Gaucher Disease Market

Market Qverview:

The 7 major gaucher disease markets reached a value of USD 1,218.7 Million in 2024. Looking forward, IMARC Group expects the 7MM to reach USD 1,394.6 Million by 2035, exhibiting a growth rate (CAGR) of 1.24% during 2025-2035.

The gaucher disease market has been comprehensively analyzed in IMARC's new report titled "Gaucher Disease Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035". Gaucher disease is a rare, inherited lysosomal storage disorder caused by mutations in the GBA gene, leading to deficient glucocerebrosidase enzyme activity. This results in the accumulation of glucocerebroside within lysosomes of macrophages, primarily affecting the spleen, liver, and bones. The disease is classified into three main types: Type 1 (non-neuronopathic) is the most common and does not affect the nervous system; Type 2 (acute neuronopathic) is severe and fatal in infancy; and Type 3 (chronic neuronopathic) presents with progressive neurological involvement. Symptoms include hepatosplenomegaly, anemia, thrombocytopenia, bone pain, fractures, lung disease, and, in severe cases, neurological impairment such as seizures and cognitive decline. Diagnosis involves enzyme activity testing in leukocytes, genetic analysis for GBA mutations, and imaging techniques like MRI to assess organ involvement and disease severity.

A significant driver for market growth would be the surging incidence of Gaucher disease, especially in persons of Ashkenazi descent. Awareness programs among others for genetic screening and early diagnostic efforts will support timely detection and management of this dreaded illness. Enzyme replacement therapy (ERT) has transformed the treatment paradigm whereby drugs like imiglucerase, velaglucerase alfa, and taliglucerase alfa have reduced the accumulation of glucocerebroside and provided symptomatic relief, thus improving the health status and quality of life of their patients. However, lifelong intravenous infusion has impeded adherence and accessibility problems. Increased acceptance of substrate reduction therapy (SRT) solutions like eliglustat and miglustat would provide an oral alternative to widen the spectrum of available treatment. More advanced avenues of targeted, potentially curative, gene therapies, chaperone-based therapies, and novel small-molecule drugs are now opening up in the treatment landscape. To hasten market growth, other mechanisms such as orphan drug incentives, increased funding for research, and strategic alliances between pharmaceutical companies are also at work. The focus placed on personalized medicine and patient-centricity is likely to create even more impetus for research and investment into new therapeutics for Gaucher disease.

IMARC Group's new report provides an exhaustive analysis of the gaucher disease market in the United States, EU4 (Germany, Spain, Italy, and France), United Kingdom, and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc. The report also provides the current and future patient pool across the seven major markets. According to the report, Europe has the largest patient pool for gaucher disease and also represents the largest market for its treatment. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario, unmet medical needs, etc., have also been provided in the report. This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the gaucher disease market in any manner.

Recent Developments:

• In October 2024, data from the phase 1/2 GALILEO-1 trial revealed that FLT201, an adeno-associated virus gene therapeutic candidate, significantly reduced harmful substrate accumulation in Gaucher patients and improved blood counts and organ volume. The treatment had acceptable tolerability and is planned to enter phase 3 trials in 2025.
• In May 2024, Evotec and CENTOGENE announced the discovery of a promising new small molecule for treating neuronopathic Gaucher disease (type 2 and 3). This collaboration combines CENTOGENE's deep rare disease-oriented data with Evotec's drug discovery expertise.
• In January 2024, Lingyi Biotech announced that its gene therapy drug LY-M001 injection has received U.S. FDA IND approval for Gaucher disease. This comes on the heels of approval by China's NMPA, showcasing Lingyi's innovation. LY-M001, a gene therapy based on an adeno-associated virus, has demonstrated good early efficacy in an Investigator-Initiated Trial, with no adverse events reported.

Key Highlights:

• Gaucher disease is an uncommon lysosomal storage disorder that occurs in about 1 of every 40,000 to 60,000 people around the globe. Nevertheless, within the Ashkenazi Jewish group, it occurs much more frequently, with the prevalence being approximately 1 out of every 850 people.
• Although Gaucher disease is prevalent worldwide, Europe, North America, and Israel have more cases, especially among groups with a higher prevalence of genetic mutations. Early diagnosis has been facilitated by genetic screening programs in Israel.
• There are three primary types—Type 1 (non-neuronopathic), Type 2 (acute neuronopathic), and Type 3 (chronic neuronopathic). Type 1 is most prevalent and typically non-lethal, whereas Type 2 is the most fatal, frequently causing early childhood death.
• Using enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), patients with Type 1 are able to lead almost normal life expectancies. Type 2 has a high death rate, though, and the majority of those affected will not live longer than 2 years. Patients with Type 3 can survive into adulthood but typically develop progressive neurological deterioration.

