—Rare diseases—
rare diseases
Overview
Treatment methods
Prospects
There are more than 7,000 rare diseases in the world, of which only 5% of rare diseases can be treated with drugs. There are more than 20 million patients with rare diseases in my country. Diagnosis is difficult, there are few treatment methods, and there are few available drugs. Most drugs for rare diseases are marketed in China. After many years of lag compared with foreign countries, the problem of high drug prices after listing is a common dilemma encountered by rare disease groups.
Rare disease treatments
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Because of the breadth and diversity of rare diseases, all treatments are have potential applicability. Most of the currently approved orphan drugs are small molecule drugs. Other drugs include monoclonal antibodies, enzyme replacement therapy (ERT), stem cell therapy, and innovative therapies based on the next generation of genetic defects. The following are commonly used treatments for rare diseases.
01
small molecule therapy
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The vast majority of rare disease treatments are small molecule drugs, which are the research focus of most mainstream disease indications in the entire industry. Particularly in rare diseases such as neurological disorders, specific distribution characteristics or intolerance to other modalities (such as the use of small molecule migluta for metabolic disorders with poor tolerance to ERT) suggest that small molecule options are best suited. The origin of small-molecule drugs currently approved as therapeutic drugs for rare diseases, including phenotypic screening, high-throughput single-target screening and natural product semi-synthesis and drug repurposing. Approved small molecule treatments such as pulmonary arterial hypertension, the vasodilator prostaglandin derivative epoprostenol, and endothelin receptor antagonists such as bosentan.
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antibody therapy span>
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Therapeutic monoclonal antibodies are large heterodimeric molecules composed of heavy and light chains that provide a refined selection of their intended biological targets sex. Monoclonal antibodies do not easily cross the blood-brain barrier or cell membranes, making them suitable for extracellular non-central targets. Originally mouse monoclonal antibodies were made using hybridoma technology, but have been superseded by other versions due to toxicity and different immune responses. Chimeric mAb drugs include infliximab, a drug that targets tumor necrosis factor and reduces intestinal inflammation in Crohn’s disease.
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protein therapy span>
or depleted protein. Usually this is an endogenous protein that promotes cellular production and human growth hormone in conditions such as growth hormone disorders and pediatric growth disorders. as Amgen’s Neupogen, a granulocyte colony-stimulating factor analog, is used to stimulate neutropenia in patients with neutropenia.
04
Enzyme replacement therapy< /span>
Enzyme replacement therapy (ERT) is a regular Patients are injected with a natural or recombinant enzyme to relieve the deficiency or dysfunction of the endogenous enzyme. Lysosomal storage disorders are particularly suitable for this type of therapy because they are caused by a deficiency of a single enzyme and respond well to ERT. Initially, replacement enzymes were isolated from human organs, but enzyme production was often low, and recombinant versions were eventually developed. Successful ERT applications include Fabry disease, Gaucher disease, and Hunter syndrome, among others.
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Cell Therapy< /p>
pluripotent stem cells are derived from adult human cells and can be induced (induced pluripotent stem cells) With the properties of human embryonic stem cells, this treatment could have a huge impact on the study of rare diseases. Stem cells have the unique ability to continuously renew themselves and can be applied to the supply of human primary cell types for screening purposes, to repair a rare disease caused by a mutated system, re-transplanted back into the patient or directly against disease-causing cell types (eg cancer stem cells). There have been several reports on the production of induced pluripotent stem cells from patients with rare diseases, including those with Gaucher disease, DMD, Huntington’s disease, and Hurler syndrome, but no clinical trials of induced pluripotent stem cells have been conducted to date. However, stem cell trials using stem cells from the bone marrow are currently underway for some rare diseases, such as retinitis pigmentosa, age-related macular degeneration and sickle cell disease. Another possible approach is to apply genetically altered stem cells to a combination of gene and cell therapy, enabling components of both technologies to work. For example, altered stem cells have been used to express factor VIII in a mouse model of hemophilia.
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Gene Therapy span>
Diseases caused by changes in single or multiple genes , making it technically attractive for genetic or cell-based therapies to correct dysfunctional genes. Several innovative gene therapies have been developed for rare diseases, which at the highest level involve the use of viral vectors to deliver DNA cassettes containing the deleted gene to be expressed or antisense or interfering RNA molecules to silence overexpressed genes. In many respects, the viral vector delivery system is critical to the success of this approach. The virus of choice was adeno-associated virus (AAV), a small human parvovirus. They are single-stranded DNA viruses that can be delivered into dividing and non-dividing cells at high titers and integrate very efficiently into the host genome. Best of all, they are safe, non-pathogenic, and produce effects that last for years. Gene therapy trials have yielded promising results in diseases including age-related macular degeneration, glioblastoma, Leber congenital amaurosis and Duchenne muscular dystrophy.
Outlook
Rare disease research has entered an encouraging era. Multiple companies, including Big Pharma, are now involved in drug discovery and their attention is focused more than ever on the field of rare diseases. The increased level of investment, while not guaranteeing a successful drug product, will certainly increase the chances of innovative treatments for rare diseases in the future.
Reference Source:
David C. Pryde and Stephen C. Groft, Chapter 1:Definitions, History and Regulatory Framework for Rare Diseases and Orphan Drugs , in Orphan Drugs and Rare Diseases, 2014, pp. 3-31
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Source: Rare Disease Organization Development Network
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