Chronic Granulomatous Disease Market

• The CGD market is anticipated to sustain a steady Compound Annual Growth Rate (CAGR) during the forecast period (2025–2034). This growth is driven by orphan drug and rare pediatric disease incentives, expansion of prophylactic and immunomodulatory regimens, advances in curative gene‑editing and hematopoietic stem cell therapies, increased diagnostic rates and patient survival, and broader global market access. 
• The increasing cases of CGD may be attributed to enhanced diagnostic capabilities and physician awareness, expanded genetic and newborn screening programs, improved patient survival leading to a growing prevalent population, and higher rates of consanguinity in certain regions.
• ACTIMMUNE holds a unique position as the only US FDA‑approved therapy for CGD, directly enhancing phagocyte respiratory burst and reducing serious infection burden. Its thrice‑weekly subcutaneous administration sustains neutrophil function and improves patient outcomes, yet real‑world use is constrained by injection‑site reactions, monitoring requirements, and high costs. These limitations underscore the need for next‑generation treatments offering durable, less burdensome correction of the underlying immune defect. 
• There remains a critical gap for a single, widely effective treatment that unites ACTIMMUNE’s infection control with the durable, potentially curative benefits of gene therapy—ideally providing one-time correction across all CGD genotypes in a safe and accessible way.
• Emerging gene‑based therapies for CGD include EN‑374 and PM359, among others: EN‑374 delivers a corrected gene directly to hematopoietic stem cells in vivo, while PM359 ex vivo prime edits autologous stem cells to repair the p47^phox^ mutation before reinfusion—both aiming for curative one‑time treatment.
• In May 2025, Ensoma announced US FDA clearance of the IND application for EN-374, its lead in vivo HSC-directed gene insertion therapy being developed as a one-time treatment for X-linked chronic granulomatous disease (X-CGD).

DelveInsight’s comprehensive report titled “Chronic Granulomatous Disease (CGD) — Market Insights, Epidemiology, and Market Forecast – 2034” offers a detailed analysis of CGD. The report presents historical and projected epidemiological data covering total prevalent cases of chronic granulomatous disease, total diagnosed prevalent cases of chronic granulomatous disease, gender-specific cases of chronic granulomatous disease, genotype-specific cases of chronic granulomatous disease and treated cases of chronic granulomatous disease. In addition to epidemiology, the market report encompasses various aspects related to the patient population. These aspects include the diagnosis process, prescription patterns, physician perspectives, market accessibility, treatment options, and prospective developments in the market across seven major markets: the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan, spanning from 2020 to 2034.

The report analyzes the existing treatment practices and unmet medical requirements in CGD. It evaluates the market potential and identifies potential business prospects for enhancing therapies or interventions. This valuable information enables stakeholders to make well-informed decisions regarding product development and strategic planning for the market.

Chronic Granulomatous Disease Overview 

CGD is a rare inherited immunodeficiency caused by mutations affecting subunits of the Nicotinamide Adenine Dinucleotide Phosphate (NADPH) oxidase complex, particularly NADPH oxidase 2 (NOX2; also known as gp91^phox), resulting in defective production of Reactive Oxygen Species (ROS) in phagocytic cells. This impairs microbial killing and predisposes individuals—mostly males due to the X-linked nature of cytochrome b-245 beta chain (CYBB) gene mutations—to recurrent, life-threatening infections and granulomatous inflammation. While X-linked forms are typically more severe and present earlier, autosomal recessive variants (e.g., neutrophil cytosolic factor 1 [NCF1] mutations) often lead to milder disease. Catalase-positive organisms are particularly problematic in CGD, as they neutralize exogenous hydrogen peroxide that CGD phagocytes might otherwise exploit. The disease’s hallmark is a compromised respiratory burst, diminished neutrophil extracellular trap (NET) formation, and impaired efferocytosis, contributing to persistent inflammation and infection.

