Cell and Gene Therapies in Rare Disorders - Market Insights, Epidemiology and Market Forecast - 2032

Key Highlights

• Over the next few years, it is anticipated that the field of cell and gene therapies in rare indications will expand quickly as a growing number of companies receive investigational new drug applications each year for these treatments, along with rising regulatory approval in the United States and Europe.
• In addition, the market for cell therapies in rare disorders continues to grow as more clinical studies are conducted globally. Among the 7MM, Japan is experiencing the most rapid development and regulatory approval. While there has been some early success, cell therapy in the rare disorder market has yet to be well-established in many therapeutic areas. More stem cell therapies are approved in the ophthalmology segment (Limbal stem cell deficiency [LSCD]). There is still plenty of room for improvement in the therapeutic and diagnostic areas.
• There is more competition for contract manufacturing businesses and pharmaceutical and biotechnology firms. The competition for contract manufacturing organization production capacity will intensify as more companies enter the gene therapy market, possibly driving up manufacturing costs. To ensure pharmaceutical/biotechnology firms can compete or obtain an advantage over competitors, companies may need to invest in manufacturing technologies or acquire companies with manufacturing expertise.
• Ex vivo and in vivo gene therapies contribute to the market's overall growth, and cell therapies ought to have a small market.
• Our in-depth analysis of the pipeline assets across different stages of development (Phase III and Phase II), different emerging trends, and comparative analysis of pipeline products with detailed clinical profiles, key cross-competition, launch date along with product development activities will support the clients in the decision-making process regarding their therapeutic portfolio by identifying the overall scenario of the research and development activities.

This “Cell and Gene Therapies in Rare Disorders - Market Insights, Epidemiology and Market Forecast - 2032 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, France, Italy, and Spain) and the United Kingdom, and Japan.

The cell and gene therapies in rare disorders market report provides current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted 7MM cell and gene therapies in rare disorders market size from 2019 to 2032. The report also covers current cell and gene therapies in rare disorders treatment practices/algorithms and unmet medical needs to curate the best opportunities and assess the market's underlying potential.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2019-2032

Cell and Gene Therapies in Rare Disorders Disease Understanding

Cell and Gene Therapies in Rare Disorders Overview

Cell and gene therapies use genes and cells to treat disease. A gene is the unit of DNA that contains hereditary information passed down from generation to generation. All genes are called the genome; genes may contain information about visible traits, such as height or eye color. Many genes contain instructions for RNA or protein molecules that are not visible outside but perform important functions in the body's cells. Cells are the building blocks of plants and animals (including humans); they are small functional units that work together to form organs and tissues.

Gene therapy is the use of genetic material to treat genetic diseases. This may involve adding a wild-type copy of the gene (gene addition) or altering a gene with a mutation to the wild-type gene (gene editing). The treatment may occur outside the body (ex vivo) or inside the body (in vivo). Modified viruses or other vectors are used to get the gene into the genome inside the cells. Cell therapy uses cells from the patient themselves or a donor to treat diseases. Cells used for cell therapy are often stem cells, which can mature into specialized cells. Cells used for cell therapy may or may not be genetically altered. It is sometimes easier to remove cells from the body, treat them with gene therapy and then place them back than treat the cells inside the body. This is the case for gene therapy for blood disorders; cell and gene therapies often go together.

Cell and gene therapy technology is evolving rapidly for many different diseases. However, cell and gene therapies remain experimental medicines, and much more research is needed before many of these therapies are available to patients worldwide.

Cell and Gene Therapies in Rare Disorders Epidemiology

As the market is derived using a patient-based model, the Cell and Gene Therapies in Rare Disorders epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by total prevalent cases of selected indications for cell and gene therapies in rare disorders, total indication-wise eligible cases, and indication-wise treated cases of cell and gene therapies in rare disorders in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain), United Kingdom, and Japan from 2019 to 2032.

