Rare diseases impact a larger segment of the population than cancer and AIDS combined, encompassing over 7,000 unique conditions and affecting more than 300 million people worldwide. Roughly 1 in 10 individuals experience the challenges of rare diseases, and the journey to an accurate diagnosis typically takes several years, averaging around 4.8 years. Astonishingly, nearly 95% of rare diseases lack an FDA-approved treatment.

Rare disorders are accompanied by a significant financial burden, but this can be mitigated through the availability of treatments. When assessed on a per-patient per year (PPPY) basis, the economic impact of rare diseases is roughly 10 times higher than that of common diseases. The absence of treatment options for these conditions is associated with a 21.2% increase in total PPPY costs. Several leading pharmaceutical and biotechnology firms are actively engaged in various research and development initiatives aimed at creating innovative therapies to address the unique needs of patients with rare conditions. Providing these therapies to individuals facing rare conditions brings about substantial societal advantages.

DelveInsight has expertise in the rare disease market with an experienced team handling the rare disease domain proficiently. DelveInsight has recently released a series of epidemiology-based market reports on rare diseases including Homozygous Familial Hypercholesterolemia, Heparin-induced Thrombocytopenia, Post-Bariatric Hypoglycemia, IgG4-related Disease, and ANCA-associated Vasculitis. These reports include a comprehensive understanding of current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted market size from 2019 to 2032 segmented into 7MM [the United States, the EU-4 (Italy, Spain, France, and Germany), the United Kingdom, and Japan].

Additionally, the reports feature an examination of prominent companies working with their lead candidates in different stages of clinical development. Let’s deep dive into the assessment of these rare disease markets individually.

 

Homozygous Familial Hypercholesterolemia (HoFH) Market

Homozygous familial hypercholesterolemia, an exceedingly rare and severe variant of familial hypercholesterolemia, results from a genetic anomaly impacting lipid metabolism, resulting in exceptionally elevated LDL-C levels in the bloodstream. This genetic disorder follows an autosomal recessive inheritance pattern and is brought about by a mutation that impairs the normal function of LDL receptors responsible for clearing LDL cholesterol from the blood. As per DelveInsight analysis, in 2022, the total diagnosed homozygous familial hypercholesterolemia prevalent cases were estimated to be approximately 2.8K cases in the 7MM. These cases are projected to increase by 2032.

Homozygous familial hypercholesterolemia presents a complex challenge due to the substantial elevation of LDL cholesterol levels and the heightened risk of early-onset cardiovascular complications. The standard approach to managing this condition combines pharmaceutical interventions, lifestyle adjustments, and, in some instances, advanced medical procedures. Statins stand as the primary class of drugs employed for treating homozygous familial hypercholesterolemia, aiming to reduce LDL cholesterol levels in the bloodstream. Several statins have received approval in the United States, including LIPITOR (atorvastatin), CRESTOR (rosuvastatin), and ZOCOR (simvastatin), which now have generic versions available. In 2023, the FDA approved ATORVALIQ (atorvastatin), an oral suspension of the already established atorvastatin medication.

As per DelveInsight, the total homozygous familial hypercholesterolemia market size in the 7MM was approximately USD 108 million in 2022 and is projected to increase during the forecast period (2023–2032). This is mainly due to the growth of current therapies, the launch of upcoming therapies, and the increasing cases of the HoFH.

 

Homozygous Familial Hypercholesterolemia Pipeline Therapies and Companies

  • ARO-ANG3: Arrowhead Pharmaceuticals
  • LEQVIO (inclisiran/KJX839): Novartis/Alnylam Pharmaceuticals
  • Lerodalcibep (LIB003): LIB Therapeutics

 

Heparin-induced Thrombocytopenia Market

Heparin-induced thrombocytopenia (HIT) is an intriguing and intricate immunological syndrome that remains partially enigmatic. This severe complication may manifest in individuals exposed to heparin products of any type or dosage. While heparin is a widely used medication for clot prevention, the immune system can paradoxically induce blood clot formation and thrombocytopenia, ultimately resulting in HIT. DelveInsight estimated that in 2022, there was a total of ~111K incident cases of heparin-induced thrombocytopenia, which is expected to increase by 2032 in the United States.