Chronic Granulomatous Disease Diagnosis and Treatment Algorithm 

CGD is diagnosed by assessing the functional capacity of phagocytic leukocytes to produce reactive oxygen species, primarily superoxide or hydrogen peroxide. Neutrophilic granulocytes are typically evaluated using assays such as the cytochrome c reduction and nitroblue tetrazolium tests for superoxide production, and the dihydrorhodamine-123 (DHR) or Amplex Red assays for hydrogen peroxide. Among these, the DHR assay is widely favored for its sensitivity and flow cytometry compatibility. Genetic testing plays a crucial role in confirming the diagnosis and determining the inheritance pattern by identifying mutations in genes encoding NADPH oxidase subunits, particularly CYBB and NCF1.

Management of CGD focuses on lifelong infection prevention, early diagnosis, and prompt treatment of infectious complications. Standard prophylaxis includes trimethoprim-sulfamethoxazole and itraconazole, with interferon-gamma used selectively. Acute infections require aggressive antimicrobial therapy, with empiric antifungal treatment often initiated before confirmation. Surgical intervention and corticosteroids are used for refractory infections and inflammatory complications, respectively. Hematopoietic Cell Transplantation (HCT) remains the only curative option, particularly effective in younger, asymptomatic patients with suitable donors. Gene therapy, involving retroviral vectors to correct genetic defects in autologous hematopoietic stem cells, holds promise but has been limited by safety concerns. Emerging CRISPR/Cas9-based editing offers a targeted alternative under investigation.

Chronic Granulomatous Disease Epidemiology

The epidemiology section of the CGD market report offers information on the patient populations, including historical and projected trends for each of the seven major markets. Examining key opinion leader views from physicians or clinical experts can assist in identifying the reasons behind historical and projected trends. The diagnosed patient pool, their trends, and the underlying assumptions are all included in this section of the report.

This section also presents the data with relevant tables and graphs, offering a clear and concise view of the prevalence of CGD. Additionally, the report discloses the assumptions made during the analysis, ensuring data interpretation and presentation transparency. This epidemiological data is valuable for understanding the disease burden and its impact on the patient population across various regions.

Key Findings

In the US, CGD is estimated to affect 1 in every 200,000 live births, with around 80% of cases occurring in males due to X-linked inheritance. 

According to secondary research, CGD affects approximately 1 in 250,000 individuals in Europe.

Among these cases, 67% are linked to X-linked inheritance and 33% to autosomal recessive inheritance.

In Japan, CGD is estimated to affect around 1 in 287,709 live births, with a male-to-female ratio of 7.2:1. The number of adult patients has been increasing, reflecting improved survival over time.

The epidemiology of CGD is expected to change during the forecast period (2025-2034).

Chronic Granulomatous Disease Market Outlook

The CGD therapeutics market is further expected to increase by the major drivers, such as the rising prevalence population, technological advancements, and upcoming therapies in the forecast period (2025–2034).

With ongoing research and continued dedication, the future holds hope for even more effective treatments and, ultimately, a cure for this challenging condition. According to DelveInsight, the CGD market in the 7MM is expected to change significantly during the forecast period 2025–2034.

Chronic Granulomatous Disease Drug Chapters 

Marketed Chronic Granulomatous Disease Drugs

ACTIMMUNE (interferon gamma-1b)/IMUKIN: Amgen

ACTIMMUNE (interferon gamma-1b) is approved in the US, EU4, the UK, and Japan for reducing the frequency and severity of serious infections in patients with chronic granulomatous disease (CGD). Administered subcutaneously, the recommended dose is 50 mcg/m² for patients with body surface area >0.5 m² and 1.5 mcg/kg for those ≤0.5 m², given three times weekly. Routine monitoring of hematology, blood chemistry, and urinalysis is advised every three months. In cases of severe adverse reactions, the dose should be reduced by 50% or temporarily discontinued until symptoms resolve.

In October 2023, Amgen completed its acquisition of Horizon Therapeutics in a transaction valued at approximately USD 27.8 billion, strengthening its portfolio in rare diseases.

In May 2016, Horizon Pharma acquired ex-North America and Japan rights to interferon gamma-1b from Boehringer Ingelheim for EUR 25 million, gaining global rights to the drug. It is marketed as ACTIMMUNE in the US, and Japan, and was previously sold by Boehringer Ingelheim as IMUKIN and other names in about 30 European countries.

