Achondroplasia - Epidemiology Forecast - 2032

This ‘Achondroplasia - Epidemiology Forecast - 2032' report delivers an in-depth understanding of achondroplasia, historical and forecasted epidemiology, and the achondroplasia trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Achondroplasia Understanding

Achondroplasia means without cartilage formation and is categorized as a physeal (growth plate) dysplasia. It is a genetic disorder characterized by abnormal bone development, resulting in dwarfism and distinct physical features. It follows an autosomal dominant inheritance pattern, where a single copy of the mutated gene is sufficient to cause the condition. It is associated with increased mortality in early childhood, otolaryngology problems later in childhood, and an increased risk of obesity into adulthood. Affected individuals can also develop joint laxity, thoracolumbar kyphosis (TLK), and spinal stenosis that may progress and contribute to morbidity as an adult.

It is caused by a change in the fibroblast growth factor receptor 3 (FGFR3) gene, which slows down bone formation in the cartilage of the growth plate. The FGFR3 gene provides instructions for producing a protein that regulates bone growth during development.

People with achondroplasia are characterized by short stature, macrocephaly with frontal bossing (broad forehead), midface hypoplasia (small nasal bridge), foramen magnum stenosis (FMS) (the base of the skull is endochondral in origin), rhizomelia (the proximal portion of the limb is shorter than distal portion), brachydactyly (short digits) with a prominent gap between the ring and middle fingers (known as a trident hand). Radial head subluxation, posterior bowing of the humerus, TLK, lumbar hyperlordosis, and genu varum (bowed legs) are also common.

Achondroplasia Diagnosis

Achondroplasia is diagnosed through physical examination, medical history, and genetic testing to identify the specific FGFR3 mutation. Further, medical management addresses complications such as spinal issues and breathing difficulties. Genetic counseling recommendations for families affected by achondroplasia to understand the inheritance pattern and potential risks for future generations are helpful. Individuals with achondroplasia have a 50% chance of passing the mutated gene to their offspring. Further, when one parent has achondroplasia (heterozygous) and the other parent does not carry the mutation, each child has a 50% chance of inheriting the disorder. Being an autosomal dominant disorder, achondroplasia does not skip generations and is present in each generation with affected individuals.

Several diagnostic guidelines have also been developed by different organizations in the 7MM, such as the International Consensus Statement on the Diagnosis, The American Academy of Pediatrics (AAP): Health Supervision for People With Achondroplasia, The First European Consensus on Principles of Management for Achondroplasia, The Diagnostic Criteria for Achondroplasia in Japan, and others.

Achondroplasia Epidemiology Perspective

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by total diagnosed prevalent cases of achondroplasia and gender-specific diagnosed prevalent cases of achondroplasia, in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2019 to 2032.

Achondroplasia Detailed Epidemiology Segmentation

• According to the publisher's estimates, in 2022, there were nearly 28,613 diagnosed prevalent cases of achondroplasia in the 7MM. These are expected to change by 2032.
• The US accounted for approximately 14,496 diagnosed prevalent cases of achondroplasia in 2022, and these cases are projected to rise by 2032.
• Among EU4 and the UK, France accounted for the highest number of achondroplasia cases, i.e., nearly 3,876, followed by Germany with 2,718 cases, the UK with 2,077 cases, and others.
• According to the publisher analysis, achondroplasia occurs slightly more in males than females in the US. In 2022, approximately 51% of males and 49% of females were diagnosed with achondroplasia in the US. The gender-specific cases are expected to rise by 2032 in the US.
• In the EU4 and the UK, there were approximately 5,931 female cases and approximately 4,992 male cases of achondroplasia in 2022. These cases are expected to change during the forecast period.
• According to the publisher's epidemiology model estimates, in 2022, there were around 3,194 diagnosed prevalent cases of achondroplasia in Japan, which are expected to decrease due to the declining population of Japan during the study period.
• As per the analysis, Japan reported approximately 56% female cases and 44% male cases of achondroplasia cases in 2022, which is expected to change during the forecast period.

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 7MM historical and forecasted patient pool covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.
• The report assesses the disease risk and burden of achondroplasia.
• The report helps recognize the growth opportunities in the 7MM concerning the patient population.
• The report provides the segmentation of the disease epidemiology for the 7MM, total diagnosed prevalent cases of achondroplasia, and gender-specific diagnosed prevalent cases of achondroplasia from 2019 to 2032.

Report Highlights

• Ten years forecast of Achondroplasia
• The 7MM coverage
• Total Diagnosed Prevalent Cases of Achondroplasia
• Gender-specific Diagnosed Prevalent Cases of Achondroplasia

Key Questions Answered

• What are the disease risks and burdens of achondroplasia?
• What is the historical achondroplasia patient pool in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?
• What would be the forecasted patient pool of achondroplasia at the 7MM level?
• What growth opportunities will be across the 7MM concerning the patient population with achondroplasia?
• Which country would have the highest occurrence of achondroplasia among the countries mentioned above during the forecast period (2023-2032)?
• At what CAGR is the population expected to grow across the 7MM during the forecast period (2023-2032)?

Reasons to Buy

Achondroplasia report will allow the user to:

• Develop business strategies by understanding the trends shaping and driving the 7MM achondroplasia epidemiology forecast.
• The achondroplasia epidemiology report and model were written and developed by Master's and PhD epidemiologists.
• The achondroplasia epidemiology model developed by the publisher 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

Geographies Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2019-2032