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
📧 abigail.sveden@childrens.harvard.edu
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...
