Costanza L.
- Country
- Italy
- Department
- Unit of Medical Genetics and Neurogenetics
Research Overview
- Open-label extension study of KL1333 for long-term safety, tolerability, and efficacy in adults with primary mitochondrial disease
- Phase 2a Study on Safety, Tolerability, and Pharmacodynamics of OMT-28 in Patients with Primary Mitochondrial Disease-Associated Myopathy/Cardiomyopathy
- Open-Label Extension Study on Long-Term Safety of Zagociguat in MELAS Patients Post TIS6463-203 Completion
Data & Insights
Has run more than one trial at 9 of 32 partner sites.
Specializations
Mitochondrial Disorders
The investigator specializes in the treatment of primary mitochondrial diseases, with particular expertise in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes).
- Mitochondrial Disease Management
- Metabolic Disorder Treatment
- Rare Disease Therapeutics
Active involvement in evaluating novel therapeutic approaches for mitochondrial disorders affecting muscle and brain function.
Neuromuscular Medicine
Focuses on addressing myopathy and cardiomyopathy in patients with mitochondrial diseases, particularly examining treatments that target fatigue and muscle strength.
- Muscle Function Assessment
- Fatigue Management
- Physical Endurance Evaluation
Expertise in evaluating therapeutic interventions for neuromuscular manifestations of mitochondrial disorders.
Clinical Assessments
Specializes in evaluating cognitive function and quality of life measures in patients with mitochondrial diseases, focusing on both acute and long-term therapeutic outcomes.
- Cognitive Assessment
- Daily Living Impact Analysis
- Treatment Response Monitoring
Experienced in conducting comprehensive evaluations of treatment efficacy and safety in rare metabolic disorders.
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