The total prevalent cases of selected indications for Cell and Gene Therapies in Rare Disorders in the 7MM comprised approximately 900,000 in 2022 and are projected to increase during the forecasted period

• Among all the rare indications selected for Cell and Therapies, the highest cases were for Retinitis Pigmentosa, followed by Limbal Stem Cell Deficiency in 2019.
• Also, in the 7MM, the total treated cases of indication-wise cell and gene therapies were approximately 500,000 in 2022, which is expected to grow during the forecast period, i.e., 2023-2032.

Cell and Gene Therapies in Rare Disorders Drug Chapters

The drug chapter segment of the cell and gene therapies in rare disorders encloses a detailed analysis of cell and gene therapies in rare disorders marketed drugs and late-stage (Phase III and Phase II) pipeline drugs. It also helps understand the cell and gene therapies in rare disorders clinical trial details, expressive pharmacological action, agreements and collaborations, approval and patent details, advantages and disadvantages of each included drug, and the latest news and press releases.

Marketed Drugs

ZOLGENSMA (AVXS-101): Novartis/AveXis

ZOLGENSMA (onasemnogene abeparvovec-xioi), previously known as AVXS-101, is a proprietary gene therapy of Novartis designed for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene.

In May 2019, the US FDA approved ZOLGENSMA for treating pediatric patients less than 2 years with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene. In May 2020, the European Commission (EC) granted conditional approval for ZOLGENSMA for treating patients with 5q SMA with a bi-allelic mutation in the SMN1 gene and a clinical diagnosis of SMA Type 1; or for patients with 5q SMA with a bi-allelic mutation in the SMN1 gene and up to three copies of the SMN2 gene. According to the approved dosing guidance, the approval covers babies and young children with SMA up to 21 kg.

LUXTURNA: Spark Therapeutics (Roche)/Novartis

LUXTURNA (AAV2-hRPE65v2), known as voretigene neparvovec-rzyl, is a one-time gene therapy for the treatment of patients with vision loss due to a genetic mutation in both copies of the RPE65 gene. The drug was developed and commercialized in the US by Spark Therapeutics. In Europe, Novartis is currently marketing LUXTURNA as per a licensing agreement covering the development, registration, and commercialization rights of LUXTURNA in markets outside the US. It is indicated for the treatment of patients with vision loss due to Leber's congenital amaurosis or retinitis pigmentosa inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations.

In December 2017, FDA Approved Spark Therapeutics' LUXTURNA, as a one-time gene therapy for Patients with Confirmed Bi-allelic RPE65 Mutation-associated Retinal Dystrophy. In November 2018, Novartis announced that the European Commission (EU) approved LUXTURNA, one-time gene therapy for the treatment of patients with vision loss due to a genetic mutation in both copies of the RPE65 gene and who have enough viable retinal cells. The authorization is valid in all 28 member states of the EU, Iceland, Liechtenstein, and Norway.

Note: Detailed Current therapies assessment will be provided in the full report of Cell and Gene Therapies in Rare Disorder

Emerging Drugs

Fidanacogene elaparvovec (SPK-9001/PF-06838435): Pfizer/Spark Therapeutics

Fidanacogene elaparvovec, previously SPK-9001 or PF-06838435, is a novel, investigational bio-engineered AAV vector utilizing a high-activity F9 transgene for hemophilia B or factor IX deficiency.

Currently, SPK-9001 is under Phase III (NCT03861273) clinical trial study wherein the study will evaluate the efficacy and safety of SPK-9001 (a gene therapy drug) in adult male participants with moderately severe to severe hemophilia B (participants that have a Factor IX circulating activity of 2% or less). The study's main objectives are to compare the annualized bleeding rate [ABR] of the gene therapy to routine prophylaxis from the lead-in study and to evaluate its impact on the participant's Factor IX circulating activity [FIX:C]. This study includes 55 participants, with an estimated completion date of May 2027. The company anticipated the pivotal trial readout in the first quarter of 2023.

