Prader-Willi Syndrome - Epidemiology Forecast - 2034

Prader-Willi Syndrome - Epidemiology Forecast - 2034

Key Highlights

In 2023, in the 7MM there were around 25,000 diagnosed prevalent cases of PWS.

Even though roughly half of the patients are diagnosed in the initial years after birth, there is still a significant gap in the identification of actual diagnosed PWS cases worldwide. This gap can be depicted through a 50% diagnosis rate in the US and EU4+ UK, which is already witnessing a YoY growth from the base year. Moreover, this rate is further expected to accelerate due to the launch of its first therapy, increase in genetic testing, and increase in awareness leading to fewer misdiagnosed cases.

Approximately 70% of cases are caused by the deletion of genes on chromosome 15q11-q13; 28% of cases are due to maternal uniparental disomy caused by meiotic non-disjunction. Less than 1% of patients with PWS have deletions of this chromosome related to the imprinting center, which carries a risk of recurrence.

DelveInsight’s “Prader–Willi Syndrome (PWS) – Epidemiology Forecast – 2034” report delivers an in-depth understanding of PWS, historical and forecasted epidemiology trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Geography Covered

The United States

EU4 (Germany, France, Italy, and Spain) and the United Kingdom

Japan

Study Period: 2020–2034

Prader–Willi Syndrome (PWS) Disease Understanding

PWS Overview

PWS is a rare genetic disorder affecting both sexes from birth throughout their lives. It results in low muscle tone, motor developmental delays, and mild to moderate learning difficulties, incomplete sexual development, and emotional and social immaturity, often leading to challenging behaviors. A chronic, insatiable appetite typically develops in childhood, leading to food seeking, stealing, and potentially life-threatening obesity without strict food management and exercise. First described in a 1956 article by Andrea Prader, Heinrich Willi, and Alexis Labhart, PWS was initially noted for obesity, short stature, cryptorchidism, intellectual disability, and early failure to thrive in infants. Now, PWS is recognized as a severe neurodevelopmental disorder characterized by cognitive disabilities, behavioral issues, hyperphagia, and endocrine dysfunctions.

PWS Diagnosis

The journey to diagnosing PWS typically begins with parents noticing early signs such as poor muscle tone and feeding difficulties in infancy. Concerned parents consult a pediatrician, who, upon observing developmental delays and distinctive facial features, refers them to a genetic specialist. The specialist conducts a detailed clinical examination and orders genetic tests, primarily DNA methylation analysis, to confirm PWS. Additional tests like FISH and MS-MLPA may be conducted if necessary. Once diagnosed, the specialist explains the condition, and a multidisciplinary care plan is developed, involving endocrinologists, dietitians, and therapists. Regular follow-ups and interventions are essential to manage symptoms and support the child’s development.

Further details related to diagnosis will be provided in the report…

Prader–Willi Syndrome (PWS) Epidemiology

The PWS epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by the total prevalent cases of PWS, total diagnosed prevalent cases of PWS, age-specific cases of PWS, and PWS cases by Genetic Subtype in the 7MM market covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.

The estimated coverage of PWS patients in country-specific registries is limited. As a result, even when strict criteria are applied during patient recruitment for these registries, they do not provide an accurate representation of the actual diagnosed cases.

Among the 7MM, the US accounted for the highest prevalent cases of PWS in 2023, with around 22,600 cases; these cases are expected to increase during the forecast period.

In 2023, the total number of prevalent cases of PWS in EU4 and the UK was highest in Germany, while the lowest number of cases was in Spain.

According to the estimates, in Japan, it is observed that PWS was most prevalent in the 18-40 years age group, accounting for over 38% of total cases in 2023.

In 2023, among genetic subtype-specific cases of PWS in the US, the paternal microdeletion subtype accounted for the highest proportion, approximately 70% of cases, while the translocation subtype was the least common.

Scope of the Report

The report covers a segment of key events, an executive summary, descriptive overview of short bowel syndrome, explaining its causes, signs and symptoms, pathogenesis, and diagnostic approaches.

Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, and disease progression.

A detailed review of the short bowel syndrome epidemiology, detailed assumptions, and rationale behind our approach is included in the report.

A detailed review of current challenges in establishing the diagnosis.

Prader–Willi Syndrome Report Insights

Patient Population

Country-wise Epidemiology Distribution

Age-specific Cases of Prader–Willi Syndrome

Genetic Subtype Cases of Prader–Willi Syndrome

Prader–Willi Syndrome Report Key Strengths

Eleven Years Forecast

The 7MM Coverage

Prader–Willi Syndrome Epidemiology Segmentation

Prader–Willi Syndrome Report Assessment

Epidemiology Segmentation

Current Diagnostic Practices

Epidemiology Insights

What are the disease risks, burdens, and unmet needs of Prader–Willi Syndrome? What will be the growth opportunities across the 7MM concerning the patient population with Prader–Willi Syndrome?

What is the historical and forecasted Prader–Willi Syndrome patient pool in the United States, EU4 (Germany, France, Italy, and Spain) the United Kingdom, and Japan?

Which stage-specific cases of Prader–Willi Syndrome is the largest contributor?

What is the diagnosis rate of Prader–Willi Syndrome?

Reasons to Buy

Insights on patient burden/disease, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.

To understand the age-specific Prader–Willi Syndrome prevalent cases in varying geographies over the coming years.

A detailed overview of grade-specific and age-specific cases of N Prader–Willi Syndrome is an inclusion.

To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis and insights on the recurrent and treatment-eligible patient pool.

Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.