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Lysosomal storage diseases are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it.
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner.
Glycogen storage disease type II, also called Pompe disease, 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. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe.
Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body. Usually, this is done by giving the patient an intravenous (IV) infusion of a solution containing the enzyme.
BioMarin Pharmaceutical Inc. is an American biotechnology company headquartered in San Rafael, California. It has offices and facilities in the United States, South America, Asia, and Europe. BioMarin's core business and research is in enzyme replacement therapies (ERTs). BioMarin was the first company to provide therapeutics for mucopolysaccharidosis type I, by manufacturing laronidase. BioMarin was also the first company to provide therapeutics for phenylketonuria (PKU).
Alglucerase was a biopharmaceutical drug for the treatment of Gaucher's disease. It was a modified form of human β-glucocerebrosidase enzyme, where the non-reducing ends of the oligosaccharide chains have been terminated with mannose residues.
Sanofi Genzyme is an American biotechnology company based in Cambridge, Massachusetts. Since its acquisition in 2011, Genzyme has been a fully owned subsidiary of Sanofi. In 2010, Genzyme was the world’s third-largest biotechnology company, employing more than 11,000 people around the world. As a subsidiary of Sanofi, Genzyme has a presence in approximately 65 countries, including 17 manufacturing facilities and 9 genetic-testing laboratories. Its products are also sold in 90 countries. In 2007, Genzyme generated $3.8 billion in revenue with more than 25 products on the market. In 2006 and 2007, Genzyme was named one of Fortune magazine’s “100 Best Companies to Work for”. The company donated $83 million worth of products worldwide; in 2006, it made $11 million in cash donations. In 2005, Genzyme was awarded the National Medal of Technology, the highest level of honor awarded by the president of the United States to America’s leading innovators.
Iduronidase, sold as Aldurazyme, is an enzyme with the systematic name glycosaminoglycan alpha-L-iduronohydrolase. This enzyme catalyses the hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate.
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 speaking, 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.
John Francis Crowley is an American biotechnology executive and entrepreneur and the chairman and CEO of Amicus Therapeutics. He co-founded Novazyme Pharmaceuticals with William Canfield, which was later acquired by Genzyme Corporation, and founded Orexigen Therapeutics. In 2006, he was profiled in the book The Cure: How a Father Raised $100 Million – And Bucked the Medical Establishment – In a Quest to Save His Children by Geeta Anand. In 2010, Crowley released his memoir, Chasing Miracles: The Crowley Family Journey of Strength, Hope, and Joy. Crowley and his family were the inspiration for the movie Extraordinary Measures starring Harrison Ford and Brendan Fraser in 2010.
Extraordinary Measures is a 2010 American medical drama film starring Brendan Fraser, Harrison Ford, and Keri Russell. It was the first film produced by CBS Films, the film division of CBS Corporation, who released the film on January 22, 2010. The film is about parents who form a biotechnology company to develop a drug to save the lives of their children, who have a life-threatening disease. The film is based on the true story of John and Aileen Crowley, whose children have Pompe's disease. The film was shot in St. Paul, Oregon; Portland, Oregon; the Corner Saloon in Tualatin, Oregon; Manzanita, Oregon; Beaverton, Oregon, and Vancouver, Washington.
Velaglucerase alfa, sold under the brand name Vpriv and manufactured by Shire plc, is a hydrolytic lysosomal glucocerebroside-specific enzyme, which is a recombinant form of glucocerebrosidase indicated as a long-term enzyme replacement therapy for those suffering of Gaucher disease Type 1. It has an identical amino acid sequence to the naturally occurring enzyme. It was approved for use by the U.S. Food and Drug Administration (FDA) on February 26, 2010.
Emil Kakkis is an American medical geneticist known for his work to develop treatments for ultra rare disorders. He is the President and Founder of the Kakkis Everylife Foundation for Rare Disease and Chief Executive Officer and President at Ultragenyx Pharmaceutical Inc.
