Federica D.
- Country
- Italy
- Department
- Metabolic Diseases and Hepatology Unit
Research Overview
- Pharmacokinetics, Safety, and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Gaucher Disease Types 1 and 3: A Multicenter Study
- Long-term Safety and Efficacy Evaluation of Pabinafusp Alfa in Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)
- Long-Term Safety and Efficacy of Intrathecal Cebsulfase Alfa in Pediatric Patients with Late Metachromatic Leukodystrophy: An Extension of Study HGT-MLD-070
Data & Insights
Has run more than one trial at 15 of 33 partner sites.
Specializations
Lysosomal Storage Disorders
The investigator specializes in treating rare genetic disorders, particularly focusing on lysosomal storage diseases that affect both central nervous system and somatic functions.
- Metachromatic Leukodystrophy (MLD)
- Gaucher Disease Type I and III
- Hunter Syndrome (MPS II)
Their research encompasses innovative therapeutic approaches including intrathecal enzyme replacement therapies.
Neurological Conditions
The investigator's work centers on neurodegenerative disorders, with particular attention to conditions affecting motor function and central nervous system development.
- Late Infantile MLD
- CNS manifestations in MPS II
- Locomotor function assessment
Their expertise includes evaluating treatments targeting neurological symptoms in genetic disorders.
Pediatric Therapeutics
The investigator focuses on developing and evaluating therapeutic interventions specifically designed for pediatric patients with rare genetic conditions.
- Long-term safety monitoring
- Enzyme replacement therapy
- Novel drug delivery methods
Their work encompasses both immediate treatment outcomes and long-term therapeutic effects in young patients.
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