Navigating the Complex Market Landscape of Rare Genetic Disorders: A Deep Dive into Hereditary Angioedema, Wilson Disease, Menkes Disease, and Alpha-1 Antitrypsin Deficiency (AATD) | DelveInsight

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Nov 09, 2023, 17:01 ET

Approximately 350 million individuals worldwide grapple with rare disorders, which are defined as conditions affecting fewer than 200,000 diagnosed cases. Of these rare disorders, roughly 80 percent have a genetic basis, and a staggering 95 percent lack any FDA-approved treatment

LAS VEGAS, Nov. 9, 2023 /PRNewswire/ -- The breakthroughs achieved in the rapid and cost-effective analysis of the human genome have illuminated the path towards uncovering the underlying causes of rare disorders. Families, who have endured years of what can only be described as diagnostic odysseys, have now found hope. They have transitioned from one specialist to another in their quest to unravel the mysteries of their loved one's rare ailment. Genomic testing has emerged as a beacon of relief for these individuals and their families, while also fostering connections among similarly affected families, allowing them to share their journeys and challenges.

DelveInsight has recently released a series of epidemiology-based market reports focusing on rare genetic disorders including Hereditary Angioedema, Wilson Disease, Menkes Disease, and Alpha-1 Antitrypsin Deficiency (AA1TD). These reports include a comprehensive understanding of current treatment practices, historical and forecasted patient pool, emerging drugs, market share of individual therapies, and historical 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 exhaustive analyses of prominent companies working with their emerging candidates in different stages of clinical development. Let's deep dive into the assessment of these rare genetic disorder markets individually.

Hereditary Angioedema Market

Hereditary angioedema (HAE) represents a rare autosomal dominant inherited disorder, with a 50% likelihood of transmission to offspring when one parent is affected. However, 25% of cases stem from spontaneous mutations. Recent discoveries, including defects in the SERPING1 gene and several newly identified genes, have greatly expanded our comprehension of HAE's pathophysiology. As per the DelveInsight's assessment, the total diagnosed prevalent cases of hereditary angioedema in the 7MM in 2021 was ~14K, which is expected to increase by 2032, at a considerable CAGR. The diagnosed prevalent cases of HAE in the 7MM varied according to gender, with prevalent cases higher in females than males. Assessments, as per DelveInsight's analysts, show that the overall diagnosed prevalent cases of HAE in females was 8K, while it was 5K in males in 2021, these cases are subject to rise in the coming years.

Although there is no cure for HAE, numerous approaches can help prevent or alleviate swelling attacks. Specific medications tailored to HAE are available, such as attenuated androgens. However, factors like regional availability, regulatory approvals, and costs might limit access to some of these drugs. Additionally, there are less established therapies, such as antifibrinolytics and fresh frozen plasma, that may play a role. The HAE treatment market generally employs two common strategies: on-demand therapies, which aim to minimize angioedema symptoms and provide quick relief, and long-term prophylaxis to reduce the overall disease burden. Short-term or periprocedural prophylaxis treatments are taken before engaging in activities known to trigger attacks.

The current pipeline of hereditary angioedema consists of great deal of drugs for both prophylaxis and treatment, such as Garadacimab, Donidalorsen, KVD900, NTLA2002, and others targeting wide range of mechanism. Ongoing research and current trials have the potential to change the hereditary angioedema market. As per DelveInsight analysis, the total hereditary angioedema market size in the 7MM was USD 2.1 billion in 2021. The hereditary angioedema market is expected to increase by 2032 at a decent CAGR.

Hereditary Angioedema Pipeline Therapies and Companies

Sebetralstat (KVD900): KalVista Pharmaceuticals
NTLA-2002: Intellia Therapeutics
BMN 331: BioMarin Pharmaceutical
Garadacimab (CSL312): CSL Behring
Donidalorsen (IONIS-PKK-LRx): Ionis Pharmaceuticals, Inc.
STAR-0215: Astria Therapeutics, Inc.
PHA-121: Pharvaris Netherlands B.V.

For a comprehensive view of the hereditary angioedema market, check out the Hereditary Angioedema Market Assessment

Wilson Disease Market

Wilson's disease is an inherited condition characterized by the accumulation of excess copper in various organs, including the liver, brain, eyes, and other vital body parts. If left untreated, elevated copper levels can lead to severe organ damage. The condition is caused by genetic mutations in the ATP7B gene, which plays a crucial role in transporting copper from intracellular chaperone proteins. This copper transport is essential for both its excretion into bile and its incorporation into apo-ceruloplasmin to create functional ceruloplasmin. In 2022, the prevalent population of Wilson's disease in the United States was found to be around 9K cases out of which nearly 2.5K cases were diagnosed, as per DelveInsight's estimates, the cases is expected to increase by 2032.

Wilson's disease can be treated with a range of drugs, such as D-penicillamine, trientine, zinc supplements, tetrathiomolybdate, and dimercaprol. After diagnosis, ongoing treatment is essential. The treatment protocol usually consists of three types of medications: chelators like penicillamine and trientine dihydrochloride that promote copper excretion through urine, zinc salts to block copper absorption from the diet, and tetrathiomolybdate, which not only inhibits copper absorption but also neutralizes toxic copper in the bloodstream.

