Hypophosphatasia - Epidemiology Forecast–2034

Hypophosphatasia - Epidemiology Forecast–2034

Key Highlights

DelveInsight's analysis projects that in 2023, there were 6,193 diagnosed prevalent cases of hypophosphatasia in the 7MM. This number is expected to grow at a compound annual growth rate (CAGR) of 0.8%, reaching approximately 6,219 cases by 2034. The increase is attributed to enhanced genetic screening and greater awareness and education about the condition.

In the US, there were 5,572 total diagnosed prevalent cases of hypophosphatasia in 2023; which are expected to increase at a CAGR of 0.9% to 5,600 by 2034.

Among the EU4 countries and the UK, Germany had the highest number of severity-specific diagnosed prevalent cases of hypophosphatasia, with 16 mild cases, 103 moderate cases, and 3 severe cases. In contrast, Spain had the lowest number, with 7 mild cases, 46 moderate cases, and 1 severe case in 2020.

Among the 7MM, in 2023, Japan accounted for nearly 141 cases, which was nearly 2.3% of the total diagnosed prevalent cases of hypophosphatasia in the 7MM.

DelveInsight’s analysis indicates that in 2023, Japan, accounted for approximately 17 mild cases, 119 moderate cases, and 5 severe cases diagnosed as prevalent cases of hypophosphatasia. This is expected to change by 2034.

DelveInsight’s “Hypophosphatasia – Epidemiology Forecast – 2034” report delivers an in-depth understanding of hypophosphatasia, historical and forecasted epidemiology of hypophosphatasia 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

Hypophosphatasia Disease Understanding

Hypophosphatasia Overview

Hypophosphatasia is a rare genetic metabolic disorder marked by inadequate mineralization of bones and teeth. This impaired mineralization causes bones to be soft, leading to increased susceptibility to fractures and deformities, as well as tooth loss. The condition can be inherited either in an autosomal recessive or dominant pattern, depending on the specific form. A heterogeneous inherited disorder of bone metabolism, it has a very varied clinical expression. It is characterized by defective bone and dental mineralization, leading to skeletal abnormalities with complications resulting in significant morbidity and mortality. The phenotypes range from the complete absence of bone mineralization and fetal death, mainly due to respiratory problems associated with thoracic deformities and pulmonary hypoplasia, to spontaneous fractures, premature tooth loss, seizures, or even nephrocalcinosis.

Hypophosphatasia is a multi-systemic metabolic disorder caused by loss-of-function mutations in the ALPL gene, which encodes the enzyme tissue-nonspecific alkaline phosphatase (TNSALP) that is crucial for mineralization. Hypophosphatasia is classified into several forms based on the severity of symptoms and age of onset. The most severe type is perinatal lethal, often resulting in death shortly after birth, followed by perinatal benign, which is non-lethal. Infantile hypophosphatasia presents within the first 6 months and can be severe, while childhood onset occurs later with variable severity. Adult hypophosphatasia involves musculoskeletal pain, and odontohypophosphatasia is the mildest form, primarily affecting dental health. Hypophosphatasia is diagnosed by identifying its symptoms and complications and understanding the patient history. Hypophosphatasia signs are revealed by a thorough clinical examination, supported by routine x-rays and various laboratory tests, including biochemical studies, alkaline phosphatase (ALP) assay, and blood and urine tests, among others. Serum alkaline phosphatase activity is markedly reduced while 5'pyridoxal phosphate in the blood and urinary phosphoethanolamine increase. Ultrasound is done for prenatal and perinatal forms; clinical examinations and radiographs help establish infantile, childhood, and adult diagnoses.

Further details related to diagnosis are provided in the report…

Hypophosphatasia Epidemiology

For the purpose of designing the patient-based model for hypophosphatasia, the report provides historical as well as forecasted epidemiology segmented by total diagnosed prevalent cases of hypophosphatasia, and severity-specific diagnosed prevalent cases of hypophosphatasia in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain) and the United Kingdom, and Japan, from 2020 to 2034.