Common treatment options include the use of direct parenteral thrombin inhibitors such as argatroban, Desirudin, or bivalirudin, as well as indirect parenteral Factor Xa inhibitors like danaparoid or fondaparinux. In recent times, direct oral anticoagulants (DOACs) have emerged as a viable alternative for managing acute HIT or HIT with thrombosis. It is crucial to prevent further blood clot formation; hence, patients are typically switched to an alternative anticoagulant, even if heparin was initially administered for prophylaxis.

A scarcity of approved HIT therapies persists, with no new options entering the market for more than two decades. The rising awareness of HIT, driven by patients actively seeking appropriate treatments, is set to fuel heparin-induced thrombocytopenia market growth. As per DelveInsight analysis, the total heparin-induced thrombocytopenia market size in the 7MM was approximately USD 125 million in 2022 and is projected to increase during the forecast period (2023–2032). Encouragingly, upcoming therapies in development, such as VLX-1005, foreshadow a positive shift in the overall heparin-induced thrombocytopenia market.

 

Heparin-induced Thrombocytopenia Pipeline Therapies and Companies

  • VLX-1005: Veralox Therapeutics

 

Post-Bariatric Hypoglycemia Market

Hypoglycemia following bariatric procedures like gastric bypass or sleeve gastrectomy is commonly referred to as postbariatric hypoglycemia. This condition usually emerges a few years post-surgery and can be attributed to various risk factors, including rapid weight loss, changes in gastrointestinal structure, heightened insulin sensitivity, hyperinsulinemia, and reactive hypoglycemia. As per the assessment done by DelveInsight, in 2022, the total postbariatric hypoglycemia cases in the 7MM were ~104K, projected to increase during the forecast period (2023–2032).

Traditional treatment approaches, like medical nutrition therapy, acarbose, diazoxide, and octreotide, yielded unsatisfactory results, mainly due to poor tolerance. Management strategies involve dietary adjustments, including the consumption of smaller, more frequent meals, the avoidance of high-glycemic index foods, and the restriction of simple sugars. Medications like acarbose, diazoxide, or glucagon-like peptide-1 (GLP-1) receptor agonists may be prescribed to help regulate blood sugar levels. In severe cases, surgical interventions, such as partial or complete reversal of bariatric surgery, may be considered. Additionally, nifedipine and verapamil were used in conjunction with dietary modifications, leading to the resolution of symptomatic hypoglycemic episodes. For patients who do not respond to conventional treatments, these agents can be considered as therapeutic alternatives. Surgery is the last resort for severe cases of post-bariatric hypoglycemia, as there is no established treatment protocol based on the severity of the condition. Furthermore, surgeries like pancreatectomy are discouraged due to their high morbidity and relapse rates.

Advances in disease mechanisms have yielded new diagnostic and therapeutic approaches, opening the way to more drug development. The market is expected to show positive growth, mainly attributed to the increasing cases and also, the launch of upcoming therapies during the forecast period. As per DelveInsight analysis, the total postbariatric hypoglycemia market size in the 7MM was approximately USD 160 million in 2022 and is projected to increase during the forecast period (2023–2032).

Post-Bariatric Hypoglycemia Pipeline Therapies and Companies

  • Mizagliflozin: Vogenx
  • AVEXITIDE (exendin 9-39): Eiger BioPharmaceuticals

 

IgG4-related Disease Market

IgG4-related disease is a chronic autoimmune disorder characterized by the extensive infiltration of IgG4-positive plasma cells in affected tissues. This condition may or may not be associated with elevated IgG4 levels in the bloodstream. It can affect various organs throughout the body, with the salivary glands, pancreas, and bile ducts being common sites of involvement. While these are well-recognized, hepatic involvement remains less firmly established. As per DelveInsight, the total prevalent cases of IgG4-related disease in the 7MM in 2022 were approximately 314K cases, projected to increase during the forecast period (2023–2032).

Treatment for individuals with IgG4-related disease may not always be necessary. In some cases where there are no symptoms, a conservative approach of watchful waiting is appropriate. However, when IgG4-related disease affects essential organs or when symptoms are present, prompt treatment becomes crucial. According to the International Consensus Statement on the Treatment of IgG4-related disease, glucocorticoids are considered the first-line treatment due to their remarkable clinical effectiveness, particularly in cases involving the pancreas and other organs. Additionally, a range of glucocorticoid-sparing medications has been utilized in various anatomical areas to maintain remission. These alternative drugs include azathioprine, mycophenolate mofetil, methotrexate, cyclophosphamide, and bortezomib, with varying degrees of success.

