Achondroplasia Epidemiology Forecast

DelveInsight’s ‘Achondroplasia – Epidemiology Forecast – 2034’ report delivers an in-depth understanding of Achondroplasia, historical and forecasted epidemiology, and the trends in the United States and Japan.

Geographies Covered

• The United States
• Japan

Study Period: 2021-2034

Achondroplasia Understanding

Achondroplasia is a rare genetic bone growth disorder that results in marked short stature (dwarfism) due to a mutation in the ?broblast growth factor receptor 3 (FGFR3) gene. The mutation leads to a gain-of-function of the FGFR3 gene, which slows down the formation of bone in the cartilage of the growth plate and impairs growth in almost all bones in the body.

The disease has an autosomal dominant inheritance pattern, and the gene is fully penetrant. However, the condition occurs in over 80% of cases due to sporadic or de novo mutation. Thus, a child with achondroplasia can be born to healthy parents without a family history.

The disorder is characterized by distinctive features including short stature, an unusually large head (macrocephaly) with a prominent forehead- frontal bossing, and flat, depressed nasal bridge, short arms and legs, prominent abdomen, and buttocks (due to an inward curve of the spine), and short hands with fingers that assume a “trident” or three-pronged position during extension.

Further, most females with achondroplasia naturally grow to 4 feet 2 inches (128 cm), while males grow to 4 feet 4 inches (134 cm). Achondroplasia does not affect cognitive development, and individuals have an average lifespan of approximately 5–10 years lower than the general population.

Genetics and family history is the most significant risk factor for achondroplasia. However, studies suggest that advanced paternal age, especially fathers aged 35 or older, have a higher probability of an affected offspring. The disorder is non-lethal; however, it can lead to various complications, including apnea, neurological and cardiovascular complications, and others that can increase morbidity and mortality.

Achondroplasia Diagnosis

Diagnosis of achondroplasia is through physical examination, clinical evaluation, and confirmation, which involves a combination of radiological imaging and genetic testing. The clinical and radiological features of achondroplasia are well-characterized and diagnostically helpful in neonates and young infants.

Prenatal diagnosis is possible through genetic testing, allowing parents to make informed decisions about their child’s healthcare. Further, differential diagnosis is done to rule out similar conditions like hypochondroplasia, pseudoachondroplasia, thanatophoric dysplasia, and others.

Continued in the report…..         

Achondroplasia Epidemiology Perspective by DelveInsight

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by total diagnosed prevalent cases of achondroplasia, gender-specific cases of achondroplasia, and age-specific cases of achondroplasia in the US and Japan from 2021 to 2034.

Achondroplasia Detailed Epidemiology Segmentation

• According to DelveInsight’s estimates, in 2022, there were around 17,697 diagnosed prevalent cases of achondroplasia in the US and Japan. These cases are expected to increase by 2034 in the US.
• In 2022, Japan accounted for approximately 3,210 diagnosed prevalent cases of achondroplasia. The total diagnosed prevalent cases of achondroplasia are expected to decrease by 2034.
• As per Delveinsight’s estimates, of the total diagnosed prevalent cases of achondroplasia in the US, around 51% were males, while approximately 49% were females in 2022. These cases are expected to increase during the study period
• In Japan, approximately 1,419 males and nearly 1,791 females were diagnosed with achondroplasia in 2022. These gender-specific cases are expected to decrease by 2034.
• In 2022, the maximum diagnosed prevalent cases of achondroplasia were in the age group 5–10 years, with nearly 3,738 cases, followed by 0–4, with nearly 3,086 cases; 11–15, with 2,434 cases; 16–20, with 1,579 cases, and others. The least diagnosed prevalent cases were in the age group >60, with nearly 246 cases in the US. The cases are expected to increase by 2034.

Scope of the Report

• The report covers a descriptive overview of achondroplasia, explaining its symptoms, pathophysiology, and various diagnostic approaches.
• The report provides insight into the US and Japan’s historical and forecasted patient pool.
• The report assesses the disease risk and burden of achondroplasia.
• The report helps recognize the growth opportunities in the US and Japan concerning the patient population.
• The report describes the disease epidemiology in the US and Japan by total diagnosed prevalent cases of achondroplasia, gender-specific cases of achondroplasia, and age-specific cases of achondroplasia.

Report Highlights

• Ten years forecast of achondroplasia
• The US and Japan coverage
• Total diagnosed prevalent cases of achondroplasia
• Gender-specific cases of achondroplasia
• Age-specific cases of achondroplasia

Key Questions Answered

• What are the disease risks and burdens of Achondroplasia?
• What is the historical achondroplasia patient pool in the US and Japan?
• What would be the forecasted patient pool of achondroplasia at the US and Japan levels?
• What growth opportunities will be across the US and Japan concerning the patient population with achondroplasia?
• Which country would have the highest occurrence of achondroplasia between the US and Japan during the forecast period (2025-2034)?
• At what CAGR is the population expected to grow across the US and Japan during the forecast period (2025-2034)?

Reasons to Buy

Achondroplasia report will allow the user to:

• Develop business strategies by understanding the trends shaping and driving the US and Japan’s achondroplasia epidemiology forecast.
• The achondroplasia epidemiology report and model were written and developed by master and PhD epidemiologists.
• The achondroplasia epidemiology model developed by DelveInsight is easy to navigate, interactive with a dashboard, and epidemiology based on transparent and consistent methodologies. Moreover, the model supports the data presented in the report and showcases disease trends over the 10-year forecast period using reputable sources.

Key Assessments

• Patient Segmentation
• Disease Risk and Burden
• Risk of Disease by Segmentation
• Factors Driving Growth in a Specific Patient Population