As per DelveInsight analysis, the overall market size of Wilson's disease was around USD 290 million in 2022. DelveInsight's analysts estimate that the Wilson's disease market will show positive growth by the end of 2032. The disease awareness and emergence of new products in the pipeline will add to the Wilson's disease market growth in the future. In addition, persistently rising cases of Wilson's disease in the forecast period will contribute to the rise in the Wilson's disease treatment market.

Wilson Disease Pipeline Therapies and Companies

VTX-801: Vivet Therapeutics/Pfizer
UX701: Ultragenyx

Discover more about Wilson disease drugs in development @ Wilson Disease Clinical Trials

Menkes Disease Market

Menkes disease is a fatal infantile neurodegenerative disorder characterized by X-linked inheritance. This genetic condition is caused by mutations in the ATP7A gene, which plays a crucial role in copper transport throughout the body. Mutations in this gene can lead to premature birth and manifest as non-specific symptoms such as hypothermia, hypoglycemia, and prolonged jaundice. These vague clinical and biochemical findings can sometimes result in the misdiagnosis of neonatal Menkes disease. As per the assessment of DelveInsight, total diagnosed prevalent cases of Menkes disease in the 7MM were found to be 156 in 2021, which are expected to increase at a CAGR of 7.60% during study period.

Menkes disease lacks a specific curative remedy and is a progressive multisystem disorder. The effectiveness of treatment is contingent on the extent of ATP7A gene deletion and the remaining functional ATP7A protein. The primary treatment objective is to supply copper to copper-dependent enzymes. Commencing treatment at the earliest possible juncture is crucial. Presently, neonatal Menkes patients can be treated with copper-histidine (within 30 days of birth), especially if they are asymptomatic and have received a molecular or biochemical diagnosis. However, Menkes disease often goes undiagnosed during its early stages. Nevertheless, it should be noted that early copper-histidine therapy may not always normalize the neurological outcomes in all patients. The varying responses to early treatment could be attributed to the differing levels of residual Menkes disease ATPase activity in each patient or the effectiveness of copper-histidine therapy.

The current pipeline of Menkes disease consists few products, which are in initial phase of clinical development. The absence of approved therapy for Menkes disease is severe unmet need. Consequently, it necessitated the development of new entities. As some molecule probably will enter in market in upcoming years for Menkes disease, the market is supposed to experience immense growth in future. As per DelveInsight analysis, the current Menkes disease market size was 0.2 million in 2021 and it is anticipated to grow by 2032 owing to the rising prevalence cases and the expected launch of emerging therapies.

Menkes Disease Pipeline Therapies and Companies

CUTX-101: Cyprium Therapeutics and Sentynl Therapeutics

To gain a deeper understanding of the Menkes disease market, be sure to explore the Menkes Disease Market Outlook

Alpha-1 Antitrypsin Deficiency (AATD) Market

Alpha-1 antitrypsin deficiency (AATD) is an rare hereditary metabolic disorder resulting from low levels of the alpha-1 antitrypsin (A1AT) protein in the bloodstream. This condition can lead to COPD, with emphysema-like symptoms being a common manifestation. In addition, some adults with AATD may experience liver damage in the form of cirrhosis, which results from the development of scar tissue in the liver. According to DelveInsight's analysts, in 2022, the total prevalent cases of AATD in the 7MM were estimated to be nearly 194K, of which the United States observed highest number of cases. The EU4 and the UK countries accounted for more than 77K prevalent cases.

The available treatments for individuals with AATD are akin to those used for patients suffering from non-AATD-related COPD. These treatments primarily focus on symptom management and include bronchodilators, inhaled steroids, pulmonary rehabilitation, potential lung volume reduction therapies, and, in severe cases, lung transplantation. The sole globally authorized treatment specific to AATD is augmentation therapy. However, historically, AATD treatment has primarily centered on the lungs, aiming to postpone the onset of emphysema, decrease the occurrence of pulmonary exacerbations, and enhance the patient's quality of life (QOL). Notably, there is currently no approved treatment for AATD-associated liver disease and Panniculitis.

The current pipeline of AATD consists of great deal of drugs. ARO-AAT, Alvelestat, and others are among the most highlighted drugs of this indication. Ongoing research and current trials have the potential to change the AATD market. As per DelveInsight analysis, the United States accounted for the largest AATD market size compared to the EU4 (Germany, Italy, France, and Spain) and the UK, and Japan in 2022. ARO-AAT, expected to launch during the forecast period (2023–2032), is anticipated to capture a significant market space amongst all the emerging drug candidates and shall account for a high AATD market revenue in the coming years.

Alpha-1 Antitrypsin Deficiency Pipeline Therapies and Companies

ARO-AAT (Fazirsiran): Arrow Head Pharmaceuticals
Alvelestat (MPH-966): Mereo Biopharma
Inhaled AAT: Kamada Ltd
Belcesiran (DCR-A1AT): Dicerna Pharmaceuticals
INBRX-101: Inhibrx, Inc./CHIESI Farmaceutici S.p.A.

To access a complete analysis of the AA1TD market, visit Alpha-1 Antitrypsin Deficiency Market Assessment

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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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SOURCE DelveInsight Business Research, LLP