Therapeutic Areas and Diseases
Transthyretin Amyloidosis (ATTR)
Transthyretin Amyloidosis (ATTR) is an underdiagnosed, rapidly progressing, fatal, multisystem disease, caused by misfolded TTR accumulating as amyloid deposits in multiple organs. Patients with ATTR amyloidosis experience progressively debilitating symptoms and high morbidity and mortality rates, making early intervention vital.
Acute Hepatic Porphyria (AHP)
Acute Hepatic Porphyria (AHP) is a group of rare genetic disorders caused by dysregulation of heme biosynthesis in the liver, leading to the accumulation of neurotoxic intermediates such as aminolevulinic acid (ALA) and porphobilinogen (PBG). It presents with acute, potentially life-threatening attacks, and may also cause chronic symptoms that negatively impact patient functioning and quality of life.
Primary Hyperoxaluria Type 1 (PH1)
Primary Hyperoxaluria Type 1 (PH1) is a rare metabolic disorder caused by mutations in the alanine glyoxylate aminotransferase (AGXT) gene that result in a deficiency of liver-specific peroxisomal alanine glyoxylate aminotransferase (AGT) and consequent overproduction of oxalate by the liver. When the kidneys can no longer clear excess oxalate, calcium oxalate (CaOx) crystals deposit in other tissues, leading to systemic oxalosis.
Cardiovascular (CV)
Cardiovascular disease from renin angiotensin aldosterone system (RAAS) dysfunction arises when overactivation of the pathway drives excess angiotensin II production, leading to vasoconstriction, sodium retention, vascular remodelling, and hypertension. The consequences of uncontrolled hypertension are associated with significant physical and psychosocial impacts on patients' daily lives.
Neurological
Neurological disease such as Alzheimer’s disease (AD) and cerebral amyloid angiopathy (CAA) can occur when misfolded proteins accumulate in the brain, forming amyloid deposits in the neural tissue and blood vessel walls. These deposits disrupt normal cellular function, impair vascular integrity, and contribute to progressive cognitive decline, memory loss, and increased risk of intracerebral haemorrhage.
References:
- Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB. Ann Med. 2015;47(8):625-638.
- Gertz MA. Am J Manag Care. 2017;23(7):S107-S112.
- Conceicao I, Gonzalez-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21:5-9.
- Ando Y, Coehlo T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
- Moghe, A, Dickey A, Erwin A, et al. Molecular Genetics and Metabolism. 2023;140(3).
- Fargue S, Acquaviva Bourdain C. Clin Kidney J. 2022;15(1):i4-i8.
- Fountain JH, Kaur J, Lappin SL. StatPearls Publishing. 2025.
- Noto NM, Speth RC, Robison LS. Front Aging Neurosci. 2025;17:1632252.
