The global Pompe disease treatment market size was estimated to be worth USD 1.29 billion in 2021. The market is expected to rise at a CAGR of 3.8% in the forecast period of 2023-2031, and by 2030, the market value is anticipated to be worth USD 1.82 billion.
Pompe disease is a rare genetic disorder causing the accumulation of complex sugars called glycogen in the body’s cells. This disease is caused due to the deficiency of an enzyme, acid alfa glucosidase, responsible for the metabolism of glycogen in the body. The disease is a result of the mutations caused in the GAA gene, that assist in the breakdown of glycogen.
There are three main types of Pompe disease, classic infantile, non-classic infantile, and late-onset depending on the onset of the disease. The disease is rare and affects nearly 1 in 40,000 people in the United States.
The signs and symptoms of Pompe disease depend on the indication type, however, some common symptoms are weak muscles, enlarged organs, difficulty in breathing, slower muscular movements, irregular heartbeat, hearing problems, frequent lung infections, weight loss and tiredness.
Pompe disease is diagnosed with the help of several tests including blood tests, breathing tests, cardiac tests, sleep tests, and electromyography. Blood tests are examined to know the concentration of enzymes present in the body. Pulmonary tests aid in the measurement of lung capacity. Electromyography is a technique used to assess the working of muscular movements. Cardiac tests such as electrocardiogram, echocardiogram, and X-rays are being incorporated to check the functioning of the heart. DNA testing is the confirmatory test done after all the preliminary diagnostic tests.
The treatment for Pompe disease is based on the symptoms, affected organs, and the type of indication. Enzyme replacement therapy is the only approved treatment for the management of Pompe disease in all patients.
According to the Pompe disease treatment market research report, the market can be categorised into the following segments:
Market Breakup by Indication Type
Market Breakup by Diagnosis Methods
Market Breakup by Therapy Type
Market Breakup by Route of Administration
Market Breakup by End User
Market Breakup by Region
The Pompe disease treatment market is primarily driven by the increasing disease burden, thus attributing to the increased demand for diagnostics and therapeutics, leading to market growth and development.
The market is further driven by the increasing launches and approvals of novel therapeutic products. The growing research and developmental activities and rising expenditure by the public and private firms has also stimulated the expansion of the Pompe disease treatment market. For example, Genethon, a key market player, initiated a gene therapy clinical trial for the treatment of the late-onset Pompe disease, based on novel developed technologies.
Additionally, the improvements and developments in enzyme replacement therapy and gene therapy are anticipated to provide lucrative growth opportunities to the Pompe disease treatment market. Further, the high costs of the treatment can hamper the market growth during the forecasted period.
Enzyme replacement therapy is expected to account for the highest share in the Pompe disease treatment market owing to the fact that it is the only effective and available treatment that aids in eradicating the deficiency of the acid alpha-glucosidase enzyme. In this therapy, the enzyme-filled injections are administered parenterally into the patient’s body.
North America is anticipated to dominate the Pompe disease treatment market due to the increasing adoption of advanced therapies, rising disease prevalence, improved healthcare infrastructure and significant presence of many key players.
According to the International Journal of Neonatal Screening of March 2020, Pompe disease was diagnosed in 1 in every 25,000 patients, thus contributing to the higher prevalence.
The market growth in North America is further bolstered by the supporting government initiatives and programs that have led to increased awareness and better healthcare opportunities. For example, in 2020, an organisation, The Assistance Fund (TAF) implemented a novel program to aid the patients suffering from Pompe disease and their families who can’t avail of the high treatment costs.
The Pompe disease treatment market in North America is accelerated by the increasing product launches and approvals by the United States Food and Drug Administration. Recently, the United States FDA accepted the immediate review of the biologics license application for the Aval glucoside alfa for the management of patients with Pompe disease.
The treatment of Pompe disease is patient-centric, type-specific, supportive, and based on the disease’s symptoms. Enzyme replacement therapy is the only approved treatment for the management of the disease in all patients. In Lumizyme therapy, intravenous administration of recombinant human acid alpha-glucosidase takes place and has benefitted in increasing the life expectancy of patients living with infantile-onset Pompe disease.
Nexviazyme (avalglucoside alfa-ngpt) is another ERT therapy approved by the FDA for treating patients one year of age and older suffering from late-onset Pompe disease.
Additional supportive treatments may be incorporated for the management of associated problems such as pulmonary disorders, cardiac disorders, and impaired muscular movements. Some of the supportive and add-on treatments are respiratory support, physical therapy, physiotherapy, occupational therapy, speech therapy, and orthopaedic treatment.