As numerous potential therapies are being investigated to manage IgG4-related disease, it is safe to predict that the treatment space will experience significant reconstitution during the forecast period. As per DelveInsight analysis, in 2022, the US captured the highest IgG4-related disease market share (72%) out of all the 7MM countries.

IgG4-related Disease Pipeline Therapies and Companies

  • ZB012 (obexelimab): Zenas BioPharma
  • UPLIZNA (inebilizumab): Horizon Therapeutics
  • Rilzabrutinib: Sanofi

ANCA-associated Vasculitis Market

ANCA-associated vasculitis is a set of rare autoimmune disorders with the capacity to be life-threatening and a diverse range of clinical manifestations. These conditions trigger inflammation in blood vessels, leading to damage in organs such as the kidneys and lungs. The key entities within this category include granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and microscopic polyangiitis (MPA). DelveInsight estimated that the total diagnosed prevalent cases of ANCA-associated vasculitis in the 7MM comprised approximately 208K cases in 2022 and are projected to increase by 2032.

The initial approach to treating ANCA-associated vasculitis typically involves achieving remission induction, which is commonly accomplished through the use of cyclophosphamide, rituximab, and high-dose steroids. In severe cases with life-threatening complications or significant kidney involvement, plasma exchange may also be employed alongside induction therapy. Subsequently, the maintenance of remission is often managed with methotrexate or azathioprine. The duration of maintenance therapy may vary, but it is typically administered for a period of 18 to 24 months to minimize the risk of relapse. Furthermore, for patients diagnosed with GPA and MPA, rituximab is often recommended as a means to sustain remission.

The ANCA-associated vasculitis market in the US is poised for significant transformation and expansion over the coming years. As per DelveInsight, the total ANCA-associated vasculitis market size in the 7MM is approximately USD 1.2 billion in 2022 and is projected to increase during the forecast period (2023–2032). This transformation will be primarily driven by the increased adoption of TAVNEOS in patients with GPA and MPA, as well as the use of NUCALA in patients with EGPA. Additionally, we are planning to introduce a new product to the US market. TAVNEOS and NUCALA are projected to gain market share, with a notable impact on rituximab and immunotherapy. NUCALA is expected to reach its peak in the US by 2025 before generic alternatives are anticipated to enter the market in 2027.

ANCA-associated Vasculitis Pipeline Therapies and Companies

  • Depemokimab (GSK3511294): GlaxoSmithKline
  • FASENRA (benralizumab): AstraZeneca
  • Vilobelimab (IFX-1): InflaRx

Conclusion

Rare diseases introduce a distinct set of difficulties for patients, caregivers, and healthcare systems alike. The primary challenge revolves around the scarcity of knowledge and expertise, frequently resulting in delayed or incorrect diagnoses due to the lack of awareness among healthcare professionals. Furthermore, the restricted availability of research and funding impedes the progress of effective treatments, leaving numerous individuals with rare diseases without viable therapeutic alternatives. Moreover, a number of therapies for rare diseases do not succeed in clinical trials, thereby impacting the overall economic viability of rare disease management.

The development of treatments for rare diseases is often associated with exceptionally high costs, primarily due to the limited number of patients available for clinical trials. This, in turn, drives up the expenses related to research, development, and the acquisition of regulatory approvals, ultimately leading to increased drug prices. Patients and their families bear the brunt of these elevated costs for specialized care, medications, and treatments, intensifying their already challenging circumstances. Furthermore, the rarity of these conditions can make it exceedingly difficult for patients to establish support networks, resulting in social isolation and psychological distress. Effectively addressing these challenges necessitates heightened awareness, increased research funding, and a collaborative effort involving healthcare providers, researchers, and policymakers.

Additionally, as a means of promoting the development of therapies for rare diseases, multiple countries, including the United States and the European Union, have implemented orphan drug designation programs. These schemes provide specific benefits to pharmaceutical developers, like prolonged market exclusivity and tax incentives, to foster investment in rare disease treatments.

