Florence P.
- Country
- France
- Department
- Génétique clinique Guy Fontaine
Research Overview
- A Phase II double-blind multi-center, placebo-controlled trial, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP)
- Evaluation of Lithium Carbonate in TBR1-Related Neurocognitive Disorder: A 24-Month Multicenter, Open-Label, Controlled Pilot Study
Data & Insights
Has run more than one trial at 4 of 19 partner sites.
Specializations
Neurodevelopmental Disorders
This investigator specializes in treating rare genetic conditions affecting cognitive development, particularly focusing on TBR1-related neurocognitive disorders. Their research explores therapeutic interventions using lithium carbonate to improve adaptive behavior in affected patients.
- TBR1 Gene Variants
- Cognitive Function Assessment
- Adaptive Behavior Evaluation
The research includes long-term observation and treatment protocols for patients with confirmed pathogenic TBR1 variants.
Rare Genetic Syndromes
The investigator conducts research in Megalencephaly-Capillary Malformation Polymicrogyria syndrome (MCAP), a rare genetic condition affecting brain development. Their work involves evaluating novel therapeutic approaches using alpelisib treatment.
- MCAP Syndrome Management
- Brain Development Disorders
- Adaptive Behavior Assessment
The research focuses on both pediatric and adult populations affected by MCAP syndrome.
Clinical Therapeutics
This investigator specializes in long-term therapeutic interventions for rare neurological conditions. Their expertise includes implementing extended treatment protocols and monitoring adaptive behavior outcomes over significant time periods.
- Treatment Efficacy Assessment
- Safety Monitoring
- Multicentre Trial Coordination
The research encompasses comprehensive evaluation of treatment responses across multiple patient populations.
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