The Evolving Market Dynamics of Rare Diseases: WHIM Syndrome, Adrenal Crisis, Molybdenum Cofactor Deficiency Type-A (MoCoD-A), and Necrotizing Enterocolitis | Key Analysis by DelveInsight

Rare diseases affect a larger population than cancer and AIDS combined, with over 7,000 distinct conditions impacting more than 300 million globally. Approximately 1 in 10 individuals are affected by a rare disease, and it often requires several years to receive an accurate diagnosis, averaging around 4.8 years. Approximately 95% of rare diseases lack an FDA-approved treatment. 

LAS VEGAS, Oct. 17, 2023 /PRNewswire/ -- Rare conditions carry a significant financial weight, which can be alleviated by the availability of treatments. On a per-patient per year (PPPY) basis, the economic impact of rare diseases is roughly 10 times greater than that of common diseases. A lack of treatment for these conditions correlates with a 21.2% rise in total costs PPPY. Several leading pharma and biotech companies are conducting various research and development to develop novel therapies to cater to the needs of patients. Providing these therapies for individuals facing rare conditions yields substantial societal benefits.

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 WHIM Syndrome, Adrenal Crisis, MoCoD-A, and Necrotizing Enterocolitis. 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.

WHIM Syndrome Market

WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome, an exceptionally rare primary immunodeficiency disorder, poses significant diagnostic challenges. The overwhelming majority of WHIM syndrome cases stem from "gain-of-function" mutations in the CXCR4 receptor gene. As per DelveInsight analysis, there were ~170 diagnosed prevalent cases of WHIM syndrome estimated to have occurred in the 7MM in 2022 of which ~110 of the accounted cases were estimated to be from the US alone and these cases are anticipated to increase during the forecasted period. 

There are two primary approaches to managing WHIM syndrome: curative and symptomatic treatments. Hematopoietic stem cell transplantation (allogenic) stands as the sole curative option, while symptomatic management includes the use of exogenous immunoglobulins (IV/subcutaneous), G-CSF, and CXCR4 antagonists.

DelveInsight's analysts estimate that the WHIM syndrome market is expected to show positive growth and will grow from ~USD 6 million in 2022 at a significant CAGR of about 16.3% by 2032. This rise in the WHIM syndrome market is mainly attributed to increased prevalence and the anticipated launch of novel therapies during the forecast period (2023–2032).

WHIM Syndrome Pipeline Therapies and Companies 

• Mavorixafor: X4 Pharmaceuticals
• Plerixafor: National Institute of Allergy and Infectious Diseases (NIAID)

Dive deeper for rich insights into the WHIM Syndrome Clinical Trials

Adrenal Crisis Market

Adrenal crisis, referred to as Addisonian crisis or acute adrenal insufficiency, is a critical medical situation resulting from insufficient cortisol levels in the body. Individuals facing this emergency may encounter symptoms such as dizziness, weakness, profuse sweating, abdominal discomfort, queasiness, vomiting, or, in severe cases, a loss of consciousness. Patients experiencing an adrenal crisis typically appear profoundly unwell, manifesting a range of non-specific indications and symptoms, which can sometimes lead to diagnostic confusion and a delay in administering appropriate treatment. As per the assessment done by DelveInsight, the total number of prevalent cases of adrenal crisis in 7MM countries was 130K in 2021.

The recommended course of action for adrenal crisis involves administering immediate hormone replacement drugs, such as hydrocortisone. An initial bolus of 100 mg can be administered intravenously (IV) or intramuscularly (IM), followed by a 200 mg infusion over 24 hours or 50 mg IV/IM every 6 hours. Additionally, it is essential to provide a 5% dextrose-containing solution for hypoglycemia, IV sodium chloride 0.9% for hypovolemia, and consider antibiotics if there are persistent signs of infection. The primary objective of these medications is to restore normal cortisol levels and stabilize the patient.

The adrenal crisis market is expected to surge from ~USD 12 million in 2021 at a significant CAGR by 2032 owing to the increasing cases of adrenal insufficiency patients and entry of therapies in the market in the 7MM.

Adrenal Crisis Pipeline Therapies and Companies 

• ATRS-1902: Antares Pharma
• Zeneo: Eton Pharmaceuticals

For a deeper understanding of the adrenal crisis market landscape, explore the Adrenal Crisis Market Outlook

Molybdenum Cofactor Deficiency Type-A (MoCoD-A) Market

Molybdenum cofactor deficiency is a severe autosomal recessive inborn error of metabolism characterized by the neonatal presentation of intractable seizures, feeding difficulties, developmental delays, microcephaly with brain atrophy, and coarse facial features. As per the assessment of DelveInsight, the total prevalent population of MoCoD in the 7MM was found to be 242 in 2021, which are expected to increase by 2032. 