Other Trending Rare Diseases Reports

Multiple Myeloma Market Insights, Epidemiology, and Market Forecast – 2032 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key multiple myeloma companies, including Johnson & Johnson (Janssen), Pfizer, AbbVie and Roche (Genentech), Regeneron Pharmaceuticals, Bristol-Myers Squibb, Celgene, Roche (Genentech), Arcellx, Novartis, Regeneron Pharmaceuticals, BeiGene, CARsgen Therapeutics, Cartesian Therapeutics, C4 Therapeutics, Heidelberg Pharma, Bristol-Myers Squibb, RAPA Therapeutics, AbbVie (TeneoOne), Takeda, among others.

Cell and Gene Therapies in Rare Disorders Market Insights, Epidemiology, and Market Forecast – 2032 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key cell and gene therapies in rare disorders companies, including Roche, Freeline Therapeutics, Spark Therapeutics, Astellas Gene Therapies, Actus Therapeutics, GenSight Biologics, Coave Therapeutics, Johnson & Johnson, MeiraGTx, Applied Genetic Technologies Corporation, GenSight Biologics, Nanoscope Therapeutics, 4D Molecular Therapeutics, Ocugen, jCyte, ReNeuron, REGENXBIO, Amicus Therapeutics, Pfizer, Sarepta Therapeutics, Capricor Therapeutics, Nippon Shinyaku, Brainstorm Cell Therapeutics, CRISPR Therapeutics, Vertex Pharmaceuticals, Editas Medicine, Sangamo Therapeutics, Krystal Biotech, Abeona Therapeutics, Castle Creek Biosciences, Holostem Terapie Avanzate S.r.l., RHEACELL, Ishin Pharma, Anterogen, Ultragenyx Pharmaceutical, among others.

Multiple System Atrophy Market Insights, Epidemiology, and Market Forecast – 2032 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key multiple system atrophy companies, including Theravance Biopharma, Ionis Pharmaceuticals, Inc., Biohaven Pharmaceuticals, Lundbeck A/S, Alterity Therapeutics, Brain Neurotherapy Bio, Inc., Biogen, Corestem, Inc., Asklepios BioPharmaceutical, Inhibikase Therapeutics, RETROTOPE, Modag, AC Immune, Vaxxinity, Neuramedy, ProMIS Neurosciences, FAScinate Therapeutics, Wren Therapeutics, Blade Therapeutics, Stealth BioTherapeutics, among others.

About DelveInsight

DelveInsight is a leading healthcare-focused market research and consulting firm that provides clients with high-quality market intelligence and analysis to support informed business decisions. Rare diseases are DelveInsight’s forte with more than 200 rare disease reports in the repository.

Source: https://www.prnewswire.com/news-releases/a-comprehensive-analysis-of-rare-diseases-market-with-a-focus-on-homozygous-familial-hypercholesterolemia-heparin-induced-thrombocytopenia-post-bariatric-hypoglycemia-igg4-related-disease-and-anca-associated-vasculitis–delve-302005466.html
GMP mRNA
Check out our mRNA service to expedite your vaccine research
About PackGene

PackGene Biotech is a world-leading CRO and CDMO, excelling in AAV vectors, mRNA, plasmid DNA, and lentiviral vector solutions. Our comprehensive offerings span from vector design and construction to AAV, lentivirus, and mRNA services. With a sharp focus on early-stage drug discovery, preclinical development, and cell and gene therapy trials, we deliver cost-effective, dependable, and scalable production solutions. Leveraging our groundbreaking π-alpha 293 AAV high-yield platform, we amplify AAV production by up to 10-fold, yielding up to 1e+17vg per batch to meet diverse commercial and clinical project needs. Moreover, our tailored mRNA and LNP products and services cater to every stage of drug and vaccine development, from research to GMP production, providing a seamless, end-to-end solution.

Related News

Future Of Gamma Delta T Cell Therapies

Gamma delta T cell-based immunotherapies have emerged as a promising frontier in cancer treatment and beyond, building on the success of chimeric antigen receptor T-cell (CAR T cell) therapy and expanding on the potential of the immune system as a therapeutic...

read more

Related Services