Bénédicte H.
- Country
- France
- Department
- Department of child neurolgy
Research Overview
- Long-term Safety and Efficacy Evaluation of Pabinafusp Alfa in Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)
- Phase 3 Study on the Efficacy and Safety of Nizubaglustat (AZ-3102) in Late-Infantile and Juvenile Niemann-Pick Type C and GM1/GM2 Gangliosidoses
- 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 10 of 22 partner sites.
Specializations
Lysosomal Storage Disorders
The investigator specializes in treating rare genetic conditions affecting the body's ability to break down specific substances. Their research encompasses Niemann-Pick type C disease and GM1/GM2 gangliosidoses, focusing on therapeutic interventions for ataxic manifestations in late-infantile and juvenile forms of these conditions.
- Niemann-Pick Disease Type C
- GM1 Gangliosidosis
- GM2 Gangliosidosis
Mucopolysaccharidosis
The investigator conducts research in Mucopolysaccharidosis type II, also known as Hunter Syndrome. Their work centers on evaluating innovative treatments targeting both central nervous system and somatic symptoms in affected patients.
- CNS Manifestations
- Somatic Symptoms
- Long-term Treatment Outcomes
Neurological Manifestations
The investigator focuses on addressing neurological complications in rare genetic disorders, with particular attention to central nervous system involvement in metabolic diseases. Their research examines long-term therapeutic approaches for managing progressive neurological symptoms.
- Ataxic Manifestations
- CNS Symptoms
- Progressive Neurological Disorders
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