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Jan 10, 2018 in Medicine

Rare Diseases

The main focus on this paper is to give an in depth analysis on rare diseases. A research indicating the prevalence in both Europe and the US indicates that in Europe, the ratio of rare diseases occurrence stands at 1:2000 people; while in the United States there can be no more than 200,000 Americans affected at the same time. Essentially, rare diseases affect approximately 25 to 30 million Americans. Of the cases found, 80% of are genetically caused and roughly 50% of those cases affect children. Most of the diseases are genetic and can be traced to a mutation on a single gene, although patients may have the disease for years before detection or manifestation. In addition, a misdiagnosis may occur once it is detected thus preventing the provision of proper treatment. Since the majority of cases are known to be genetic, it is common that a disease will be present in the succeeding generations; although as we will discuss with Duchenne Muscular Dystrophy, it may only affect a single gender while the other may simply turn out as a carrier.

The diseases to be discussed are cystic fibrosis, sickle cell anemia, and Deuchenne muscular dystrophy. Cystic fibrosis is a disease that causes the excess accumulation of thick mucus that can harm different organs of the body. Usually, a moderate amount of mucous is necessary to act as a layer of protection to the organ and prevent any acidic substances from burning the tissue as well as capturing foreign particles. Although if it adds up it can damage the organ systems; the most common side effect is damage to the respiratory system and prolonged digestive system problems. As a result an excess can block the airway causing breathing and the lungs can develop bacterial infections eventually the damage will cause the tissue affected to become scarred. Another organ that can also be affected is the pancreas which could lead to further complications because it is important for it to produce insulin or digestive enzymes. If blood sugar levels are not adequately kept diabetes can be developed; and if not enough digestive enzymes are produced, malnutrition will also occur. Surprisingly cystic fibrosis is the least common rare disease amongst minorities affecting 1 in 17,000 African Americans and 1 in 31,000 Asian Americans, but affects 1 in 2,500 or 3,500 Caucasian newborns.

Sickle cell anemia is the most common progression from sickle cell; the anemia aspect refers to the fact that blood has a lowered number of red blood cells. Normally red blood cells are important to carry hemoglobin which carries oxygen throughout the body. A healthy red blood cell is doughnut shaped but without a hole; although, a sickle cell is shaped like a crescent which does not allow for the efficient carrying of oxygen. To further complicate matters, the shape causes them to get stuck in blood vessels potentially causing organ damage to the nutrition and oxygen deprived extremity. Also a sickle cell blood cell can live 10 to 20 days while a normal blood cell lives 120 days; and it is the bone marrow's job to replace them, but if they are dying faster than they are being made and replaced the body will not be able to adequately get rid of carbon dioxide so that oxygen can be acquired. In order to have the disease both parents must have to provide an affected gene to the offspring, if only one parent gave it off then the child will be known as a carrier and will not be affected by the disease.

Duchenne muscular dystrophy is the progressive loss of muscle tissue which starts in the lower limbs. It is sex-linked which predominantly affects males in the X chromosome; within the X chromosome there is a protein called dystrophin, and if it cannot make the protein muscles will begin to deteriorate. The reason it virtually does not affect females is because they have XX sex chromosomes as opposed to males who have an XY sex chromosome; the extra X acts as a backup to produce dystrophin if the other cannot. The disease affects roughly 1 in 3500 male births worldwide and it has to be genetically passed on from generation to generation. The symptoms become noticeable around the age of 1 through 6 as the child progressively losses muscle and is replaced with fat and connective tissue. Slowly the child will lose the ability of walking, at one point needing braces for support, but eventually will end up in a wheelchair.

As of right now there is no cure set apart for Cystic Fibrosis but there are treatments that can help reduce the symptoms and help reduce other complications. On top of the treatment it is highly recommended that close monitoring and early aggressive intervention be done in order to manage Cystic Fibrosis. The goal of maintaining treatment for Cystic fibrosis is first to help prevent and control lung infections, secondly loosening and removing mucus from the lung , thirdly preventing and treating intestinal blockage and to provide adequate nutrition. The kinds of drug that's been approved by the FDA to help in treatment of Cystic Fibrosis are antibiotics that help treat and prevent infections, mucus - thinning drugs are to help the patient cough up the mucus which improves lung function. A bronchodilator is used to help keep airways open by relaxing the muscles around the bronchial tubes; and an oral pancreatic enzyme is used to help the digestive tract absorbs nutrients. As far sickle cell anemia, the treatment includes antibiotic, pain reliever medication, Hydroxurea, assessing stroke risk, and immunization to prevent certain infections more prominent in association with the disease.

