Cell and Gene Therapies in Rare Disorders - Market Insights, Epidemiology, and Market 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.
• Companies across the globe are thoroughly working toward the development of new cell and gene therapies options to treat a wide array of indications such as hemophilia A and B, lysosomal storage disorder [Fabry, Pompe Disease, Danon Disease, Mucopolysaccharidoses (MPS) I, II, and III], neurological disorders (Batten, Parkinson), musculoskeletal disorders (DMD, myotubular myopathy, LGMD), eye diseases (achromatopsia, choroideremia, retinitis pigmentosa, etc.), and numerous other indications. From an innovation standpoint, although gene and cell therapies involve high upfront costs, they may ultimately lower long-term healthcare expenses and help ease the burden on overstretched healthcare systems.
• Gene and cell therapies have the potential to provide durable, long-term solutions, with some designed as one-time treatments. This approach can reduce or eliminate the need for lifelong therapy, potentially extending survival, slowing disease progression, and enhancing overall quality of life for patients.
• A few examples of cell and gene therapies approved for patients in rare disorders are HEMGENIX (uniQure), LUXTURNA (Spark Therapeutics), ZOLGENSMA (Novartis), ZYNTEGLO (Bluebird Bio), and others.
• Gene therapy also comes with risks. Ongoing clinical trials are being conducted in people across many categories to determine the potential risks of treatment with gene therapy. The risk depends on the type of gene therapy, type of vector, and administration method, and some risks can be serious.
• Gene and cell therapies hold significant promise for treating rare and ultra-rare diseases. However, despite showing safety and effectiveness in preclinical and early clinical studies, many of these therapies fail to progress further. This gap reflects a market challenge where scientifically viable treatments do not reach patients due to limited commercial feasibility.

Cell and Gene Therapies in Rare Disorders Market Size and Forecast in the 7MM

• 2025 Projected Cell and Gene Therapies in Rare Disorders Market Size: ~USD 5.00 billion
• Cell and Gene Therapies in Rare Disorders Growth Rate (2026-2036): ~15% CAGR

Numbers are subject to change with report updation, clinical information updates etc..

The ‘Cell and Gene Therapies in Rare Disorders - Market Insights, Epidemiology and Market Forecast - 2036’ report delivers an in-depth understanding of the cell and gene therapies in rare disorders, historical and forecasted epidemiology, as well as the Cell and Gene Therapies in Rare Disorders market trends in the United States, EU4 (Germany, Spain, Italy, and France) and the United Kingdom, and Japan.

The Cell and Gene Therapies in Rare Disorders market report delivers a comprehensive analysis of the current treatment landscape, including standards of care, clinical practices, and evolving therapeutic algorithms. It evaluates cell and gene therapies in rare disorders patient burden trends, revenue & market share dynamics, peak patient share & therapy uptake analysis, and provides an in-depth market size assessment, and growth rate projections (Historical & Forecast 2022-2036) across global regions. The report highlights key unmet medical needs in cell and gene therapies in rare disorders and maps the competitive and clinical landscape to uncover high‑value opportunities, providing a clear outlook on future market growth potential.

Key Factors Driving the Cell and Gene Therapies in Rare Disorders Market

Rising Prevalence of Rare Disorders

The burden of rare disorders is steadily increasing, driven by improved diagnostic capabilities, genetic screening, and greater disease awareness. Although individually uncommon, these conditions collectively affect a significant global population, creating a growing demand for advanced therapeutic options, including gene and cell therapies.

Rising Opportunities in Cell and Gene Therapies for Rare Disorders

Emerging opportunities in cell and gene therapies are fueled by advances in gene editing technologies, viral and non-viral delivery systems, and precision medicine strategies targeting underlying genetic defects. Additionally, increasing research into next-generation vectors, in vivo gene therapies, and combination approaches is expanding the treatment landscape beyond traditional supportive care, offering the potential for durable or curative outcomes in rare diseases.