Pfizer anticipated to discuss BENEGENE-2 data with regulatory authorities in early 2023 and additional key data at a scientific conference in early 2023.

AT-GTX-502 (scAAV9.P546.CLN3): Amicus Therapeutics

Amicus Therapeutics is developing adeno-associated virus serotype 9 AAV9-CLN3 (AAV9-CLN3) gene therapy for children with CLN3 Batten disease. The company is leading a Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9. Batten disease is caused by mutations in one of 14 different genes, designated CLN1 to CLN14. The mutated gene does not work properly, ultimately leading to disease. The idea behind gene therapy is to deliver a working version of the gene into a patient's cells - conceptually, replacing the faulty gene.

In May 2020, the US FDA granted fast-track designation to AT-GTX-502 for Batten disease caused by mutations in the CLN3 gene.

FLT190: Freeline Therapeutics

FLT190 is a next-generation gene therapy that uses an AAV8 as a vehicle to deliver a healthy copy of the GLA gene in the hopes that it will induce the production of normal alpha-GAL A. In contrast to the regular infusions of enzyme replacement therapy (ERT), this gene therapy is designed to be given in a single dose. Preclinical data using a gene therapy platform for expressing the enzyme a-galactosidase A (GLA) has demonstrated safety and efficacy in various animal models.

RGX-121: Regenxbio

RGX-121 is being developed as a novel, one-time treatment for MPS II, which is directly administered intra-cisternally into the CNS. It includes the NAV AAV9 vector encoding for human IDS (iduronate-2-sulfatase). Treatment with RGX-121 has been shown to restore IDS enzyme activity in animal models of MPS II to levels equivalent to or greater than those in non-affected animals. The extent of CNS correction in animal studies suggests that RGX-121 has the potential to be an important and suitable therapeutic option for MPS II patients.

REGENXBIO announced its intention to file a BLA in 2024 using the FDA's accelerated approval pathway for RGX-121 for treating Mucopolysaccharidosis Type II (MPS II). The company also announced that a pivotal program for RGX-121 is active and enrolling patients

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

Cell and Gene Therapies in Rare Disorders Market Outlook

Approval of LIBMELDY, SKYSONA, HOLOCLAR, UPSTAZA, ROCTAVIAN, and other therapies has successfully paved regulatory pathways of other cell and gene therapies currently under development. The dynamics of the cell and gene therapies market are anticipated to change as 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, MPS I, MPS II, MPS III), neurological disorders (Batten, Parkinson), musculoskeletal disorders (DMD, myotubular myopathy, LGMD), eye diseases (achromatopsia, choroideremia, limbal stem cell deficiency, retinitis pigmentosa, retinoschisis, age-related macular degeneration, Leber's hereditary optic neuropathy), and other indications such as diabetic macular edema, inborn metabolism disorder (Wilson's disease, Phenylketonuria, OTC deficiency/urea cycle disorders), dystrophic epidermolysis bullosa, gangliosidosis, and xerostomia.

In the past few years, the treatment landscape of many diseases has rapidly changed. Now companies are developing cell and gene therapies that will have a promising role in the future, especially for treating rare genetic diseases. The task of defining appropriate candidates for given gene therapy and cell therapy will need to await the enrollment and long-term follow-up of a sufficient number of study subjects to provide acceptable clarity about its safety and efficacy. To summarize, the outlook for cell and gene therapies is promising. Various clinical trials have been fairly positive in terms of safety and efficacy. The results of these studies encourage further investigation into multiple indications, and the current scenario also anticipates a positive shift in the market for the forecast period.

Key players like Pfizer, Ultragenyx Pharmaceutical, Krystal Biotech, Abeona Therapeutics, Roche, Spark Therapeutics, and others are evaluating their lead candidates in different stages of clinical development, respectively.