Drugs:

Cerezyme (Imiglucerase) is a recombinant human beta-glucocerebrosidase enzyme replacement therapy that replaces missing endogenous enzyme activity, reducing the amount of glucocerebroside accumulated. It has a molecular weight of 59.3 kD, and its glycoprotein structure is modified to facilitate mannose receptor-mediated uptake into macrophages, thus enhancing therapeutic efficiency in the management of lysosomal storage disorder.

VPRIV (velaglucerase alfa) is an enzyme-activated human recombinant glucocerebrosidase treatment for Type 1 Gaucher disease, specifically treating glucocerebrosidase deficiency. It assists in alleviating symptoms of the lysosomal enzyme disorder. VPRIV is also investigated as a possible management of Type 3 Gaucher disease.

Elelyso (taliglucerase alfa) is a recombinant enzyme replacement treatment, β-glucocerebrosidase, of Type 1 Gaucher disease. It is approved in 2012 and hydrolyzes lysosomal glucocerebroside and fixes the enzyme deficits related to chronic treatment. Elelyso serves as an alternate choice to other enzyme replacement therapies in fixing the metabolic processes among affected individuals.

Cerdelga (eliglustat) is an oral inhibitor of glucosylceramide synthase for the long-term treatment of type 1 Gaucher disease. Cerdelga reduces the levels of glucosylceramide, which blocks organ infiltration and related complications. Cerdelga is administered based on CYP2D6 metabolizer status to permit best dosing.

Time Period of the Study

• Base Year: 2024
• Historical Period: 2019-2024
• Market Forecast: 2025-2035

Countries Covered

• United States
• Germany
• France
• United Kingdom
• Italy
• Spain
• Japan

Analysis Covered Across Each Country

• Historical, current, and future epidemiology scenario
• Historical, current, and future performance of the gaucher disease market
• Historical, current, and future performance of various therapeutic categories in the market
• Sales of various drugs across the gaucher disease market
• Reimbursement scenario in the market
• In-market and pipeline drugs

Competitive Landscape:

This report also provides a detailed analysis of the current gaucher disease marketed drugs and late-stage pipeline drugs.

In-Market Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

Late-Stage Pipeline Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

*Kindly note that the drugs in the above table only represent a partial list of marketed/pipeline drugs, and the complete list has been provided in the report.

Key Questions Answered in this Report:

Market Insights

• How has the gaucher disease market performed so far and how will it perform in the coming years?
• What are the markets shares of various therapeutic segments in 2024 and how are they expected to perform till 2035?
• What was the country-wise size of the gaucher disease market across the seven major markets in 2024 and what will it look like in 2035?
• What is the growth rate of the gaucher disease market across the seven major markets and what will be the expected growth over the next ten years?
• What are the key unmet needs in the market?

Epidemiology Insights

• What is the number of prevalent cases (2019-2035​) of gaucher disease across the seven major markets?
• What is the number of prevalent cases (2019-2035​) of gaucher disease by age across the seven major markets?
• What is the number of prevalent cases (​2019-2035​) of gaucher disease by gender across the seven major markets?
• How many patients are diagnosed (​2019-2035​) with gaucher disease across the seven major markets?
• What is the size of the gaucher disease patient pool (2019-2024) across the seven major markets?
• What would be the forecasted patient pool (2025-2035) across the seven major markets?
• What are the key factors driving the epidemiological trend of gaucher disease?
• What will be the growth rate of patients across the seven major markets?

Gaucher Disease: Current Treatment Scenario, Marketed Drugs and Emerging Therapies

• What are the current marketed drugs and what are their market performance?
• What are the key pipeline drugs and how are they expected to perform in the coming years?
• How safe are the current marketed drugs and what are their efficacies?
• How safe are the late-stage pipeline drugs and what are their efficacies?
• What are the current treatment guidelines for gaucher disease drugs across the seven major markets?
• Who are the key companies in the market and what are their market shares?
• What are the key mergers and acquisitions, licensing activities, collaborations, etc. related to the gaucher disease market?
• What are the key regulatory events related to the gaucher disease market?
• What is the structure of clinical trial landscape by status related to the gaucher disease market?
• What is the structure of clinical trial landscape by phase related to the gaucher disease market?
• What is the structure of clinical trial landscape by route of administration related to the gaucher disease market?