Specialised teams of cardiologists, pulmonologists, neurologists, and physiotherapists, among others, are required for the treatment of the symptoms and offer supportive care to the patients living with Pompe disease.
Despite the availability of enzyme replacement therapy, several other therapies and products are required for the better and more effective treatment of Pompe disease. Many novel targeted therapies are in pipeline and require further clinical investigation to analyse their efficacy, tolerability, safety, and adverse effects.
Pompe disease is a gene-mediated disorder and hence, gene therapies remain the viable and best suitable option in the treatment of Pompe’s disease further undergoing research is in the process of development. The gene therapy is aimed at restoring the acid alpha-glucosidase production and therapeutic activity in critical tissues to restore impaired cardiac and respiratory capacity.
Other novel gene therapies are targeted to increase the body’s ability to produce acid alpha-glucosidase by administering the normal copy of the GAA gene in the patient’s hepatic cells or bone marrow stem cells through the intravenous method.
At present, many groups of clinical researchers are working on the discovery of novel therapies and facilitating them forward towards the advanced stages of clinical trials. A further exploratory study is being conducted for the industrial rhGAA used in enzyme replacement therapy. For example, carbohydrate side chains of industrial rhGAA are modified and altered to increase the muscle cell uptake and chaperones are incorporated to stabilise and balance the I.V. administered form of rhGAA.
Aro Biotherapeutics, a key market player, recently granted rare paediatric drug designation for its novel therapeutic agent ABX1100 used for the treatment of Pompe disease.
Astellas Pharma is conducting clinical trials for an adeno-associated virus gene replacement therapy, AT 485 that is expected to show some promising effects in the treatment of the late-onset Pompe disease. This therapy is investigated to assess its efficacy in delivering a functional GAA gene, that will subsequently be converted to GAA directly in the affected tissues, and will further help in the treatment of Pompe disease.
Maze Therapeutics is also performing clinical trials for the MZE001, which is expected to be a potential therapy for patients suffering from late-onset Pompe disease. This drug acts by inhibiting the activity of the glycogen-producing enzyme, glycogen synthase (GYS1), thus preventing the build-up of complex sugars in the body tissues.
Another set of clinical trials is performed by Amicus Therapeutics, for the investigational therapy, AT-GAA, that is expected to provide improved pulmonary functions and muscular movements.
Novel diagnostic measures and tools are also being discovered for the improved diagnosis of Pompe disease. In the United Kingdom, an ongoing clinical trial is being conducted to evaluate a non-invasive MRI-based tool that will aid in the monitoring of glycogen build-up and Pompe disease without the requirement of any invasive muscle biopsies.
Implementing new technologies and innovations in healthcare has already provided enormous benefits to human health. Researchers’ tremendous efforts have anticipated a rapid increase in the approvals for intelligent therapies. Several ongoing clinical trials are emerging as a driving factor for Pompe disease treatment market growth and development.
The report gives an in-depth analysis of the key players involved in the Pompe disease treatment market, sponsors manufacturing the therapies, and putting them through trials to get FDA approvals. The companies included in the market are as follows:
|Scope of the Report||
Historical and Forecast Trends, Industry Drivers and Constraints, Historical and Forecast Market Analysis by Segment:
|Breakup by Indication Type||
|Breakup by Diagnosis Methods||
|Breakup by Therapy Type||
|Breakup by Route of Administration||
|Breakup by End User||
|Breakup by Region||
*At Expert Market Research, we strive to always give you current and accurate information. The numbers depicted in the description are indicative and may differ from the actual numbers in the final EMR report.
