, French and Dutch.
    • Data and iPSC samples available to researchers only via request through SFARI base.

  • What is it?

    RARE-X is a 501(c)(3) nonprofit established to build a Data Collection Program for families impacted by MED13L. This is a caregiver-entered long-term Natural History research study.

    Why should you participate?

    • You own the data! Every survey you enter, you get a copy of! You can use this with doctors, therapists going forward to track your child’s personal history.
    • Every individual counts! Upload genetic reports in multiple languages, share data for those living or passed away, surveys available in English, French, Spanish, and Portuguese, constantly evolving to meet needs of families to advance research.
    • ALL those who consent will see aggregated data for surveys every quarter from the MED13L Foundation.
    • Easy integration into the MED13L website. You can always find your portal!
    • The MED13L Foundation (and researchers) can request de-identified data to share with the community and use for presentations, posters, and beyond.
    • Your data is de-identified and highly protected for anyone requesting it. (This includes compliance with privacy laws around the world!)
    • Inform researchers how MED13L changes over time for your loved one and the community.
    • Comprehensive and validated surveys and tools for trial readiness.
    • Enable the use of data as a placebo (instead of actual patients) in a clinical trial (FDA Guideline).