Emerging Cell and Gene Therapies for Rare Disorders Competitive Landscape

Emerging cell and gene therapies for rare disorders include Isaralgagene civaparvovec (ST-920), RGX-121, Deramiocel (CAP-1002), and others, representing a growing pipeline of gene and cell-based approaches aimed at providing one-time, disease-modifying or potentially curative treatments for rare genetic conditions.

Cell and Gene Therapies in Rare Disorders Understanding and Treatment Algorithm

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 as Treatment

Cell and gene therapies are increasingly central to the management of rare disorders, offering targeted, disease-modifying, and potentially curative approaches by correcting or compensating for the underlying genetic defect. Treatment begins with precise genetic diagnosis and patient stratification, followed by selection of an appropriate modality such as in vivo gene therapy (direct gene delivery using viral or non-viral vectors) or ex vivo cell therapy (genetically modified cells reintroduced into the patient). These therapies are often administered as one-time or limited-dose interventions, aiming to provide durable clinical benefit and reduce lifelong treatment dependence. Post-treatment care is critical and includes long-term follow-up to monitor efficacy, immune response, vector safety, and sustained gene expression or cellular function. Overall, these approaches are transforming rare disease management from chronic symptomatic care to precision-driven, potentially one-time curative treatment strategies.

Cell and Gene Therapies in Rare Disorders Unmet Needs

The section “unmet needs of Cell and Gene Therapies in Rare Disorders” outlines the critical gaps between the current state of patient care, diagnosis, and the ideal & effective management of the disease. It highlights the obstacles experienced by patients, clinicians, and researchers and identifies potential solutions for future progress.

• High cost and limited affordability are restricting patient access
• Manufacturing and scalability challenges are limiting large-scale production
• Delivery limitations affecting tissue targeting and treatment consistency
• Lack of robust long-term safety and efficacy data
• Delayed diagnosis and underdiagnosis of rare disorders, and others…..

Comprehensive unmet needs insights in cell and gene therapies in rare disorders and their strategic implications are provided in the full report.

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 Haemophilia A cases are more prominent in comparison to mild and moderate cases. Additionally, moderate and severe accounts for 61% of the Haemophilia A patient pool.
• According to the publisher’s estimates, the total prevalent cases of Haemophilia 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.

Cell and Gene Therapies in Rare Disorders: Drug Chapters & Competitive Analysis

The rare disorders drug chapter provides a detailed, market-focused review of approved therapies and the emerging pipeline across Phase I-III clinical trials. It covers the mechanism of action, clinical trial data, regulatory approvals, patents, collaborations, and strategic partnerships for each therapy, along with their advantages, limitations, and recent developments. This section offers critical insights into the rare disorders treatment landscape, supporting market assessment, competitive analysis, and growth forecasting for the rare disorders therapeutics market.

Approved Therapies for Cell and Gene Therapies in Rare Disorders

Etranacogene dezaparvovec-drlb (HEMGENIX): uniQure and CSL Behring

HEMGENIX is a gene therapy that reduces the rate of abnormal bleeding in eligible people with haemophilia B by enabling the body to continuously produce factor IX, the deficient protein in haemophilia B. It uses AAV5, a non-infectious viral vector, called an adeno-associated virus (AAV). The AAV5 vector carries the Padua gene variant of Factor IX (FIX-Padua) to the target cells in the liver, generating factor IX proteins that are 5x-8x more active than normal. These genetic instructions remain in the target cells, but generally do not become a part of a person's own DNA. Once delivered, the new genetic instructions allow the cellular machinery to produce stable levels of factor IX.

Cell and Gene Therapies in Rare Disorders Pipeline Analysis

RGX-121: REGENXBIO

RGX-121 is an investigational, one-time gene therapy designed to deliver the iduronate 2-sulfatase (IDS) gene that encodes the iduronate 2-sulfatase (I2S) enzyme using the NAV AAV9 vector. The RGX-121 expressed protein is structurally identical to normal I2S. RGX-121 is administered directly to the central nervous system (CNS) using intracisternal or intracerebroventricular delivery. Delivery of the IDS gene within cells in the CNS could provide a permanent source of secreted I2S beyond the BBB, allowing for long-term cross-correction of cells throughout the CNS.