Eliglustat, sold under the brand name Cerdelga, is a medication used for the treatment of Gaucher's disease. It was discovered at the University of Michigan, developed by Genzyme Corp, and was approved by the FDA in August 2014. Commonly used as the tartrate salt, the compound is believed to work by inhibition of glucosylceramide synthase. According to an article in Journal of the American Medical Association the oral substrate reduction therapy resulted in "significant improvements in spleen volume, hemoglobin level, liver volume, and platelet count" in untreated adults with Gaucher disease Type 1.
Amicus Therapeutics is a public American biopharmaceutical company based in Philadelphia, PA. The company went public in 2007 under the NASDAQ trading symbol FOLD. This followed a 2006 planned offering and subsequent withdrawal, which would have established the trading symbol as AMTX Prior to their IPO, Amicus was funded by a variety of venture capital firms including Radius Ventures, Canaan Partners and New Enterprise Associates.
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.
Henri A. Termeer was a Dutch biotechnology executive and entrepreneur who is considered a pioneer in corporate strategy in the biotechnology industry for his tenure as CEO at Genzyme. Termeer created a business model adopted by many others in the biotech industry by garnering steep prices— mainly from insurers and government payers— for therapies for rare genetic disorders known as orphan diseases that mainly affect children. Genzyme uses biological processes to manufacture drugs that are not easily copied by generic-drug makers. The drugs are also protected by orphan drug acts in various countries which provides extensive protection from competition and ensures coverage by publicly funded insurers. As CEO of Genzyme from 1981 to 2011, he developed corporate strategies for growth including optimizing institutional embeddedness nurturing vast networks of influential groups and clusters: doctors, private equity, patient-groups, insurance, healthcare umbrella organizations, state and local government, alumni. Termeer is "connected to 311 board members in 17 different organizations across 20 different industries" He has the legacy of being the "longest-serving CEO in the biotechnology industry.
Yuan-Tsong Chen is a Taiwanese physician scientist, notable for his work on human genetic disorders. He is the director emeritus (2001–2010) and distinguished research fellow (2001–present) of the Institute of Biomedical Sciences, Academia Sinica, Taiwan, and also tenured professor of pediatrics of Duke University (1993–present) Chen was a 2019 awardee of Taiwan's Presidential Science Award, as were Yuan-Pern Lee and Wei Fu-chan.
Autophagic Vacuolar Myopathy (AVM) consists of multiple rare genetic disorders with common histological and pathological features on muscle biopsy. The features highlighted are vacuolar membranes of the autophagic vacuoles having sarcolemmal characteristics and an excess of autophagic vacuoles. There are currently five types of AVM identified. The signs and symptoms become more severe over the course of the infection. It begins with an inability to pick up small objects and progresses to difficulty in walking. The age of onset varies from early childhood to late adulthood, affecting people of all ages.
Avalglucosidase alfa, sold under the brand name Nexviazyme, is an enzyme replacement therapy medication used for the treatment of glycogen storage disease type II.
References
- ↑ http://staging.okcommerce.gov/test1/dmdocuments/2003_August_Folio_22080446.pdf Oklahoma State department of commerce - August 2003 report. Retrieved 2009-11-21.
- ↑ http://www.catalysthealthventures.com/?page=26&type=other Acquisition details
- ↑ http://ouphysicians.com/body.cfm?id=3960
- ↑ Chen, Yuan-Tsong, Genomics Research Center, Academia Sinica
- ↑ "Novazyme Pharmaceuticals Receives Orphan Drug Designation for Pompe Disease Therapy". International Pompe Association. 2000. Retrieved 2009-11-21.
- ↑ Boe, Grethe (2009). "Crowley: The Untold Story". International Pompe Association. Retrieved 2009-11-21.
- ↑ "Specialty Care" (PDF).
- ↑ "Genzyme". Archived from the original on 24 May 2015. Retrieved 18 May 2015.