Egetis Therapeutics (EGTX) Study Update summary

Background and disease overview

• MCT8 deficiency is a rare, X-linked disorder causing severe neurodevelopmental issues and peripheral thyrotoxicosis, mainly affecting males.

• The disease results from defective thyroid hormone transport into the brain, leading to high T3 levels in other tissues and increased childhood mortality.

• Estimated prevalence is about 1 in 70,000 males, with a global network established for patient management and data collection.

Diagnosis and patient identification

• Diagnosis is confirmed genetically, with a machine learning classifier aiding in variant interpretation.

• Most patients present with severe phenotypes; about 10% have milder forms.

• Referrals come from pediatricians, neurologists, geneticists, and endocrinologists, varying by country and healthcare system.

Treatment experience and study results

• Triac (MCT8) was developed as a targeted therapy, with trials starting in 2014 and global collaboration for recruitment.

• Triac effectively normalizes T3, improves metabolic symptoms, and reduces heart rate and body weight issues.

• Retrospective data suggest a threefold reduction in mortality for treated patients.

• No significant improvement in neurodevelopmental outcomes with high-dose early-life Triac.

• Parent-reported outcomes indicate overall better patient well-being.