Note: Detailed marketed therapies assessment will be provided in the final report

Emerging Chronic Granulomatous Disease Drugs

The CGD market is expected to evolve gradually, driven by the limited number of emerging therapies currently in development. Key players such as EN-374, PM359, among others are showing active commitment to addressing this unmet need, with ongoing efforts to advance novel treatment options for this complex condition.

EN-374: Ensoma

EN-374 is a novel in vivo gene therapy designed to restore immune function in patients with CGD, a rare genetic disorder marked by recurrent, severe infections and limited life expectancy. Unlike ex vivo gene therapy, which is complex and accessible to few, EN-374 delivers a corrected gene directly to HSC) in vivo, followed by selective enrichment. This approach aims to replicate the durable efficacy of ex vivo therapies while minimizing treatment burden and broadening patient access.

In February 2025, Ensoma received both Rare Pediatric Disease and Orphan Drug Designations (ODD) from the US FDA for its lead program, EN-374, for the treatment of X-CGD.

PM359: Prime Medicine

PM359, Prime Medicine’s lead candidate in its hematology, immunology, and oncology pipeline, is an investigational ex vivo gene-editing therapy targeting the p47phox variant of CGD. It uses autologous hematopoietic stem cells modified with an all-RNA Prime Editor, engineered to correct a high proportion of cells carrying the pathogenic mutation. The editor is delivered via electroporation, a clinically validated method. PM359 has been granted both rare pediatric disease designation and ODD by the US FDA.

In August 2025, Prime Medicine reported additional Phase I/II data for PM359 in CGD, consistent with positive results first announced in May 2025. Across two patients, a single infusion achieved rapid neutrophil and platelet engraftment, restored NADPH oxidase activity well above the clinical benefit threshold, DHR positivity of 58% by Day 15 and 66% by Day 30, and normalization of fecal calprotectin by Day 45 from markedly elevated baseline levels, all with an encouraging safety profile. While not planning to independently advance PM359, the company intends to pursue regulatory interactions with the US FDA.

Note: Detailed emerging therapies assessment will be provided in the final report.

Chronic Granulomatous Disease Market Segmentation

DelveInsight’s ‘Chronic Granulomatous Disease – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a detailed outlook of the current and future CGD market, segmented within countries, by therapies, and by classes. Further, the market of each region is then segmented by each therapy to provide a detailed view of the current and future market share of all therapies.

Chronic Granulomatous Disease Market Size by Countries

The CGD market size is assessed separately for various countries, including the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan. In 2024, the United States held a significant share of the overall 7MM (Seven Major Markets) CGD market, primarily attributed to the country’s higher prevalence of the condition and the elevated cost of the available treatments. This dominance is projected to persist, especially with the potential early introduction of new products.

Chronic Granulomatous Disease Market Size by Therapies

Chronic Granulomatous Disease Market Size by Therapies is categorized into current and emerging markets for the study period 2020–2034. 

Note: Detailed market segment assessment will be provided in the final report.

Chronic Granulomatous Disease Drugs Uptake

This section focuses on the sales uptake of potential CGD drugs that have recently been launched or are anticipated to be launched in the CGD market between 2020 and 2034. It estimates the market penetration of CGD drugs for a given country, examining their impact within and across classes and segments. It also touches upon the financial and regulatory decisions contributing to the probability of success (PoS) of the drugs in the CGD market.

The emerging CGD therapies are analyzed based on various attributes such as safety and efficacy in randomized clinical trials, order of entry and other market dynamics, and the unmet need they fulfill in the CGD market.

Note: Detailed assessment of drug uptake and attribute analysis will be provided in the full report on CGD.

Chronic Granulomatous Disease Market Access and Reimbursement

DelveInsight’s ‘Chronic Granulomatous Disease – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a descriptive overview of the market access and reimbursement scenario of CGD.

This section includes a detailed analysis of the country-wise healthcare system for each therapy, enlightening the market access, reimbursement policies, and health technology assessments.

KOL Views

To keep up with current CGD market trends and fill gaps in secondary findings, we interview KOLs and SMEs’ working in the CGD domain. Their opinion helps understand and validate current and emerging therapies and treatment patterns or CGD market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the CGD unmet needs.

