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 diagnosis and intervention vital.1–4
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.5
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.6
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.