Affected individuals often follow a cysteine-restricted diet, which involves limiting their protein intake and avoiding natural protein sources. In cases of MOCS1-related MoCoD, some may receive daily infusions of cyclic pyranopterin monophosphate (cPMP) through an indwelling catheter, with the dosage determined by their weight and age. It is crucial to initiate treatment as early as possible to minimize disease severity since brain damage is irreversible. Until recently, the primary approach was to provide supportive care and manage complications. However, in 2021, the FDA approved fosdenopterin as the first drug treatment for MoCoD type-A, which serves as a substrate replacement therapy by supplying an external source of cPMP. Lifelong therapy is advised.

The therapies for MoCoD are limited, offering key pharma companies opportunities to capture the market by scaling up R&D activities and production of novel treatments. As per DelveInsight analysis, the MoCoD type-A market size was found to be USD 2.42 million in 2021 in the 7MM. Currently, there is no pharmaceutical company working on the development of therapy for patients affected with MoCoD type-A despite being an ultra-rare genetic disorder. However, various support programs exist to develop products for rare diseases like Rare Pediatric Disease Priority Review Voucher, Orphan Designation, etc. Still, the pipeline for MoCoD type-A is empty, with no new drug being developed.

Discover which company will get the first-mover advantage in MoCoD treatment landscape @ MoCoD Type-A Market Analysis

Necrotizing Enterocolitis Market

Necrotizing enterocolitis is a highly destructive condition that targets the intestines of newborns. It primarily afflicts premature infants born before 37 weeks of gestation, leading to intense inflammation in either the small or large intestines, sometimes resulting in tissue necrosis. Infants born prematurely or with low birth weight face an elevated risk of developing necrotizing enterocolitis. As per DelveInsight's assessment, the total incident cases of preterm infants by birth weight in the 7MM were approximately 94K in 2022. These incident cases are estimated to increase by 2032.

While there are no pharmaceutical treatments approved specifically for necrotizing enterocolitis, researchers have shifted their focus towards preventive strategies due to the lack of effective therapeutic options. These strategies include early exposure to colostrum and mother's milk, meticulous nutritional planning, probiotics, environmental safeguards, skin-to-skin care, and pharmacological interventions. It's important to note that dietary supplements containing live bacteria are considered effective in necrotizing enterocolitis prevention; however, they do not undergo FDA premarket review for safety and efficacy or adhere to the manufacturing and testing standards mandated for FDA-regulated drug products.

The dynamics of the necrotizing enterocolitis market are expected to change in the coming years. As per DelveInsight analysis, the total necrotizing enterocolitis market size in the 7MM was estimated at USD 15 million in 2022,  which is expected to show positive growth and will reach approximately USD 680 million by 2032. This is mainly due to the improvement in the usage of probiotics for the prevention of necrotizing enterocolitis, incremental healthcare expenditure across the world, and the expected launch of emerging therapy during the forecast period (2023─2032). Only a few companies all over the globe are persistently working toward the development of new treatment therapies.

Necrotizing Enterocolitis Pipeline Therapies and Companies 

• IBP-9414: Infant Bacterial Therapeutics
• STMC-106: Siolta Therapeutics
• ST266: Noveome Biotherapeutics

To delve into the necrotizing enterocolitis market landscape in more detail, access the Necrotizing Enterocolitis Market Report

Conclusion

Rare diseases present a unique set of challenges for patients, caregivers, and healthcare systems alike. The foremost challenge is the scarcity of knowledge and expertise, often leading to delayed or misdiagnoses due to the lack of awareness among healthcare professionals. Additionally, limited research and funding hinder the development of effective treatments, leaving many individuals with rare diseases without viable therapeutic options. Moreover, several therapies for rare diseases fail in various trials, and as a result the overall revenue of the rare diseases also gets hampered.

Developing therapies for rare diseases can be exceptionally costly due to the limited patient population available for clinical trials. The high costs of research, development, and obtaining regulatory approvals often result in higher drug prices. The high cost of specialized care, medications, and treatments can impose a significant financial burden on patients and their families, exacerbating their already difficult situation. Social isolation and psychological distress are also prevalent challenges, as patients may struggle to find support networks due to the rarity of their conditions. Overall, addressing the challenges associated with rare diseases requires increased awareness, research funding, and a collaborative effort among healthcare providers, researchers, and policymakers.

Furthermore, to incentivize the development of treatments for rare diseases, many countries, including the United States and the European Union, have established orphan drug designation programs. These programs grant certain benefits to drug developers, such as extended market exclusivity and tax incentives, to encourage investment in rare disease treatments.

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Rare Disease Consulting Services

Delveinsight's comprehensive rare disease consulting services encompass rare disease consulting, epidemiology-based market assessment, and primary research projects aimed at obtaining elusive data through their esteemed KOL panel. 

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. Get hassle-free access to all the healthcare and pharma market research reports through our subscription-based platform PharmDelve.

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