• The market size in the 7MM will increase at a CAGR of 35% `due to increasing awareness of the disease and the launch of the emerging therapies.
• The total market size of cell and gene therapies in rare disorders in the US is approximately USD 600 million in 2022 and is projected to increase during the forecast period (2023-2032).
• In 2032, among all the indications, the highest revenue is expected to generate from Hemophilia A, accounting for approximately USD 6 billion, followed by Retinitis Pigmentosa in the 7MM.
• Among EU4 countries, Germany accounted for the maximum market size in 2022, while Spain occupied the bottom of the ladder.
• In Japan, among all the indications, the highest revenue were estimated to generated by Hemophilia A, followed by Limbal Stem Cell Deficiency in 2032.

Cell and Gene Therapies in Rare Disorders Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during 2019-2032. Among the selected indications, Hemophilia A is expected to contribute the maximum in revenue by 2032 owing to the maximum number of gene therapies expected to enter the market, the precedence of existing high treatment costs for these therapies, and also significant residual unmet need. Whereas, among the selected therapies, ROCTAVIAN is expected to generate the maximum revenue by 2032 in the 7MM.

Further detailed analysis of emerging therapies drug uptake in the report.

Cell and Gene Therapies in Rare Disorders Pipeline Development Activities

The report provides insights into different therapeutic candidates across the various therapy areas selected based on factors like the highest pipeline activity, early-stage assets where trial results are available, mid or late-stage assets, and already available products in the market.

Pipeline Development Activities

The report covers information on collaborations, acquisitions and mergers, licensing, and patent details for Cell and Gene Therapies in Rare Disorders emerging therapies.

KOL Views

To keep up with current market trends, we take KOLs and 'SME's 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 Cell and Gene Therapies in Rare Disorders evolving treatment landscape, patient reliance on conventional therapies, patient's therapy switching acceptability, and drug uptake along with challenges related to accessibility.

This analysts connected with 50+ KOLs to gather insights; however, interviews were conducted with 15+ KOLs in the 7MM. Centers such as Pharmaceutical Research and Manufacturers of America and other organizations. Their opinion helps understand and validate current and emerging therapies or market trends in Cell and Gene Therapies in Rare Disorders. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Qualitative Analysis

The publisher performs Qualitative and market Intelligence analysis using various approaches, such as SWOT and Conjoint Analysis. In the SWOT analysis, 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. These pointers are based on the Analyst's discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape.

Conjoint Analysis analyzes multiple approved and 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.

Further, the therapies' safety is evaluated wherein the acceptability, tolerability, and adverse events are majorly observed, and it sets a clear understanding of the side effects posed by the drug in the trials. In addition, the scoring is also based on the route of administration, order of entry and designation, 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.

Market Access and Reimbursement

Gene therapy-related production, research, and development costs are considerably higher than traditional biologics and fall between USD 500,000 and USD 1 million. Besides, these treatments are only offered as one-time injections and are only available to a minimal pool of patients, leading to higher price tags. To handle the financial consequences associated with these medications, the payment environment in the US is still under-equipped, so pharmaceutical firms need to consider new business models and pursue collaborations with several stakeholders, including private payers and the government, to ensure that these groundbreaking therapies are readily available and economically viable.

In 2019, LUXTURNA was recommended by NICE, within its marketing authorization, as an option for treating RPE65-mediated inherited retinal dystrophies in people with vision loss caused by inherited retinal dystrophy from confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells. It was only recommended if the company provides LUXTURNA according to the commercial arrangement. In addition, LUXTURNA received ‘considerable added benefit' from G-BA, the German health technology assessment. LUXTURNA was launched in Germany in April 2019 at the manufacturer price of EUR 345,000 per eye per patient.

