Research
ZTTK Syndrome Natural History Study
Ada Lio
ZTTK SON-Shine Foundation
Started January 2022
Funding
In partnership with Citizen Health (US data) and Rare-X (global data)
A comprehensive, ongoing effort to document the clinical course of ZTTK syndrome across age groups through patient registries and data-sharing platforms, establishing baseline data essential for future clinical trial design.
Understanding the natural progression of ZTTK syndrome is a prerequisite for meaningful clinical trials. This ongoing study collects longitudinal clinical data from the ZTTK community through two complementary platforms: Citizen Health, which aggregates de-identified medical records from US patients, and Rare-X, which captures patient-reported outcomes through structured surveys available in multiple languages.
The landmark 2022 study by Dingemans et al. analyzed 52 individuals with SON variants and established the phenotypic spectrum of ZTTK, documenting feature frequencies including intellectual disability (100%), speech delay (100%), motor delay (96%), and epilepsy (50%). The current natural history effort builds on this foundation with a larger, more diverse cohort and longitudinal follow-up.
Data from these programs directly supports regulatory strategy: demonstrating disease burden, establishing clinical endpoints that matter to patients and families, and providing natural history comparator data that could reduce the need for placebo-controlled trial arms — critical for a condition affecting children.