According to DelveInsight’s epidemiology model, in the 7MM, the total diagnosed prevalent cases of hypophosphatasia were 6,193 in 2023, which are expected to increase at a CAGR of 0.8% by 2034.

In 2023, there were 780 mild cases, 4,736 moderate cases, and 56 severe cases of hypophosphatasia reported in the US, based on severity-specific diagnosed prevalence. These numbers are projected to increase to 784 mild cases, 4,760 moderate cases, and 56 severe cases by 2034.

In EU4 and the UK, the total diagnosed prevalent cases of hypophosphatasia were 481 in 2023. Of these, nearly 122 cases were found in Germany, followed by 119 cases in France and 117 in the UK. These cases are expected to change during the study period.

Japan had the second-highest number of diagnosed prevalent cases of hypophosphatasia among the 7MM, with 141 cases in 2023.

KOL Views

To gaze into the epidemiology insights of the real world, we take KOLs and SMEs’ opinions working in the domain through primary research to fill the data gaps and validate our secondary research on disease prevalence.

DelveInsight’s analysts connected with 20+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. Centers such as the Children's Mercy Research Institute in Kansas City, Missouri, Universitaisklinikum Wurzburg, Osaka University Graduate School of Medicine, and Soft Bones, S. Andrea Hospital, Diabetes Unit, Italy University of Tokyo Hospital, Japan and others were contacted. Their opinion helps understand and validate current disease prevalence, gender involved with the disease, diagnosis rate, and diagnostic criteria.

“The prevalence of severe hypophosphatasia is approximately 1 in every 100,000 live births. Though the exact numbers are unknown, it is believed nearly 1 in every 200 may be carriers of the hypophosphatasia gene in the US.”

“About 50% of individuals with persistently low alkaline phosphatase (ALP) levels have mutations in the TNSALP gene, with enzyme activity decreasing with each mutation. “Haploinsufficiency alone can lower blood ALP levels, and approximately 50% of patients with these mutations show a buildup of phosphorylated substrates. This indicates a significant genetic component in hypophosphatasia.”

Scope of the Report

The report covers a segment of key events, an executive summary, a descriptive overview of hypophosphatasia, explaining its causes, signs and symptoms, and currently available diagnostic algorithms and guidelines.

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

The report provides an edge for understanding trends, expert insights/KOL views, and patient journeys in the 7MM.

A detailed review of current challenges in establishing the diagnosis.

Hypophosphatasia Report Insights

Patient Population

Country-wise Epidemiology Distribution

Diagnosed Prevalent Cases of Hypophosphatasia

Severity-specific Diagnosed Prevalent Cases of Hypophosphatasia

Hypophosphatasia Report Key Strengths

11 years Forecast

The 7MM Coverage

Hypophosphatasia Epidemiology Segmentation

Hypophosphatasia Report Assessment

Current Diagnostic Practices Patient Segmentation

Epidemiology Insights

What are the disease risks, burdens, and unmet needs of hypophosphatasia? What will be the growth opportunities across the 7MM concerning the patient population of hypophosphatasia?

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

Why are the total cases of Hypophosphatasia in Japan lower than in the US?

Which country has a high patient share for hypophosphatasia?

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 Hypophosphatasia cases in varying geographies over the coming years.

To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis options.

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

Frequently Asked Questions

1. What is the forecast period covered in the report?

The Hypophosphatasia Epidemiology report for the 7MM covers the forecast period from 2024 to 2034, providing a projection of epidemiology dynamics and trends during this timeframe.

2. Out of all EU4 countries and the UK, which country had the highest population of Hypophosphatasia cases in 2023?

The highest cases of Hypophosphatasia were found in Germany among EU4 and the UK in 2023.

3. How is epidemiological data collected and analyzed for forecasting purposes?

Epidemiological data is collected through surveys, clinical studies, health records, and other sources. It is then analyzed to calculate disease rates, identify trends, and project future disease burdens using mathematical models.

4. Out of all 7MM countries, which country had the highest population of Hypophosphatasia cases in 2023?

The highest cases of Hypophosphatasia were found in the US among the 7MM in 2023.