Why the MIND Study Matters: Building Clinical Trial Readiness for MED13L with Abigail Svedeen, MS, CGC - The Voices of MED13L | Lyssna här

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: