Osteogenesis Imperfecta Disease Treatment Market Outlook, H2 2018: Ken Research

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According to study, “Osteogenesis Imperfecta – Pipeline Review, H2 2018” some of the major companies that are working in the osteogenesis imperfecta are Amgen Inc, Bone Therapeutics SA, Genzyme Corp, Mario Biopharma Group Plc, Mesentech Inc, SOM Biotech SL.

OI is classified into many types based on clinical signs. Type 1 is the mildest type of OI. In type 1 includes triangular face, possible brittle teeth, minimal bone deformity, possible hearing loss, loose joint & muscle weakness, bones predisposed to fracture, a tendency toward spinal curvature etc. Type 2 is the most severe form of OI: it includes small stature, whites of eyes tinted, dominant autosomal, many times fatalities caused by deformed drugs. Type 3 is the most severe form of OI: it is defined by motor skill heights, motor skill delays, sunken or protruding chest wall, and very short height. Additionally, type 4 is similar to type 1 but with mild to moderate bone deformity: it includes scoliosis, white or blue sclera, large head, short height, and easy burnishing etc.

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause, also called as “brittle bone disease”. It is caused by one of several genes that aren’t working properly. It can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI can range from mild to severe. Some other names of OI are lobster disease, blue-sclera syndrome and fragile bone disease. Some symptoms of OI are triangular –shaped face, short stature, hearing loss, brittle teeth, breathing problems and bone of deformities such as bowed legs of scoliosis. Some other symptoms of more severe forms of OI may include bowed legs & arms, kyphosis and scoliosis etc.

OI is one of the most common skeletal dysplasias and generalized disease of connective tissue. It may manifest itself with blue sclerae, hearing loss, scoliosis, joint laxity, barrel chest, triangular facies, macrocephaly, constipation & sweating, defective definition, limb deformities, fractures and growth retardation etc. It affects both bone quality and bone mass.

OI can affect various internal organs, leading to many major and secondary problems, which are lung problems, neurological problems, cardiac problems, thalassemia, abnormal blood coagulation, periodontitis, gastric function, basilar impression, kidney stones, vision, hearing, delayed healing, and bone mass & bone deformity etc.

There are some diagnostic methods are included in OI, which are histomorphometry, bone density measurement (BMD), ultrasound, radiography of the uterus, collagen analysis & genetic diagnosis. Histomorphometry is used for quantitative analysis of bone architecture, which provides valuable information on the amount of bone and its cellular activity. BMD test can measure bone density at the patient’s hip and spine. Ultrasound can be used to examine the fetal skeleton for bowing, fractures, shortening, or other bone abnormalities consistent with OI. Radiography of the uterus technique can detect the wormian bone and a single skull bone surrounded by sutures. Collagen analysis & genetic method is invasive and can cause injury to the infant or result in premature delivery and the reliability of genetic testing has relied on the development of new techniques such as electrophoresis and multiplex ligation-dependent probe amplification. Some other differential diagnoses are achondroplasia, glucocorticoid therapy & Cushing syndrome, homocystinuria, McCune- Albright syndrome, osteopetrosis & psteoporosis, rickets, scurvy, and Wilson disease.

There are many treatments are involved in OI such as surgical treatment, bisphosphonates, neridronate, teriparatide, and denosumab. Surgical treatment is mainly performed to correct deformities and to reduce the bone brittleness as the result of bad bowing and to improve the physical condition of the individual. Bisphosphonates drugs are responsible for reducing vertebral compressions and some long bone fractures. Neridronate can be administered both intravenously and intramuscularly, providing a useful system for administration in-home care for OI. Teriparatide drug decreases vertebral and non- vertebral fractures in post-menopausal women with osteoporosis. Denosumab decreases bone resorption, increases bone density, and reduces fractures in women with postmenopausal osteoporosis and also reduce the risk of bone-related events in patients with cancer that has spread to the bone. Some therapies are also used in the management of OI, which is; physical therapy, pharmacologic therapy, cell-based therapy, gene therapy, and stem cell transplantation therapy.

In recent years, many new genetic causes have been identified. In 2018, most genes cases of OI are COL1A1, COL1A2, CRTAP, and P3H1. In 2018, according to the investigation of many trials, teriparatide is used to increase bone strength as estimated by FE analysis in adults with mild OI. In upcoming years, gene therapy may be a possible future treatment option for severe OI.

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