Restrictive Cardiomyopathy (RCM) - Epidemiology Forecast - 2034

Key Highlights

• Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affect the development of bones. People with this condition have bones that break easily, often from little or no trauma.
• There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap.
• In 2023, there were about 72,000 prevalent cases of osteogenesis imperfecta across the 7MM.
• In 2023, the US accounted for ~55% of all prevalent cases of OI, while the EU4 and the UK combined for ~35%, and Japan contributed only ~10% in the 7MM.
• In the US, there were ~15,000, ~3,000, ~1,500, ~4,000, and ~5,000 cases of Type I, II, III, IV, and others respectively in 2023.
• Osteogenesis imperfecta is usually diagnosed through a combination of medical history, physical examination, genetic testing, and imaging studies, including X-rays and bone density tests, as well as a skin biopsy to assess collagen structure.
• Genetic testing can identify mutations in the COL1A1 or COL1A2 genes that cause most cases of osteogenesis imperfecta.

This report delivers an in-depth understanding of Osteogenesis Imperfecta, historical and forecasted epidemiology in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Osteogenesis Imperfecta Understanding and Diagnosis Algorithm

Osteogenesis imperfecta (OI), commonly referred to as brittle bone disease, is a genetic disorder primarily characterized by fragile bones that break easily, often with little or no trauma. This condition stems from abnormalities in the synthesis or processing of type I collagen, a crucial protein for bone strength and structure. The severity of OI varies widely, with at least 19 recognized types, ranging from mild forms that may only cause a few fractures in a lifetime to severe types that can lead to multiple fractures even before birth. Other clinical manifestations include blue sclerae, short stature, hearing loss, and dental issues such as dentinogenesis imperfecta. The condition is inherited in various patterns, predominantly autosomal dominant, and its clinical presentation can significantly impact the quality of life for affected individuals.

Diagnosis of osteogenesis imperfecta typically involves a combination of clinical evaluation, family history assessment, and genetic testing. Healthcare providers look for characteristic signs such as frequent bone fractures, blue sclerae, and other skeletal deformities. Imaging studies like X-rays can reveal bone density and structural abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the COL1A1 or COL1A2 genes, which are responsible for most cases of OI. The diagnosis may also involve ruling out other conditions that could mimic OI symptoms. Early diagnosis is crucial for managing the condition effectively and preventing complications associated with bone fragility.

Osteogenesis Imperfecta Epidemiology

The Osteogenesis Imperfecta epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by Prevalent Cases, Diagnosed Cases, Gene-specific, Type-specific Cases of Osteogenesis Imperfecta in the United States, EU4 countries (Germany, France, Italy, Spain) and the United Kingdom, and Japan from 2020 to 2034.

• In 2023, the prevalent population of OI in the United States was found to be ~40,000 cases which, as per the analyst's estimates, is expected to increase in the forecasted period.
• In the US, there were ~20,000 prevalent cases of COL1A1 gene mutation, ~7,000 cases of COL1A2 gene mutation, and cases of other mutations were ~800 in 2023.
• Germany had the highest prevalence of OI among the EU4 and the UK, accounting for ~25% of cases, followed by the France with ~20%, in 2023.
• In 7MM, According to the analysis, in 2023, Japan's contribution to the total treated cases of OI stood at a modest ~10%.

Scope of the Report

• The report covers a segment of key events, an executive summary, and a descriptive overview of Osteogenesis Imperfecta, explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, and disease progression have been provided.
• A detailed review of current challenges in establishing diagnosis and diagnosis rate is provided.

Osteogenesis Imperfecta Report Insights

• Patient Population
• Prevalent Cases, Diagnosed Cases, Gene-specific, Type-specific Cases of Osteogenesis Imperfecta.
• Country-wise Epidemiology Distribution

Osteogenesis Imperfecta Report Key Strengths

• Eleven-year Forecast
• The 7MM Coverage
• Osteogenesis Imperfecta Epidemiology Segmentation

Osteogenesis Imperfecta Report Assessment

• Epidemiology Segmentation
• Current Diagnostic Practices

FAQs

Epidemiology Insights

• What are the disease risks, burdens, and unmet needs of Osteogenesis Imperfecta? What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Osteogenesis Imperfecta?
• What is the historical and forecasted Osteogenesis Imperfecta patient pool in the United States, EU4 (Germany, France, Italy, Spain) and the United Kingdom, and Japan?
• What is the diagnostic pattern of Osteogenesis Imperfecta?
• Which clinical factors will affect Osteogenesis Imperfecta?
• Which factors will affect the increase in the diagnosis of Osteogenesis Imperfecta?

Reasons to buy

• Insights on disease burden, details regarding diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand the change in Osteogenesis Imperfecta cases in varying geographies over the coming years.
• A detailed overview of total diagnosed prevalent cases of Osteogenesis Imperfecta, onset age-specific cases, symptom-specific cases, type-specific cases, and total diagnosed cases of Osteogenesis Imperfecta is included.
• To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis and insights on the treatment-eligible patient pool.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.