The BLA for RGX-121 for MPS II was supported by positive biomarker, functional and safety data from the CAMPSIITE I/II/III trial, including out to 12 months. RGX-121 has been well tolerated in all patients dosed across all phases of the CAMPSIITE trial.

It has received Orphan Drug Designation (ODD), Rare Pediatric Disease, Fast Track Designation (FTD), and Regenerative Medicine Advanced Therapy (RMAT) designations from the US FDA and Advanced Therapy Medicinal Products (ATMP) classification from the EMA.

Cell and Gene Therapies in Rare Disorders Key Players, Market Leaders and Emerging Companies

• Sarepta Therapeutics
• uniQure
• CSL Behring
• Bluebird Bio
• Sangamo Therapeutics
• Regenxbio
• Capricor Therapeutics
• Nippon Shinyaku, and others

Cell and Gene Therapies in Rare Disorders Drug Updates

• As of March 2026, CSL Behring announced a temporary global stockout due to manufacturing complexities, though 5-year data confirm high efficacy, with 94% of patients remaining free from Factor IX prophylaxis.
• In February 2026, REGENXBIO announced that the US Food and Drug Administration (FDA) had issued a Complete Response Letter (CRL) regarding its Biologics License Application (BLA) for RGX-121 (clemidsogene lanparvovec) for the treatment of Mucopolysaccharidosis II (MPS II), an ultra-rare neurodegenerative disease also known as Hunter syndrome.
• In December 2025, Sangamo Therapeutics initiated a rolling submission of a BLA to the FDA seeking accelerated approval of isaralgagene civaparvovec, or ST-920, a wholly owned investigational gene therapy for the treatment of adults with Fabry disease.
• In December 2025, Capricor Therapeutics announced positive topline results from its pivotal Phase III HOPE-3 trial evaluating Deramiocel for the treatment of DMD.
• In November 2025, Sarepta Therapeutics announced an update to the prescribing information for ELEVIDYS (delandistrogene moxeparvovec-rokl), the only approved gene therapy for DMD.
• In July 2025, the US FDA issued a Complete Response Letter (CRL) for Capricor’s BLA for Deramiocel (CAP-1002), an investigational cell therapy for Duchenne cardiomyopathy.

Drug Class Insights

Cell and Gene Therapies in Rare Disorders Market Outlook

Cell and gene therapies in rare disorders market is expected to grow with a significant high rate during the forecast period (2026-2036), and mainly driven by an increase in approval of growing number of gene therapies and readily adoption on approval, ability to treat a broad array of conditions, increase in the number of cases, expected one-time dosing approach and curative treatment options. The cell and gene therapies in the rare disorders market are expected to witness strong growth, driven by increasing approvals, expanding clinical pipelines, and a shift toward one-time, potentially curative treatments. The market includes both approved marketed therapies, such as LUXTURNA, HEMGENIX, ZYNTEGLO, and others, which have already established regulatory pathways and demonstrated the feasibility of cell and gene-based interventions in rare diseases.

At the same time, the landscape is rapidly expanding with emerging therapies targeting a wide range of genetic disorders, including RGX-121, Isaralgagene civaparvovec (ST-920), CAP-1002 (Deramiocel) and others, reflecting a robust innovation pipeline across lysosomal storage disorders, neuromuscular diseases, and retinal conditions. These advances are supported by improvements in AAV vectors, gene editing technologies, and cell engineering platforms, which continue to broaden therapeutic applications.

However, despite strong clinical momentum, the sector has also faced setbacks, including CRL from regulatory authorities, clinical holds, manufacturing challenges, and commercial failures, highlighting the complexity of translating scientific success into market success. Issues such as high therapy cost, reimbursement uncertainty, limited patient reach, and long-term safety concerns continue to impact adoption and commercialization.