1.1 Objectives of the Study
1.2 Key Assumptions
1.3 Report Coverage – Key Segmentation and Scope
2 Research Methodology
3 Executive Summary
4 Pompe Disease Overview
4.1 Guidelines and Stages
4.3 Screening and Diagnosis
4.4 Treatment Pathway
5 Patient Profile
5.1 Patient Profile Overview
5.2 Patient Psychology and Emotional Impact Factors
5.3 Risk Assessment and Treatment Success Rate
6 Current Scenario Evaluation and Regulatory Framework
6.1 Emerging Therapies and Clinical Trials
6.2 Patent Landscape
6.2.1 Patent Overview
220.127.116.11 Patent Status and Expiry
18.104.22.168 Timelines from Drug Development to Commercial Launch
22.214.171.124 New Drug Application
126.96.36.199.1 Documentation and Approval Process
6.3 Cost of Treatment
6.4 Regulatory Framework
6.4.1 Regulatory Overview
188.8.131.52 US FDA
184.108.40.206 EU EMA
220.127.116.11 INDIA CDSCO
18.104.22.168 JAPAN PMDA
7 Challenges and Unmet Needs
7.1 Treatment Pathway Challenges
7.2 Compliance and Drop-Out Analysis
7.3 Awareness and Prevention Gaps
8 Global Pompe Disease Treatment Market
8.1 Global Pompe Disease Treatment Market Overview
8.2 Global Pompe Disease Treatment Market Analysis
8.2.1 Market Overview
22.214.171.124 Global Pompe Disease Treatment Market Historical Value (2016-2022)
126.96.36.199 Global Pompe Disease Treatment Market Forecast Value (2023-2031)
8.2.2 Global Pompe Disease Treatment Market by Indication Type
188.8.131.52 Market Overview
184.108.40.206.1 Infantile-Onset Pompe Disease (IOPD)
220.127.116.11.1.1 Classic Infantile Form
18.104.22.168.1.2 Non-Classic Infantile Form
22.214.171.124.2 Late-Onset Pompe Disease (LOPD)
8.2.3 Global Pompe Disease Treatment Market by Diagnosis Type
126.96.36.199 Market Overview
188.8.131.52.1 Blood Tests
184.108.40.206.2 Genetic Tests
220.127.116.11.3 Prenatal Tests
8.2.4 Global Pompe Disease Treatment Market by Therapy Type
18.104.22.168 Market Overview
22.214.171.124.1 Enzyme Replacement Therapy (ERT)
126.96.36.199.2 Chaperone-Advanced Replacement Therapy (CART)
188.8.131.52.3 Substrate Replacement Therapy (SRT)
184.108.40.206.4 Supportive Care
8.2.5 Global Pompe Disease Treatment Market by Route of Administration
220.127.116.11 Market Overview
8.2.6 Global Pompe Disease Treatment Market by End User
18.104.22.168 Market Overview
22.214.171.124.2 Diagnostic Centres
126.96.36.199.3 Ambulatory Surgical Centres
8.2.7 Global Pompe Disease Treatment Market by Region
188.8.131.52 Market Overview
184.108.40.206.1 North America
220.127.116.11.3 Asia Pacific
18.104.22.168.4 Middle East and Africa
22.214.171.124.5 Latin America
9 North America Pompe Disease Treatment Market
9.1 Market Share by Country
9.2 United States of America
9.2.1 Historical Trend (2016-2022)
9.2.2 Forecast Trend (2023-2031)
9.3.1 Historical Trend (2016-2022)
9.3.2 Forecast Trend (2023-2031)
10 Europe Pompe Disease Treatment Market
10.1 Market Share by Country
10.2 United Kingdom
10.2.1 Historical Trend (2016-2022)
10.2.2 Forecast Trend (2023-2031)
10.3.1 Historical Trend (2016-2022)
10.3.2 Forecast Trend (2023-2031)
10.4.1 Historical Trend (2016-2022)
10.4.2 Forecast Trend (2023-2031)
10.5.1 Historical Trend (2016-2022)
10.5.2 Forecast Trend (2023-2031)
11 Asia Pacific Pompe Disease Treatment Market
11.1 Market Share by Country
11.2.1 Historical Trend (2016-2022)
11.2.2 Forecast Trend (2023-2031)
11.3.1 Historical Trend (2016-2022)
11.3.2 Forecast Trend (2023-2031)
11.4.1 Historical Trend (2016-2022)
11.4.2 Forecast Trend (2023-2031)
11.5.1 Historical Trend (2016-2022)
11.5.2 Forecast Trend (2023-2031)
11.6.1 Historical Trend (2016-2022)
11.6.2 Forecast Trend (2023-2031)
12 Latin America Pompe Disease Treatment Market
12.1 Market Share by Country
12.2.1 Historical Trend (2016-2022)
12.2.2 Forecast Trend (2023-2031)
12.3.1 Historical Trend (2016-2022)
12.3.2 Forecast Trend (2023-2031)
12.4.1 Historical Trend (2016-2022)
12.4.2 Forecast Trend (2023-2031)
13 Middle East and Africa Pompe Disease Treatment Market
13.1 Market Share by Country
13.2 Saudi Arabia
13.2.1 Historical Trend (2016-2022)