Chronic Granulomatous Disease: KOL Insights

DelveInsight’s analysts connected with 25+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as Mercer University, US, University Hospital Tübingen, Germany, University of Barcelona, Barcelona, Spain, ellvitge-Idibell University Hospital, Barcelona, Spain, University of Leeds, Leeds, UK, and University of Occupational and Environmental Health, Japan, among others.

“CGD is caused by defective NADPH oxidase in phagocytic leukocytes, impairing ROS formation and microbial killing. As a result, CGD patients are particularly susceptible to infections by catalase-positive organisms, which degrade the hydrogen peroxide that phagocytes might otherwise exploit to compensate for the oxidative defect. Pneumonia is a common clinical manifestation, reflecting this vulnerability.”

“CGD is caused by mutations in genes encoding subunits of the NADPH oxidase complex, leading to impaired reactive oxygen species production in phagocytes. This defect compromises microbial killing, promotes granuloma formation, and results in persistent inflammation due to ineffective neutrophil function and clearance of pathogens.”

“Children with CGD typically present early in life with recurrent bacterial and fungal infections, most often involving the skin, lungs, gastrointestinal tract, and lymph nodes. Infections are frequently caused by catalase-positive organisms, including Staphylococcus aureus, Burkholderia cepacia, and Aspergillus species. Beyond infections, CGD is marked by chronic inflammation and granuloma formation, leading to complications such as colitis, liver abscesses, urinary tract obstruction, and growth failure. Clinical presentation is highly variable, and X-linked CGD may be associated with McLeod syndrome, underscoring the need for Kell antigen screening prior to transfusions.”

Note: Detailed assessment of KOL Views will be provided in the full report on Chronic Granulomatous Disease.

Competitive Intelligence Analysis

We conduct a Competitive and Market Intelligence analysis of the CGD Market, utilizing various Competitive Intelligence tools such as SWOT analysis and Market entry strategies. The inclusion of these analyses is contingent upon data availability, ensuring a comprehensive and well-informed assessment of the market landscape and competitive dynamics.

Chronic Granulomatous Disease Pipeline Development Activities

The report offers an analysis of therapeutic candidates in Phase II and I stages and examines companies involved in developing targeted therapeutics for CGD. It provides valuable insights into the advancements and progress of potential treatments in clinical development for this condition.

Pipeline Development Activities

The report covers information on collaborations, acquisition and merger, licensing, patent details, and other information for emerging CGD therapies.

Chronic Granulomatous Disease Report Insights

• Chronic Granulomatous Disease Patient Population
• Therapeutic Approaches
• Chronic Granulomatous Disease Pipeline Analysis
• Chronic Granulomatous Disease Market Size and Trends
• Chronic Granulomatous Disease Market Opportunities
• Impact of Upcoming Therapies

Chronic Granulomatous Disease Report Key Strengths

• 10 Years Forecast
• The 7MM Coverage
• Chronic Granulomatous Disease Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed Chronic Granulomatous Disease Market
• Chronic Granulomatous Disease Drugs Uptake

Chronic Granulomatous Disease Report Assessment

• Chronic Granulomatous Disease Current Treatment Practices
• Unmet Needs
• Chronic Granulomatous Disease Pipeline Product Profiles
• Chronic Granulomatous Disease Market Attractiveness

Key Questions

• How common is CGD?
• What are the key findings of CGD epidemiology across the 7MM, and which country will have the highest number of patients during the study period (2020–2034)?
• What are the currently available treatments for CGD?
• What are the disease risk, burden, and unmet needs of CGD?
• At what CAGR is the CGD market and its epidemiology is expected to grow in the 7MM during the forecast period (2025–2034)?
• How would the unmet needs impact the CGD market dynamics and subsequently influence the analysis of the related trends?
• What would be the forecasted patient pool of CGD in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?
• Among EU4 and the UK, which country will have the highest number of patients during the forecast period (2025–2034)?
• How many companies are currently developing therapies for the treatment of CGD?

Reasons to buy

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the CGD Market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand the existing market opportunity in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of current treatment in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the attribute analysis section to provide visibility around leading classes.
• Highlights of Access and Reimbursement policies of approved therapies, barriers to accessibility of off-label expensive therapies, and patient assistance programs.
• To understand the perspective of Key Opinion Leaders around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.