• According to the estimates, the largest market size of Cell and Gene Therapies in Rare Disorders was captured by the United States, i.e., ~USD 2.00 billion in 2025.
• In 2025, the cell and gene therapy market is primarily driven by key indications, including Haemophilia A, Haemophilia B, Sickle Cell Disease, and Spinal Muscular Atrophy (SMA), which together represent the largest share of commercial and clinical activity due to their high unmet need, strong genetic basis, and availability of advanced one-time or long-acting gene therapies.
• The entry of mid- to late-stage candidates in the cell and gene therapy rare disorders landscape is expected to intensify competition during the forecast period, as advancing pipelines and expanding clinical development are likely to increase regulatory approvals, market penetration, and therapeutic adoption across multiple rare disease indications.

Numbers are subject to change with report updation, clinical information updates etc. Further details will be provided in the report….

Drug Class/Insights into Leading Emerging and Marketed Therapies in Cell and Gene Therapies in Rare Disorders (2022-2036 Forecast)

The Cell and gene therapies in rare disorders market are driven by diverse mechanisms of action (MoA), including gene replacement, gene editing, and cell-based regeneration. Marketed therapies such as AAV-based gene therapies (e.g., LUXTURNA, ZOLGENSMA, HEMGENIX) and ex vivo lentiviral gene therapies (e.g., LIBMELDY, SKYSONA) work by restoring or adding functional genes to correct underlying defects. Emerging therapies are increasingly focused on CRISPR-based gene editing, next-generation AAV delivery systems, and cell-based reparative approaches, enabling more precise and durable disease correction. Overall, the field is shifting toward one-time, potentially curative treatments with improved targeting and long-term efficacy.

Cell and Gene Therapies in Rare Disorders Drug Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during the forecast period (2026-2036). The analysis covers cell and gene therapies in rare disorders, the market’s uptake by drugs, patient uptake by therapy, and sales of each drug.

The cell and gene therapy landscape is witnessing a moderate-to-rapid uptake trajectory, driven by increasing approvals of one-time, potentially curative therapies targeting the underlying genetic causes of disease. Recently marketed therapies such as LUXTURNA, HEMGENIX, ZYNTEGLO, LIBMELDY, SKYSONA, and others demonstrate strong uptake in high-unmet-need indications like haemophilia, spinal muscular atrophy, and inherited retinal disorders, supported by robust clinical efficacy and long-term benefit potential.

Emerging therapies, including RGX-121, Isaralgagene civaparvovec (ST-920), CAP-1002 (Deramiocel), EDIT-301, and other gene editing and AAV-based candidates, are expected to show gradual to moderate uptake initially, followed by accelerated adoption as regulatory approvals expand and manufacturing scalability improves. Uptake is being further supported by advancements in gene editing technologies, improved vector delivery systems, and expanding clinical evidence for durable outcomes.

Cell and Gene Therapies in Rare Disorders Therapies Price Scenario & Trends

Pricing and analogue assessment of cell and gene therapies in rare disorders highlights evolving price dynamics structures. This section summarizes the cost of approved treatments, the closest and most appropriate analogue selection for emerging therapies, and the understanding of how pricing influences market access, adherence, and long-term uptake.

Industry Experts and Physician Views for Cell and Gene Therapies in Rare Disorders

To keep up with cell and gene therapies in the rare disorders market trends, we take Key Opinion Leaders (KOLs) and Subject Matter Experts (SMEs) opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry experts were contacted for insights on the cell and gene therapies in rare disorders, evolving treatment landscape, patient adherence to conventional therapies, therapy switching trends, drug adoption and uptake, accessibility challenges, and epidemiology and real-world prescription patterns in Cell and Gene Therapies in Rare Disorders, including MD, PhD, Instructor, Postdoctoral Researcher, Professor, Researcher, and others.

The analysts connected with 10+ KOLs to gather insights; however, interviews were conducted with 6+ KOLs in the 7MM. Centres such as the University of North Carolina at Chapel Hill, the Berlin Institute of Health at Charité, and the University of Nottingham, etc. were contacted. Their opinion helps understand and validate current and emerging cell and gene therapies in rare disorders therapies, highlight unmet medical needs, provide epidemiological context, and support strategic decisions for market access, therapy adoption, and pipeline prioritisation in cell and gene therapies in rare disorders.

