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Ataluren
Ataluren, sold under the brand name Translarna, is a medication for the treatment of Duchenne muscular dystrophy. It was designed by PTC Therapeutics. Medical use Ataluren is used in the European Union to treat people with Duchenne muscular dystrophy who have a nonsense mutation in the dystrophin gene, can walk, and are more than five years old. Contraindications People who are pregnant or breast feeding should not take ataluren. Adverse effects More than 10% of people taking ataluren in clinical trials experienced vomiting; more than 5% experienced diarrhea, nausea, headache, upper abdominal pain, and flatulence; between 1% and 5% of people experienced decreased appetite and weight loss, high levels of triglycerides, high blood pressure, cough, nosebleeds, abdominal discomfort, constipation, rashes, pain in their arms, legs, and chest muscles, blood in their urine, urinary incontinence, and fever. Interactions Aminoglycosides should not be given to someone taking ataluren, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nonsense Mutation
In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a ''nonsense codon'' in the transcribed mRNA, and in leading to a truncated, incomplete, and usually nonfunctional protein product. The functional effect of a nonsense mutation depends on the location of the stop codon within the coding DNA. For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected. As nonsense mutations leads to premature termination of polypeptide chains; they are also called chain termination mutations. Missense mutations differ from nonsense mutations since they are point mutations that exhibit a single nucleotide change to cause substitution of a different amino acid. A nonsense mutation also differs from a nonstop mutation, which is a point mutation that removes a stop codon. About 10% of patients facin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms. The disorder is X-linked recessive. About two thirds of cases are inherited from a person's mother, while one third of cases are due to a new mutation. It is caused by a mutation in the gene for the protein dystrophin. Dystrophin is important to maintain the muscle fiber's cell membrane. Genetic testing can often make the diagnosis at birth. Those affected also have a high level of creatine kinase in their blood. Although there is no know ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lee Sweeney
H. Lee Sweeney is an American scientist who studies muscle. Education and career He received his undergraduate degree in biochemistry from Massachusetts Institute of Technology in 1975 and his PhD from Harvard in physiology and biophysics in 1984. He then spent a year as research instructor in physiology at the University of Texas Southwestern Medical School, and then obtained an appointment as an assistant professor at the University of Texas at Austin. He joined the faculty of the University of Pennsylvania in 1989, became chair of the department of physiology in 1999, became founding director of the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center in 2005. and eventually obtained an endowed chair and became director of the Penn Center for Orphan Disease Research and Therapy, which was founded in 2012. He left Penn and joined the faculty of University of Florida College of Medicine in 2015, where he became the Thomas H. Maren M.D. Eminent Scholar Chair in Pharma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biostrophin
Biostrophin is a drug which may serve as a vehicle for gene therapy, in the treatment of Duchenne and Becker muscular dystrophy. As mutations in the gene which codes for the protein dystrophin is the underlying defect responsible for both disorders, biostrophin will deliver a genetically-engineered, functional copy of the gene at the molecular level to affected muscle cells. Dosage, as well as a viable means for systemic release of the drug in patients, is currently being investigated with the use of both canine and primate animal models. Biostrophin is being manufactured by Asklepios BioPharmaceuticals, Inc., with funding provided by the Muscular Dystrophy Association. See also Other drugs for Duchenne muscular dystrophy * Ataluren Ataluren, sold under the brand name Translarna, is a medication for the treatment of Duchenne muscular dystrophy. It was designed by PTC Therapeutics. Medical use Ataluren is used in the European Union to treat people with Duchenne muscular d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rimeporide
Rimeporide is an experimental drug for the treatment of Duchenne muscular dystrophy, being developed by the EspeRare foundation. it has been granted orphan drug status by the European Medicines Agency. Mechanism of action The substance blocks an ion pump called sodium–hydrogen antiporter 1. While the exact mechanism is unknown, it is speculated that inhibition of this pump reduces pH, sodium and calcium overload in cells of patients with Duchenne muscular dystrophy. History Rimeporide was designed as a treatment for chronic heart failure. It was tested in seven Phase I studies clinical trials in patients with congestive heart failure and some degree of renal insufficiency. Subsequently, the drug was licensed to EspeRare, a Swiss nonprofit organisation that aims at repositioning drugs for rare diseases. , the substance has demonstrated efficacy in several animal models of Duchenne muscular dystrophy. It has also been recently tested in young boys with Duchenne muscular Dystroph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lumacaftor
