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Alpha-1 antitrypsin or α1-antitrypsin is a protein belonging to the serpin superfamily. It is encoded in humans by the SERPINA1 gene. A protease inhibitor, it is also known as alpha1–proteinase inhibitor (A1PI) or alpha1-antiproteinase (A1AP) because it inhibits various proteases. As a type of enzyme inhibitor, it protects tissues from enzymes of inflammatory cells, especially neutrophil elastase.
Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase, which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages. Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.
Glycogen storage disease type II(GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy2V, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme (GAA). The inability to breakdown glycogen within the lysosomes of cells leads to progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and the nervous system.
Factor VIII is a medication used to treat and prevent bleeding in people with hemophilia A and other causes of low factor VIII. Certain preparations may also be used in those with von Willebrand's disease. It is given by slow injection into a vein.
Acid lipase disease or deficiency is a name used to describe two related disorders of fatty acid metabolism. Acid lipase disease occurs when the enzyme lysosomal acid lipase that is needed to break down certain fats that are normally digested by the body is lacking or missing. This results in the toxic buildup of these fats in the body's cells and tissues. These fatty substances, called lipids, include waxes, oils, and cholesterol.
Alglucosidase alfa, sold under the brand name Myozyme among others, is an enzyme replacement therapy (ERT) orphan drug for treatment of Pompe disease, a rare lysosomal storage disorder (LSD). Chemically, the drug is an analog of the enzyme that is deficient in patients affected by Pompe disease, alpha-glucosidase. It is the first drug available to treat this disease.
Taliglucerase alfa, sold under the brand name Elelyso among others, is a biopharmaceutical medication developed by Protalix and Pfizer. The drug, a recombinant glucocerebrosidase used to treat Gaucher's disease, is the first plant-made pharmaceutical to win approval by the U.S. Food and Drug Administration (FDA). Each vial has 200 units of taliglucerase alfa.
Lysosomal acid lipase deficiency is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme. This enzyme plays an important role in breaking down fatty material in the body. Infants, children and adults that have LAL deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of fatty material in a number of body organs including the liver, spleen, gut, in the wall of blood vessels and other important organs.
Turoctocog alfa is a recombinant antihemophilic factor VIII used for the treatment of and prophylaxis of bleeding patients with haemophilia A. It is marketed by Novo Nordisk. It was approved in the United States, the European Union, and Japan in 2013.
Elosulfase alfa, sold under the brand name Vimizim, is a medication used for the treatment of Morquio syndrome which is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Elosulfase alfa is a synthetic version of this enzyme.
Synageva BioPharma Corp. was a publicly listed biopharmaceutical company headquartered in Lexington, Massachusetts dedicated to discovering, developing and delivering medicines for patients with rare diseases and high unmet medical needs. The company had manufacturing and laboratory locations in Lexington and Holden, Massachusetts, Bogart and Athens Georgia, as well as offices in a variety of locations around the world.
Asfotase alfa, sold under the brand name Strensiq, is a medication used in the treatment of people with perinatal/infantile- and juvenile-onset hypophosphatasia.
Migalastat, sold under the brand name Galafold, is a medication for the treatment of Fabry disease, a rare genetic disorder. It was developed by Amicus Therapeutics. The US Food and Drug Administration (FDA) granted it orphan drug status in 2004, and the European Commission followed in 2006. The European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) granted the drug a marketing approval under the name Galafold in May 2016.
Cerliponase alfa, marketed as Brineura, is an enzyme replacement treatment for Batten disease, a neurodegenerative lysosomal storage disease. Specifically, Cerliponase alfa is meant to slow loss of motor function in symptomatic children over three years old with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). The disease is also known as tripeptidyl peptidase-1 (TPP1) deficiency, a soluble lysosomal enzyme deficiency. Approved by the United States Food and Drug Administration (FDA) on 27 April 2017, this is the first treatment for a neuronal ceroid lipofuscinosis of its kind, acting to slow disease progression rather than palliatively treat symptoms by giving patients the TPP1 enzyme they are lacking.
Susoctocog alfa, sold under the brand name Obizur, is a medication used for the treatment of bleeding episodes in adults with acquired haemophilia, a bleeding disorder caused by the spontaneous development of antibodies that inactivate factor VIII.
Vonicog alfa, sold under the brand names Vonvendi and Veyvondi, is a medication used to control bleeding in adults with von Willebrand disease. It is a recombinant von Willebrand factor.
Efmoroctocog alfa, sold under the brand name Elocta among others, is a medication for the treatment and prophylaxis of bleeding in people with hemophilia A. Efmoroctocog alfa is a recombinant human coagulation factor VIII, Fc fusion protein (rFVIIIFc). It is produced by recombinant DNA technology in a human embryonic kidney (HEK) cell line.
Velmanase alfa, sold under the brand name Lamzede, is a medication used for the treatment of alpha-mannosidosis. Velmanase alfa is a recombinant human lysosomal alpha-mannosidase.
Avalglucosidase alfa, sold under the brand name Nexviazyme, is an enzyme replacement therapy medication used for the treatment of glycogen storage disease type II.
Olipudase alfa, sold under the brand name Xenpozyme, is a medication used for the treatment of non-central nervous system (CNS) manifestations of acid sphingomyelinase deficiency type A/B or type B.
References
- ↑ "Sebelipase alfa (Kanuma) Use During Pregnancy". Drugs.com. 14 June 2019. Retrieved 4 May 2020.
- ↑ "Prescription medicines: registration of new chemical entities in Australia, 2017". Therapeutic Goods Administration (TGA). 21 June 2022. Retrieved 9 April 2023.
- ↑ "Prescription medicines and biologicals: TGA annual summary 2017". Therapeutic Goods Administration (TGA). 21 June 2022. Retrieved 31 March 2024.
- ↑ "Genetic disorders". Health Canada . 9 May 2018. Retrieved 13 April 2024.
- 1 2 3 "Kanuma- sebelipase alfa injection, solution, concentrate". DailyMed. 18 December 2018. Retrieved 4 May 2020.
- 1 2 3 4 "Kanuma EPAR". European Medicines Agency (EMA). 17 September 2018. Retrieved 4 May 2020. Text was copied from this source which is copyright European Medicines Agency. Reproduction is authorized provided the source is acknowledged.
- 1 2 "Kanuma (Sebelipase alfa)". U.S. Food and Drug Administration (FDA). 6 January 2016. Retrieved 4 May 2020.
- 1 2 "New Drugs Online Report for sebelipase alfa". UK Medicines Information. Archived from the original on 4 March 2016. Retrieved 10 December 2015.
- 1 2 Sheridan C (February 2016). "FDA approves 'farmaceutical' drug from transgenic chickens". Nature Biotechnology. 34 (2): 117–9. doi:10.1038/nbt0216-117. PMID 26849497. S2CID 7593902.
- ↑ "FDA approves first drug to treat a rare enzyme disorder in pediatric and adult patients". FDA. 8 December 2015. Retrieved 10 December 2015.
- ↑ Burton BK, Balwani M, Feillet F, Barić I, Burrow TA, Camarena Grande C, et al. (September 2015). "A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency". The New England Journal of Medicine. 373 (11): 1010–20. doi: 10.1056/NEJMoa1501365 . hdl: 11577/3168673 . PMID 26352813.