Scope of the Report

• The report covers an overview of the development of Cell and Gene Therapies, its types, vectors in gene therapy, the risk associated with cell and gene therapy, and challenges in cell and gene therapies.
• Comprehensive insight has been provided into the Cell and Gene Therapies epidemiology and treatment in the 7MM.
• Additionally, an all-inclusive account of the current and emerging therapies for Cell and Gene Therapies is provided, along with the assessment of new therapies that will impact the current treatment landscape.
• A detailed review of the Cell and Gene Therapies in the Rare Disorders market, historical, and forecasted, is included in the report, covering drug outreach in the 7MM.
• The report provides an edge while developing business strategies by understanding trends shaping and driving the global Cell and Based Gene Therapies market in Rare Disorders.

Cell and Gene Therapies in Rare Disorders Report Insights

• Patient Population
• Therapeutic Approaches
• Cell and Gene Therapies in Rare Disorders Pipeline Analysis
• Cell and Gene Therapies in Rare Disorders Market Size and Trends
• Existing and Future Market Opportunity

Cell and Gene Therapies in Rare Disorders Report Key Strengths

• Ten Years Forecast
• 7MM Coverage
• Cell and Gene Therapies in Rare Disorders Epidemiology Segmentation
• Key Cross Competition
• Conjoint Analysis
• Drugs Uptake and Key Market Forecast Assumptions

Cell and Gene Therapies in Rare Disorders Report Assessment

• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT and Conjoint Analysis)

Key Questions Answered

Market insights

• What was the cell and gene therapies in rare disorders Market share (%) distribution in 2019, and what would it look like in 2032?
• What are the key findings pertaining to the market across the 7MM, and which country will have the largest cell and gene therapies in rare disorders market size during the study period (2019-2032)?
• At what CAGR is the cell and gene therapies in rare disorders market expected to grow in the 7MM during the study period (2019-2032)?
• What would be the market outlook of cell and gene therapies in rare disorders across the 7MM during the study period (2019-2032)?
• Cell and Gene Therapies in Rare Disorders patient types/pool where unmet need is more and whether emerging therapies can address the residual unmet need?
• How are emerging therapies performing on the parameters like efficacy, safety, route of administration (RoA), treatment duration, and frequencies based on their clinical trial results?
• Among the emerging therapies, what potential therapies are expected to disrupt the cell and gene therapies in the rare disorders market?

Epidemiology insights

• What is the historical cell and gene therapies in rare disorders patient pool in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?
• What would be the forecasted patient pool of cell and gene therapies in rare disorders in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?
• What will be the growth opportunities in the 7MM with respect to the patient population pertaining to cell and gene therapies in rare disorders?
• Out of all the 7MM countries, which country would have the highest prevalent population of cell and gene therapies in rare disorders during the study period (2019-2032)?
• At what CAGR is the population expected to grow in the 7MM during the study period (2019-2032)?
• What are the various recent and upcoming events expected to improve the uptake of cell and gene therapies in rare disorders?

Current treatment scenario, marketed drugs, and emerging therapies

• How many companies are developing cell and gene therapies for rare disorders?
• How many Cell and Gene Therapies in Rare Disorders are developed by each company?
• How many emerging therapies are in mid-and late-stage of development?
• What are the key collaborations (Industry-Industry, Industry-Academia), mergers and acquisitions, and licensing activities related to cell and gene therapies in rare disorders?
• What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitation of existing therapies?
• What are the clinical studies for cell and gene therapies in rare disorders and their status?
• What key designations have been granted for the emerging therapies for cell and gene therapies in rare disorders?
• What is the global historical and forecasted market of cell and gene therapies in rare disorders?

Reasons to Buy

• The report will help develop business strategies by understanding trends shaping and driving the cell and gene therapies in the rare disorders market.
• To understand the future market competition in the cell and gene therapies in rare disorders market and an Insightful review of the key market drivers and barriers.
• Organize sales and marketing efforts by identifying the best opportunities for cell and gene therapies in rare disorders in the US, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.
• Identifying strong upcoming players in market will help in devising strategies to help get ahead of competitors.
• Organize sales and marketing efforts by identifying the best opportunities for cell and gene therapies in the rare disorders market.
• To understand the future market competition in the cell and gene therapies in rare disorders market.