Agathe R.
- Country
- France
- Department
- Service Neuropédiatrie
Research Overview
- 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
- Phase III Evaluation of Pabinafusp Alfa and Idursulfase in Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)
Data & Insights
Has run more than one trial at 17 of 46 partner sites.
Specializations
Rare Metabolic Disorders
This investigator specializes in treating pyruvate dehydrogenase deficiency, focusing on innovative therapeutic approaches to manage patient fatigue and metabolic dysfunction.
- Metabolic pathway disorders
- Energy metabolism disorders
- Glycerol phenylbutyrate therapy
Expertise extends to evaluating treatment efficacy in rare metabolic conditions.
Genetic Disorders
The investigator conducts research in Mucopolysaccharidosis type II (Hunter Syndrome), with particular attention to central nervous system manifestations and somatic symptoms.
- Lysosomal storage disorders
- CNS-targeted therapies
- Long-term treatment outcomes
Focus includes evaluating novel therapeutic approaches for genetic disorders affecting multiple body systems.
Neurological Conditions
Specialization includes treatment of Late Metachromatic Leukodystrophy and Type 1 interferonopathies, with emphasis on enzyme replacement therapies and immune system modulation.
- Leukodystrophies
- Intrathecal therapeutic delivery
- Immune system disorders
Expertise in managing complex neurological manifestations of rare diseases.
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