Qualitative Analysis: SWOT and Conjoint Analysis

We perform qualitative and market Intelligence analysis using various approaches, such as SWOT analysis and conjoint analysis.

In the SWOT analysis of Cell and Gene Therapies in Rare Disorders, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided.

Conjoint analysis analyzes emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy.

The team of analysts analyzes promising emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. In efficacy, the trial’s primary and secondary outcome measures are evaluated, whereas the therapies’ safety is evaluated, wherein the acceptability, tolerability, and adverse events are mainly observed. In addition, the scoring is also based on the route of administration, order of entry, probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Scope of the Report

• The report covers a segment of key events, an executive summary, a descriptive overview of cell and gene therapies in rare disorders, explaining rare disorders' causes, signs and symptoms, pathogenesis, and currently available treatments.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of the diagnosis rate, and disease progression along treatment guidelines.
• Additionally, an all-inclusive account of both the current and emerging treatments, along with the elaborate profiles of late-stage and prominent therapies, will have an impact on the current treatment landscape.
• A detailed review of the cell and gene therapies in rare disorders market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies by understanding trends through SWOT analysis and expert insights/KOL views, patient journey, and treatment preferences that help in shaping and driving the 7MM cell and gene therapies in the rare disorders market.

Report Insights

• Cell and Gene Therapies in Rare Disorders Patient Population Forecast
• Cell and Gene Therapies in Rare Disorders Therapeutics Market Size
• Cell and Gene Therapies in Rare Disorders Pipeline Analysis
• Cell and Gene Therapies in Rare Disorders Market Size and Trends
• Cell and Gene Therapies in Rare Disorders Market Opportunity (Current and forecasted)

Report Key Strengths

• Epidemiology‑based (Epi‑based) Bottom‑up Forecasting
• Artificial Intelligence (AI)-enabled Market Research Report
• 11-year forecast
• Cell and Gene Therapies in Rare Disorders Market Outlook (North America, Europe, Asia-Pacific)
• Patient Burden Trends (by geography)
• Cell and Gene Therapies in Rare Disorders Treatment Addressable Market (TAM)

Cell and Gene Therapies in Rare Disorders Competitive Landscape

• Cell and Gene Therapies in Rare Disorders Major Companies Insights
• Cell and Gene Therapies in Rare Disorders Price Trends and Analogue Assessment
• Cell and Gene Therapies in Rare Disorders Therapies Drug Adoption/Uptake
• Cell and Gene Therapies in Rare Disorders Therapies Peak Patient Share analysis

Report Assessment

• Cell and Gene Therapies in Rare Disorders Current Treatment Practices
• Cell and Gene Therapies in Rare Disorders Unmet Needs
• Cell and Gene Therapies in Rare Disorders Clinical Development Analysis
• Cell and Gene Therapies in Rare Disorders Emerging Drugs Product Profiles
• Cell and Gene Therapies in Rare Disorders Market Attractiveness
• Cell and Gene Therapies in Rare Disorders Qualitative Analysis (SWOT and Conjoint Analysis)

FAQs

Market Insights

• What was the cell and gene therapies in rare disorders market size, the market size by therapies, market share (%) distribution in 2025, and what would it look like by 2036? What are the contributing factors for this growth?
• What are the anticipated pricing variations among different geographies for the emerging therapies in the future?
• What can be the future treatment paradigm of cell and gene therapies in rare disorders?
• 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?
• Who is the major future competitor in the market, and how will the competitors affect their market share?
• What are the current options for the treatment of cell and gene therapies in rare disorders? What are the current guidelines for treating Cell and Gene Therapies in Rare Disorders in the US, Europe, and Japan?

Reasons to Buy

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the cell and gene therapies in rare disorders market.
• Bottom up forecasting builds from the affected population to product forecasts, delivering a robust, data driven approach ideal for new therapies and novel classes.
• Insights on patient burden/disease incidence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• Understand the existing market opportunities in varying geographies and the growth potential over the coming years.
• Identifying strong upcoming players in the market will help devise strategies to help get ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the conjoint analysis section to provide visibility around leading classes.
• To understand KOLs’ perspectives on 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.

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