Why the MIND Study Matters: Building Clinical Trial Readiness for MED13L with Abigail Svedeen, MS, CGC

Why the MIND Study Matters: Building Clinical Trial Readiness for MED13L

In this powerful and informative episode of Voices of MED13L, Vanessa sits down with Abigail Sveden, MS, CGC, a genetic counselor at the Boston Children's Hospital and member of the Rosamund Stone Zander Translational Neuroscience Center (TNC).

Together, they unpack the critical importance of the MIND Study — MED13L Syndrome Investigation of Natural History and Development — and what it means for families today and for the future of therapeutics.

🧬 What You'll Learn in This Episode:

• What translational neuroscience really means — and how lab discoveries move toward real-world treatments
• Why natural history studies are essential for clinical trial readiness
• How longitudinal data helps researchers understand development over time
• The role of neurobehavioral assessments (including the Vineland) in FDA-approved outcome measures
• Why standardized data collection is critical for future therapeutics
• New clinical observations emerging from the MED13L cohort
• How participation today helps prevent future families from facing a “Google search diagnosis”

Abigail shares how the TNC brings together experts in genetics, neurodevelopment, EEG, regulatory science, and basic research — all working toward one goal: improving outcomes for individuals with rare neurodevelopmental disorders like MED13L.

Vanessa also speaks candidly about the parent experience — the emotional weight of surveys, the importance of being heard, and why documenting your child’s story is one of the most powerful contributions you can make to the community.

📊 MIND Study Snapshot

• 🎯 Goal enrollment: 30 participants
• ✅ 27 fully enrolled
• 📈 24 have completed Year One components
• 🔁 Annual follow-up is critical for longitudinal data
• 📍 In-person visits at Boston Children’s Hospital prioritized (virtual options available)

Participation includes:

• Interview-style visits with the study team
• Neurobehavioral assessments
• Standardized questionnaires (including the Vineland)
• Medical record review
• Optional photo and biospecimen contribution

This data builds the foundation for:

• Clinical trial readiness
• FDA-accepted outcome measures
• Published research to educate physicians worldwide
• Future therapeutic development

💛 Why It Matters

Every story matters — especially in rare disease.

Participation helps:

• Define what MED13L looks like across the lifespan
• Identify patterns in development, seizures, puberty, motor differences, and more
• Inform physicians so families are no longer handed a Google printout
• Build the roadmap toward future treatments

Hope is built on data.
 Data is built by families.

🔬 Additional Research Opportunities

If the MIND Study is full, there are other ways to participate:

• MED13L Census (homepage of med13l.org)
• Simons Searchlight
• Rare-X
• Citizen Health (5-minute registration that helps collect medical records)

Links are available on the MED13L Foundation research page and below.

📩 Interested in the MIND Study?

To learn more or inquire about participation, contact:

Abigail Sveden, MS, CGC
📧 [email protected]

Support the show

Resources

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials: https://twb.nz/med13lfoundation

Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/

Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med...