Matthew Demczko
The purpose of this study is to evaluate the safety and efficacy of the drug Sirolimus in participants with Leigh syndrome.
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 eligibl…
Inclusion Criteria: 1. Genetically-confirmed diagnosis of Leigh syndrome with neurodevelopmental manifestations, which include documented developmental delay, developmental regression, or abnormal neurologic exam findings including but not limited to hypotonia, hypertonia, dystonia, chorea, nystagmus, ataxia, dysmetria, tremor or muscle weakness. 2. Age 6 months to 55 years at the time of enrollment. 3. Weight ≥ 5 kg at the time of enrollment. 4. Adequate liver function as evidenced by total bilirubin \< 1.5x upper limit of normal (ULN) and liver function tests, alanine transaminase (ALT) and…
Sirolimus will be given at a starting dose of 0.8 to 1.3 mg/m2 twice daily, depending on subject age and weight.
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