Duchenne muscular dystrophy is a group of genetic diseases in which muscle fiber are easily to get damage. People who are diagnosed with muscular dystrophy they usually need a wheelchair. As there is currently no cure for muscular dystrophy but researchers from the gene therapy are trying to come up with a treatment to stop the progression of the disease. There is a current treatment that is being designed to help prevent or reduce deformities in the joints. Some of the treatments include Corticosteroids such as prednisone that helps improve muscle strength and help delay the progression of certain types of muscular dystrophy, therapy, range of motion exercise, mobility aids, breathing assistance (Gher).

As a result of the orphan disease affecting such a small amount of individuals, pharmaceutical companies take a large risk in producing and researching orphan drugs. An orphan drug is a pharmaceutical agent that has been developed specifically to treat a rare medical condition. Sometimes the research could be difficult for the specific illness and when going through the regulated phases, finding enough participants for the clinical trials that have the disease can be a hard task. Another issue these companies need to address is if there are enough willing and credible experts on these drugs to conduct the clinical trials and participate on review boards. Despite these daunting tasks, looking at a report performed by PhRMA we can see that there has been a steady increase in research that is bringing new medicines to the clinical trial stage and beyond. PhRMA's first report on the subject in 1989 found 133 medicines in development for rare diseases. The number jumped to 176 in 1991, to 303 in 2007 and to 460 today. The reason there has been these increases is due in part to government incentives.

The Orphan Drug Act is meant to encourage pharmaceutical companies to develop drugs for diseases that have a small market. These drugs are defined as those for a disorder affecting fewer than 200,000 people in the United States. In accordance to the law, companies that develop such a drug may sell it without competition for seven years, and may get clinical trial tax incentives. Other benefits include tax incentives, enhanced patent protection and marketing rights, clinical research financial subsidization. These financial incentives, such as extended exclusivity periods, are all intended to encourage the development of drugs which might otherwise lack a sufficient profit motive. The ODA is universally acknowledged to be a success. Before ODA only 38 drugs were approved in the USA specifically to treat orphan diseases. In the USA, from 1983 to 2004, a total of 1129 different orphan drug designations have been granted by the Office of Orphan Products Development and 249 orphan drugs have received marketing authorization. The FDA also has their own branch that deals with rare diseases. It is called the Office of Orphan Products Development which has a specific mission. That is to advance the evaluation and development of products that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions. OOPD provides incentives for sponsors to develop products for rare diseases as well. The program has successfully enabled the development and marketing of more than400 drugs and biologic products for rare diseases since 1983. In contrast, fewer than 10 such productssupported by industry alone came to market between 1973 and 1983. This goes to show how effective this office of the FDA has been. They also have their own unique grant programs. The Orphan Products Grants Program provides funding for clinical research that tests the safety and efficacy of drugs, biologics, medical devices and medical foods in rare diseases or conditions.The Pediatric Device Consortia Grant provides funding to develop nonprofit consortia to facilitate pediatric medical device development. These incentives give the initiative to those drug companies that wonder if research in rare diseases is a worthy endeavor.

Fernanda notes that the cause of these rare diseases is still unknown but nonetheless it has been established that many of these diseases are traced back to mutations in a single gene. A lot of these genetic mutations can be passed from generation to generation, which explains why these rare diseases run in families. Although genetic mutations have been found to be a cause of these diseases it is not the only reason this occurs. It has been found that smoking, exposure to chemicals as well as diet a person has can be factors of these rare diseases. These problems can either cause a disease or interact with genetic factors and increase the severity of the disease.

For the most part, rare diseases are chronic and get worse with time thus causing deterioration to an individual's health. In one hand, a lot of these rare diseases can be detected at birth or at a very early age. Some examples of rare diseases whose signs are manifested at childhood include; spinal muscular atrophy, neurofibromatosis, osteogenesis imperfect, chondrosysplasia or Rett syndrome, etc. In the other hand, fifty percent of rare diseases develop or are identified later in life during adulthood such as Huntington diseases, Chron disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, and Kaposi's sarcoma or thyroid cancer.

Unfortunately, there is no permanent cure for rare diseases but with proper care and treatment, people's quality of life can be improved to enable them live longer. Due to the insufficient scientific and medical knowledge on these cases, many people never find a diagnosis for their disease or the proper medical care to improve their health conditions. People with rare diseases encounter several challenges in terms of finding diagnosis, crucial medical data on their conditions, as well as getting the proper medical support from the right medical professionals. Most of the times those affected depend on others to be able to function on a day-to-day basis. People affected by rare diseases are also more vulnerable psychologically, socially, economically, and culturally.

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