Lumacaftor (VX-809) is a pharmaceutical drug that acts as a chaperone during protein folding and increases the number of CFTR proteins that are trafficked to the cell surface. It is available in a single pill with ivacaftor; the combination, lumacaftor/ivacaftor (brand name ''Orkambi''), is used to treat people with cystic fibrosis who are homozygous for the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the defective protein that causes the disease.Lumacaftor label Last updated July 2015. Check index pag [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PTC Therapeutics
PTC Therapeutics is a US pharmaceutical company focused on the development of orally administered small molecule drugs and gene therapy which regulate gene expression by targeting post-transcriptional control (PTC) mechanisms in orphan diseases. In September 2009, PTC entered into an agreement with Roche for the development of orally bioavailable small molecules for central nervous system diseases. In 2020PTC announced the FDA approval of Evrysdi™(risdiplam) for the treatment of spinal muscular atrophy (SMA) in adults and children 2 months and older, in partnership with the SMA Foundation and Roche. PTC acquired the Bio-e platform in 2019The Bio-e platformutilizes expertise in electron-transfer chemistry to modulate key biological processes beyond the reach of current drug development approaches. The lead compounds from the Bio-e platform, PTC743 and PTC857, target the enzyme 15-lipoxygenase – a key enzymatic hub that regulates the inflammation and oxidative stress that un ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ivacaftor
Ivacaftor is a medication used to treat cystic fibrosis in people with certain mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (primarily the G551D mutation), who account for 4–5% cases of cystic fibrosis. It is also included in combination medications, lumacaftor/ivacaftor, tezacaftor/ivacaftor, and elexacaftor/tezacaftor/ivacaftor which are used to treat people with cystic fibrosis. Ivacaftor was developed by Vertex Pharmaceuticals in conjunction with the Cystic Fibrosis Foundation and is the first medication that treats the underlying cause rather than the symptoms of the disease. It was approved by the U.S. Food and Drug Administration (FDA) in January 2012. It is one of the most expensive drugs, costing over per year, which has led to criticism of the high cost. The combination drug lumacaftor/ivacaftor was approved by the FDA in July 2015. Cystic fibrosis is caused by any one of several defects in the CFTR protein, which regulates fl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eteplirsen
Eteplirsen (brand name Exondys 51) is a medication to treat, but not cure, some types of Duchenne muscular dystrophy (DMD), caused by a specific mutation. Eteplirsen only targets specific mutations and can be used to treat about 14% of DMD cases. Eteplirsen is a form of antisense therapy. Eteplirsen was developed by Steve Wilton, Sue Fletcher and colleagues at the University of Western Australia and commercialized by Sarepta Therapeutics. After a controversial debate surrounding the drug's efficacy, during which two FDA review panel members resigned in protest, eteplirsen received accelerated approval from the US Food and Drug administration in late 2016. The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) refused to authorize the use of eteplirsen. Adverse effects The following adverse events were observed in at least 10% of people who received eteplirsen in trials: vomiting, contusion, excoriation, arthralgia, rash, catheter site pain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Benzoic Acids
Benzoic acid is a white (or colorless) solid organic compound with the formula , whose structure consists of a benzene ring () with a carboxyl () substituent. It is the simplest aromatic carboxylic acid. The name is derived from gum benzoin, which was for a long time its only source. Benzoic acid occurs naturally in many plants and serves as an intermediate in the biosynthesis of many secondary metabolites. Salts of benzoic acid are used as food preservatives. Benzoic acid is an important precursor for the industrial synthesis of many other organic substances. The salts and esters of benzoic acid are known as benzoates . History Benzoic acid was discovered in the sixteenth century. The dry distillation of gum benzoin was first described by Nostradamus (1556), and then by Alexius Pedemontanus (1560) and Blaise de Vigenère (1596). Justus von Liebig and Friedrich Wöhler determined the composition of benzoic acid. These latter also investigated how hippuric acid is related ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Medicines Agency
The European Medicines Agency (EMA) is an agency of the European Union (EU) in charge of the evaluation and supervision of medicinal products. Prior to 2004, it was known as the European Agency for the Evaluation of Medicinal Products or European Medicines Evaluation Agency (EMEA).Set up by EC Regulation No. 2309/93 as the European Agency for the Evaluation of Medicinal Products, and renamed by EC Regulation No. 726/2004 to the European Medicines Agency, it had the acronym EMEA until December 2009. The European Medicines Agency does not call itself EMA either – it has no official acronym but may reconsider if EMA becomes commonly accepted (secommunication on new visual identity an). The EMA was set up in 1995, with funding from the European Union and the pharmaceutical industry, as well as indirect subsidy from member states, its stated intention to harmonise (but not replace) the work of existing national medicine regulatory bodies. The hope was that this plan would not onl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
