RESEARCH — Roadmap
Path to a Breakthrough
A milestone-based roadmap of ZTTK research — from foundational science to first-in-human clinical trial. Updated as the science advances.
Research milestones
2015
SON gene identified as cause of ZTTK syndrome
Landmark discovery establishing that de novo mutations in the SON gene cause ZTTK syndrome. Published by multiple independent research groups, providing the genetic foundation for all subsequent research.
2017–2018
Patient registry established
Creation of a formal patient registry to systematically collect clinical and genetic data across the growing global cohort. Essential infrastructure for understanding disease natural history.
2019–2020
Mouse model developed
First animal model replicating the ZTTK phenotype. Enables preclinical drug screening and validates therapeutic targets in a living system.
2021–2023
iPSC patient model established
Patient-derived induced pluripotent stem cells provide a human-relevant platform for testing potential therapies. Bridges the gap between animal models and clinical application.
2024–2026
Drug candidate screening
High-throughput screen of approved compounds for SON restoration activity. Using both mouse and iPSC models to identify candidates with therapeutic potential.
2024–2026
Natural history study
Longitudinal characterisation of ZTTK disease progression across the global patient cohort. Critical for defining clinical endpoints for future trials.
2024–2026
Lead compound optimisation
Refinement of top screening hits for efficacy, selectivity, and drug-like properties. The step between finding a candidate and proving it works.
2026–2027
IND-enabling studies
Preclinical safety and efficacy data required for first human trial application. The final gate before a treatment can be tested in patients.
2027+
Phase I clinical trial
First-in-human safety study. The milestone this entire roadmap is built toward — testing a potential treatment in ZTTK patients for the first time.
2028+
Expanded access & FDA pathway
Expanded access program for eligible patients, followed by pivotal trials and regulatory submission. The path from proven safety to approved treatment.
The work happening now funds the breakthrough
Each milestone builds directly on the last. The mouse model enabled drug screening. The iPSC model enabled human-relevant testing. The drug candidate screening underway today will produce the lead compound that enters IND-enabling studies — and eventually the Phase I trial.
ZTTK Foundation funding is the primary driver of milestones 5 through 7. Your donation keeps this pipeline moving.
Fund the next milestone
Your donation directly advances this research roadmap. Every dollar funds the science that will produce a first treatment for ZTTK syndrome.
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