Research & Clinical Collaboration

Our mission

15q13.3 deletion syndrome is rare, understudied, and deeply personal to the families who live with it. We built this registry because we are one of those families. Our goal is to accelerate understanding of the condition by making high-quality, family-contributed data available to qualified researchers and clinicians — on terms that families choose and control.

Privacy and participant choice

Every piece of data in this registry was shared voluntarily by a family who trusts us to protect it. That trust is non-negotiable.

• Granular consent. Families choose exactly which data domains to share and with which research partners. Consent can be withdrawn at any time, and withdrawal takes effect immediately.
• De-identification by default. Researcher access is to aggregate, de-identified cohort data. Individual records are never exposed without explicit, per-study consent from the participant's caregiver.
• Anti-differencing protections. All counts are rounded and sub-category totals are independently rounded to prevent re-identification through statistical differencing.
• HIPAA-compliant infrastructure. All data is encrypted at rest with customer-managed keys, transmitted over TLS, and hosted within a GCP VPC Service Control perimeter with full audit logging.

How access works

1. Submit a request. Create an account (the same login families use) and fill out a short application with your institutional affiliation, IRB protocol, and intended use of the data. Clinicians can include their NPI for verification.
2. Foundation review. A foundation administrator reviews your credentials. We verify institutional affiliation and IRB status. This typically takes 3–5 business days.
3. Data Access Group assignment. Approved researchers are assigned to a Data Access Group that determines which cohort views and export tables they can query. Access is scoped to the specific data domains covered by your protocol.
4. Ongoing accountability. All queries are logged. Access can be revoked if terms of use are violated. Annual re-certification is required.

What you can access

• Cohort queries. Aggregate statistics across the registry population — medication pathways, comorbidity prevalence, age distributions, stop rates — all rounded and de-identified.
• OMOP CDM exports. Standardized research exports in OMOP Common Data Model v5.4 format, ready for integration with federated research networks.
• Clinician summaries. For treating clinicians with active patient consent, de-identified summaries of their own consented patients (NPI verification required).