Working together toward a cure
Hope is on the horizon.
ASO Testing in Mouse Models
2026-27
Once a potentially effective ASO has been identified, pre-clinical testing in a mouse model helps to establish effectiveness and ensure it can be safely administered to humans.
International Registry Development
2025-26
Coordinated efforts are underway in the US, France and Germany to establish a federated network of MYT1L registries using a common protocol, enabling the sharing and pooling of data for studies with international scope.
ASO Discovery
2022-25
ASO's (antisense oligonucleotides) are molecules that can bind to RNA to alter gene expression. The "discovery" phase is the first step in identifying an ASO that will work specifically to up-regulate the MYT1L gene. This work is in progress and expected to conclude within the next year.
Clinical Trials
2027-30
Before an effective ASO can be brought to market, clinical trials are needed to ensure both safety and effectiveness in humans.
​
Clinical trials may also be needed to test re-purposed medications predicted to be effective in MYT1L Syndrome. While already approved medications may be able to be prescribed "off label", clinical trials and an FDA stamp of approval specifically for MYT1L syndrome can help clinicians to be comfortable prescribing, and can help establish insurance coverage for these meds in individuals with MYT1L Syndrome
Drug Repurposing Studies
2025-27
The MYT1L Project is working with researchers at Washington University and industry partners to identify and test potentially effective treatments from among already-approved and available medications. High powered computing algorithms are able to sift through massive databases to match MYT1L Syndrome-specific RNA expression data with potentially helpful medications. Once candidate medications are identified, they can be tested in MYT1L haploinsufficient neurons in the laboratory, and ultimately in mouse models of MYT1L syndrome.
Cre Lox Testing
2024-25
Cre Lox mice are mice bred to enable the turning on or off of a gene difference at a specific point in the mouse's lifespan. This allows scientists to study whether, and at what point in the lifespan, a gene based treatment could be effective in preventing or reversing the effects a MYT1L mutation.