Thorsten M.
- Country
- Germany
- Department
- Kinderklinik / Bereich angeborene Stoffwechselerkrankungen
Research Overview
- Efficacy and Safety of Pegtibatinase Added to Standard of Care in Participants with Classical Homocystinuria Due to Cystathionine Beta Synthase Deficiency
- An Open-label Study to Evaluate the Safety, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Both ERT-experienced and ERT-naïve Pediatric Subjects with Infantile-onset Pompe Disease Aged 0 to <18 Years
- Evaluation of Hydroxypropylbetadex and Standard of Care Versus Placebo in Niemann-Pick Disease Type C1: A Phase 3 Randomized, Double-Blind, Multicenter Study
Data & Insights
Has run more than one trial at 13 of 39 partner sites.
Specializations
Rare Genetic Disorders
This investigator specializes in the treatment and research of lysosomal storage disorders, with particular emphasis on Niemann-Pick disease type C and associated conditions.
- Niemann-Pick Disease Type C1
- GM1/GM2 Gangliosidoses
- Infantile-onset Pompe Disease
The investigator's work encompasses both pediatric and adult manifestations of these rare genetic conditions.
Therapeutic Approaches
The investigator focuses on evaluating novel therapeutic interventions including enzyme replacement therapy and innovative pharmaceutical compounds for rare genetic disorders.
- Cipaglucosidase alfa/miglustat combination therapy
- Nizubaglustat treatment
- N-Acetyl-L-Leucine therapy
Their research examines both treatment-experienced and treatment-naïve patient populations.
Clinical Assessment
The investigator employs specialized assessment tools to evaluate neurological manifestations and disease progression in rare genetic disorders.
- Ataxic manifestations evaluation
- Disease severity scaling
- Long-term therapeutic outcomes
Their work involves comprehensive monitoring of disease progression using standardized rating scales.
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