Gene and Cell Therapies in Rare Disorder - Epidemiology Forecast - 2036

Cell and Gene Therapies in Rare Disorders Insights and Trends

• Rare diseases, defined as conditions affecting fewer than 1 in 2,000 people, are not truly rare when viewed collectively. More than 6,000 rare diseases have been identified, impacting approximately 300 million people worldwide, representing nearly 3.5-5.9% of the global population.
• The European Commission defines rare diseases as chronic or life-threatening conditions that impact fewer than 1 in 2,000 individuals, equivalent to approximately 50 per 100,000 people.
• Approximately 80% of rare diseases have a genetic origin.
• About 70% of these diseases manifest during childhood, highlighting the importance of early diagnosis and intervention.
• The prevalence of X-linked retinitis pigmentosa (XLRP) was estimated to be between 2.7-3.5 per 100,000 males in the US and Europe. After correction for misclassification, the prevalence increased to 4.0-5.2 per 100,000 males. Finally, the proportion of XLRP cases due to RPGR mutations was applied, resulting in an RPGR-mutated XLRP estimate of 3.4-4.4 per 100,000 males.

Cell and Gene Therapies in Rare Disorders Epidemiology Forecast in the 7MM

• 2025 Cell and Gene Therapies in Rare Disorders Prevalent Cases: ~940,000
• Cell and Gene Therapies in Rare Disorders Growth Rate (2026-2036): ~0.5% CAGR

DelveInsight's 'Cell and Gene Therapies in Rare Disorders - Epidemiology Forecast - 2036' report delivers an in-depth understanding of the cell and gene therapies in rare disorders, historical and forecasted epidemiology in the United States, EU4 (Germany, Spain, Italy, and France), and the United Kingdom, and Japan.

Cell and Gene Therapies in Rare Disorders: Understanding

Cell and Gene Therapies in Rare Disorders Overview

Cell and gene therapies represent a rapidly advancing class of treatments designed to address the underlying genetic causes of rare disorders rather than managing symptoms alone. These therapies aim to correct, replace, or modify defective genes or cellular functions, offering the potential for long-term or curative outcomes in diseases with high unmet need. Rare disorders collectively affect a large global population, despite each condition being individually uncommon. Many of these diseases are driven by single-gene mutations or well-defined molecular defects, making them well-suited for targeted genetic interventions. Advances in viral vectors, gene editing platforms (such as CRISPR-based technologies), and cell engineering techniques have significantly accelerated therapeutic development in this space. Cell therapies typically involve the modification or replacement of diseased cells, while gene therapies focus on delivering functional genes or correcting genetic mutations in vivo or ex vivo. Together, these approaches are transforming the treatment landscape by shifting care from chronic disease management to one-time or durable therapeutic interventions.

Rare Disorders Diagnosis

Diagnosis of rare disorders often involves a complex and lengthy process due to the heterogeneous nature of symptoms and limited disease awareness. It typically begins with clinical evaluation and patient history, followed by targeted laboratory tests and imaging based on presenting features.

Definitive diagnosis is increasingly supported by genetic testing techniques such as next-generation sequencing (NGS), whole exome sequencing (WES), and whole genome sequencing (WGS), which help identify underlying gene mutations or molecular defects. Early and accurate diagnosis is critical for enabling timely intervention, including eligibility for cell and gene therapies in applicable cases.

Cell and Gene Therapies in Rare Disorders Epidemiology

Key Findings from Cell and Gene Therapies in Rare Disorders Epidemiological Analysis and Forecast

• As per estimates in the US, there were nearly 9,300 diagnosed prevalent cases of Fabry disease in 2020. This trend is anticipated to increase during the study period, i.e., 2022-2036.
• The total diagnosed prevalent cases of retinitis pigmentosa were ~274,000 in the 7MM in 2025.
• According to the National Institutes of Health Genetics Home Reference, Fabry disease affects an estimated 1 in 40,000 to 60,000 males in the United States.
• According to the estimates, severe Hemophilia A cases are more prominent in comparison to mild and moderate. Additionally, moderate and severe accounts for 61% of the Hemophilia A patient pool.
• According to DelveInsight's estimates, the total prevalent cases of Hemophilia B in the 7MM were approximately 11,500 in 2025.
• In 2025, the number of amyotrophic lateral sclerosis (ALS) cases in the United States was ~30,000.

Scope of the Report:

• The report covers a segment of an executive summary, a descriptive overview of Cell and Gene Therapies in Rare Disorders, explaining its causes, signs and symptoms, and pathogenesis.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of the diagnosis rate, and disease progression.

Report Insights

Cell and Gene Therapies in Rare Disorders Patient Population Forecast

Report Key Strengths

• Epidemiology-based (Epi-based) Bottom-up Forecasting
• 11-year Forecast
• Patient Burden Trends (by geography)

FAQs:

• What are the disease risks, burdens, and unmet needs of cell and gene therapies in rare disorders? What will be the growth opportunities across the 7MM concerning the patient population with cell and gene therapies in rare disorders?
• What is the historical and forecasted cell and gene therapies in the rare disorders patient pool in the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?

Reasons to Buy:

• 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 key opinion leaders' perspectives on the diagnostic challenges to overcome barriers in the future.
• Detailed insights into various factors hampering disease diagnosis and other existing diagnostic challenges.