R&D
Research & Development
Osteogenesis Imperfecta
Osteogenesis Imperfecta(OI)
OI
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It is a rare genetic disease in which people have congenitally low bone density, which causes bones to become weak and easily break or fracture.
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This disease is caused by a mutation in a specific gene.
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The reason bones become weak is because the collagen that makes up bones is lacking or defective.
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Osteogenesis imperfecta is broadly classified into four types (I, II, III, and IV).
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The presentation varies depending on the severity of the disease (some patients may experience only a few fractures in their lifetime, while others may experience hundreds of fractures).
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Particularly the type that occurs in infancy is fatal.
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Cause
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It is caused by mutations in two genes, COL1A1 and COL1A2, which contain the production information for type 1 collagen.
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Collagen is an important protein that makes bones strong.
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Treatment
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It is a rare disease for which there is currently no approved treatment.
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Bisphosphonate drugs are used off-label, but have poor efficacy and serious side effects.
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Bisphosphonate (osteoporosis treatment)
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Symptoms
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Most patients with osteogenesis imperfecta have fragile bones, and approximately 50-65% have hearing loss.
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Depending on the type, it can range from mild to severe.
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Ex) Easily broken bones, bone growth disorders, bone deformities, hearing loss, dental problems, skin problems, blue sclera, etc.
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Type I - Mildest type
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Some children may experience symptoms of blue sclera, muscle and joint pain due to loose joints.
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Children with this type may have an increased risk of fractures during childhood.
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Type II – the most severe type
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Causes death.
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Infants are usually born with many broken bones.
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The skull is so soft that the brain is not protected from the pressure placed on the head at birth.
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These infants have short arms and legs and blue sclera.
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Infants with this type may die before birth or within the first few days or weeks of life.
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Type III - The most severe type that does not cause death
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Children of this type are very small, experience spinal curvature and frequent fractures.
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This type often causes a fracture of the bone after a very minor injury, usually when the child begins to walk.
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These children also have a large skull and triangular face due to overgrowth of the head and poor development of the facial bones.
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Breast deformities are common. The color of the sclera is different.
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Type IV - Varies greatly in severity, may cause deformities
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Children with this type break bones easily during prepubescent childhood. The sclera is usually white.
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Children is short.
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Children with this type may benefit from treatment and have a high survival rate.
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Diagnosis
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X-ray
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DNA test
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Blood test
Prevalence
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Approximately 1 in 30,000 people worldwide
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US approximately 20,000 to 50,000 people
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China approximately 200,000 people
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Korea approximately 5,000 people
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Market Size
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Estimated $722.8 million in 2023 (expected to continue rising)
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Expected to be $850.5 million in 2030, CAGR 2.4% between 2023 and 2030
Rett Syndrome
Rett Syndrome(RTT)
RTT
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Rett syndrome is a rare neurodevelopmental disorder that occurs almost exclusively in girls and is caused by a genetic problem that affects development after the first six months of normal development.
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It is caused by a gene mutation.
Cause
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It is known to be a mutation in the MeCP2 gene, which specifies the MeCP2 protein (Methyl-CpG binding protein 2) on the X chromosome (Xq28).
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The protein is involved in the inactivation of the or make it absent. They appear to develop normally during early infancy, before these elements become necessary for brain development. However, without this element, certain parts of the brain remain developmentally immature. For this reason, the child appears to develop normally during the first few months of life.
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Treatment
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Treatment approved by the FDA - Daybue (tropinetide) (2023.04.10)
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It is accompanied by severe side effects such as diarrhea and vomiting.
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Symptoms
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They have relatively normal development from 6 to 18 months of age and then regress.
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Loss of language and motor skills.
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They have a characteristic hand syndrome that involves repeated hand-washing-like motions.
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Symptoms may include EEG abnormalities, seizures, breathing difficulties, spinal deformities, and growth retardation.
Diagnosis
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Brain MRI scan
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DNA test
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Electroencephalogram
Prevalence
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Approximately 1 in 10,000 people worldwide
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USA approximately 20,0000 people
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Europe approximately 20,000 people
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Japan approximately 8,000 people
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Korea approximately 3,000 people
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Market Size
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Estimated $223.01 million in 2021
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Expected to be $512.03 million in 2030, CAGR 10.23% from 2023 to 2029