13.2.2 Forecast Trend (2023-2031)
13.3 United Arab Emirates
13.3.1 Historical Trend (2016-2022)
13.3.2 Forecast Trend (2023-2031)
13.4.1 Historical Trend (2016-2022)
13.4.2 Forecast Trend (2023-2031)
13.5 South Africa
13.5.1 Historical Trend (2016-2022)
13.5.2 Forecast Trend (2023-2031)
14 Global Pompe Disease Treatment Market Dynamics
14.1 Market Drivers and Constraints
14.2 SWOT Analysis
14.3 Porter’s Five Forces Model
14.4 Key Demand Indicators
14.5 Key Price Indicators
14.6 Industry Events, Initiatives, and Trends
14.7 Value Chain Analysis
15 Supplier Landscape
15.1 Amicus Therapeutics, Inc.
15.1.1 Company Overview
15.1.2 Product Portfolio
15.1.3 Demographic Reach and Achievements
15.1.4 Mergers and Acquisitions
15.2.1 Company Overview
15.2.2 Product Portfolio
15.2.3 Demographic Reach and Achievements
15.2.4 Mergers and Acquisitions
15.3 Genzyme (Sanofi)
15.3.1 Company Overview
15.3.2 Product Portfolio
15.3.3 Demographic Reach and Achievements
15.3.4 Mergers and Acquisitions
15.4 Audentes Therapeutics (Astellas Pharma Inc.)
15.4.1 Company Overview
15.4.2 Product Portfolio
15.4.3 Demographic Reach and Achievements
15.4.4 Mergers and Acquisitions
15.5 EpiVax, Inc
15.5.1 Company Overview
15.5.2 Product Portfolio
15.5.3 Demographic Reach and Achievements
15.5.4 Mergers and Acquisitions
15.6.1 Company Overview
15.6.2 Product Portfolio
15.6.3 Demographic Reach and Achievements
15.6.4 Mergers and Acquisitions
15.7 Sangamo Therapeutics
15.7.1 Company Overview
15.7.2 Product Portfolio
15.7.3 Demographic Reach and Achievements
15.7.4 Mergers and Acquisitions
15.8 Bayer AG
15.8.1 Company Overview
15.8.2 Product Portfolio
15.8.3 Demographic Reach and Achievements
15.8.4 Mergers and Acquisitions
15.9 AVROBIO, Inc.
15.9.1 Company Overview
15.9.2 Product Portfolio
15.9.3 Demographic Reach and Achievements
15.9.4 Mergers and Acquisitions
15.10 Nova Biomedical
15.10.1 Company Overview
15.10.2 Product Portfolio
15.10.3 Demographic Reach and Achievements
15.10.4 Mergers and Acquisitions
15.11 Trinity Biotech
15.11.1 Company Overview
15.11.2 Product Portfolio
15.11.3 Demographic Reach and Achievements
15.11.4 Mergers and Acquisitions
16 Global Pompe Disease Treatment Market Distribution Model (Additional Insight)
16.2 Potential Distributors
16.3 Key Parameters for Distribution Partner Assessment
17 Payment Methods (Additional Insight)
17.1 Government Funded
17.2 Private Insurance
*Additional insights provided are customizable as per client requirements.
The market is primarily driven by the rising prevalence of Pompe disease, increasing research and developmental activities and novel product launches and approvals and favouring government initiatives.
North America is anticipated to hold a maximum share of the market during the forecast period.
Based on the diagnosis type, the market is segmented into blood tests, genetic tests, prenatal tests, and others.
Based on the indication type, the market is bifurcated into infantile-onset Pompe disease and late-onset Pompe disease. The infantile-onset Pompe disease is further classified into classic infantile form and non-classic infantile form.
Based on the end users, the market is divided into hospitals, diagnostic centres, ambulatory and surgical centres, among others.
Based on the route of administration, the market is categorised into oral and intravenous, among others.
Based on the therapy type, the market is segmented into Enzyme Replacement Therapy (ERT), Chaperone-Advanced Replacement Therapy (CART), Substrate Replacement Therapy (SRT), supportive care and others.
The different regions in the market are North America, Europe, Asia Pacific, Latin America and the Middle East and Africa.
The key companies involved in the market are Amicus Therapeutics, Inc., BioMarin, Genzyme (Sanofi), Audentes Therapeutics (Astellas Pharma Inc.), EpiVax, Inc, Oxyrane, Sangamo Therapeutics, Bayer AG, AVROBIO, Inc., Nova Biomedical, and Trinity Biotech, among others.
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