NCT06843811

Sirolimus for Leigh Syndrome

A Pilot Phase 2 Study With Long-Term Extension to Assess the Safety and Efficacy of Sirolimus in Patients With Leigh Syndrome Caused by Genetically-Confirmed Mitochondrial Respiratory Chain Deficiency

• Status: Enrolling By Invitation
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 15 (estimated)
• Sponsor: Matthew Demczko · Academic / Other
• Sex: All
• Age: 6 Months – 55 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to evaluate the safety and efficacy of the drug Sirolimus in participants with Leigh syndrome.

Detailed description

This is a pilot phase 2 study with long-term extension to evaluate the safety and efficacy of enteral sirolimus in patients with genetically-confirmed Leigh syndrome. Sirolimus will be given daily at a starting dose of 0.8 to 1.3 mg/m2 depending on subject age, weight, and BSA (body surface area). Dosage will be adjusted as needed based on sirolimus trough level to maintain patients within a range of 5 to10 ng/mL, a level lower than what is targeted in renal transplant recipients. Patients will be followed through this study for up to 24 weeks in the active phase. Participants who are eligible for the long-term extension may choose to stay on drug for up to 2 years thereafter

Conditions

• Leigh Syndrome

Interventions

Type	Name	Description
DRUG	Sirolimus	Sirolimus will be given at a starting dose of 0.8 to 1.3 mg/m2 twice daily, depending on subject age and weight.

Timeline

• Start date: 2025-02-27
• Primary completion: 2027-12-01
• Completion: 2027-12-01
• First posted: 2025-02-25
• Last updated: 2026-03-31

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study