Neurological and neurogenetic disorders
Research activity includes amyotrophic lateral sclerosis with FUS mutations, Alexander disease, Angelman syndrome, Pelizaeus-Merzbacher disease, multiple system atrophy, and prion disease. The portfolio also includes studies in MECP2 duplication syndrome and Alzheimer’s disease in individuals with Down syndrome.
- FUS-ALS
- Angelman syndrome
- Multiple system atrophy
- Prion disease
- MECP2 duplication syndrome
These programmes reflect sustained interest in rare inherited and progressive conditions affecting the central nervous system.
Amyloid and transthyretin-mediated disease
Clinical research spans hereditary transthyretin-mediated amyloid polyneuropathy and transthyretin-mediated amyloid cardiomyopathy, with attention to both neurologic and cardiac manifestations of amyloid disease. The sponsor also supports work in related cardiovascular disease settings.
- Hereditary transthyretin-mediated amyloid polyneuropathy
- Transthyretin-mediated amyloid cardiomyopathy
- Cardiovascular disease
- Atherosclerosis
Interest in this domain extends across systemic amyloidosis and its organ-specific complications.
Triglyceride and lipid disorders
The sponsor funds studies in familial chylomicronemia syndrome, severe hypertriglyceridemia, hypertriglyceridemia, and atherosclerotic cardiovascular disease linked to abnormal lipid metabolism. This area includes investigation of patients with persistent elevations in triglycerides and inherited lipid disorders.
- Familial chylomicronemia syndrome
- Severe hypertriglyceridemia
- Hypertriglyceridemia
- Atherosclerotic cardiovascular disease
- Atherosclerosis
These trials focus on metabolic and cardiovascular conditions driven by dysregulated triglyceride handling.
Hereditary angioedema and complement-related disease
Research includes hereditary angioedema in adult and pediatric populations, covering long-term disease control and treatment tolerability. The sponsor’s portfolio in this field centers on recurrent swelling disorders with an inherited basis.
- Hereditary angioedema
- Hereditary angioedema in children
- Complement-mediated swelling disorders
These studies address a rare immunologic condition with significant impact across age groups.
Hematology and rare systemic disorders
Additional research spans polycythemia vera and other rare systemic conditions, including disorders with hematologic and multisystem involvement. The sponsor also maintains interest in disease areas such as prion diseases and other uncommon inherited conditions that require specialized therapeutic development.
- Polycythemia vera
- Rare hematologic disorders
- Prion diseases
- Inherited multisystem disorders
This portfolio broadens the sponsor’s therapeutic focus beyond neurology and metabolism into selected rare disease settings.
