Gaucher disease and lysosomal storage disorders
Research activity includes Gaucher disease type 1 and Gaucher disease type 3, with attention to both systemic disease control and central nervous system involvement. The portfolio reflects interest in substrate reduction therapy, enzyme replacement therapy, and biomarker-based assessment in adult and pediatric populations.
- Eliglustat
- Imiglucerase
- Venglustat
Clinical interest extends to cerebrospinal fluid biomarkers, neurologic manifestations of Gaucher disease type 3, and treatment approaches spanning combination therapy and maintenance therapy.
Hemophilia and bleeding disorders
The sponsor supports studies in hemophilia A and hemophilia B, including patients with and without inhibitory antibodies. The research focus centers on preventive treatment strategies and safety evaluation in both adult and pediatric populations.
- Fitusiran
- Factor VIII and factor IX deficiency
- Hemostatic prophylaxis
Areas of interest include long-term tolerability, treatment optimization in young children, and management of severe bleeding risk across inherited coagulation disorders.
Pediatric hematology and rare disease treatment
Several trials address treatment use in children and adolescents with rare inherited disorders, with emphasis on age-specific safety, pharmacokinetics, and clinical monitoring. This includes pediatric patients with Gaucher disease and hemophilia.
- Pediatric pharmacokinetics
- Long-term safety
- Rare genetic disorders
The sponsor’s portfolio shows sustained interest in therapies suited to younger patients, including conditions requiring chronic management and careful evaluation of tolerability.
Primary progressive multiple sclerosis
Research also includes primary progressive multiple sclerosis, with a focus on slowing disability progression and addressing neuroinflammatory disease mechanisms. The therapeutic area reflects interest in neurology and progressive demyelinating disease.
- Bruton’s tyrosine kinase inhibition
- Tolebrutinib (SAR442168)
- Disability progression
The trial portfolio includes evaluation of treatments targeting progressive neurologic impairment in a chronic autoimmune condition.
