Ralitza H. Gavrilova, M.D.

The North American Mitochondrial Disease Consortium (NAMDC)maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

The purpose of this study is to evaluate the effects of zagociguat on fatigue and cognition in patients with MELAS.

The primary purpose of this dose-ranging study is to assess the safety and tolerability of 3 ascending doses of LX2006 gene therapy for the purpose of selecting the appropriate dose for further clinical development. In addition, assessments of biomarkers and preliminary efficacy are included in this study.

The primary purpose of the LTFU is to assess the long-term safety and tolerability of LX2006 up to 5 years post-treatment. Additionally, efficacy assessments will be evaluated quarterly during Year 2 and annually up to 5 years post-treatment.

The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

The purpose of this study is to test the safety and effectiveness of synthetically produced (+) Epicatechin for treating patients who have Friedreich's Ataxia, a neurological disorder.

The purpose of this study is to evaluate the effectiveness, safety and tolerability of ASP0367 in participants with Primary Mitochondrial Myopathy (PMM).

The purpose of this study is to create a clinical registry of patients with FRDA seen at Mayo Clinic.

The primary objective of this study is to investigate the safety and tolerability of RO7248824 in participants with Angelman Syndrome (AS) aged 1-12 years.

The purpose of this study is to establish a patient and clinical information database, and a genetic material biobank to better characterize the symptoms and unknown genetic causes of Angelman syndrome

The purpose of this study is to further the natural history knowledge about primary mitochondrial diseases through observational imaging techniques, and to assess for indicators of primary mitochondrial diseases through several methods including MRI imaging of the heart and muscles, and through scoring of residual movements from patient recorded videos showing basic home exercise. 

The purpose of this study is to improve the diagnostic yield and categorize the disease severity of each individual based on a novel quantitative combined metabolomics, clinical and genomic biomarker panel score; innovatively monitor the individual disease progression and response to therapy; and optimize a non-invasive diagnostic urine sample test for clinical application that will examine mtDNA.