In-Depth Market Analysis of Rare Genetic Disorders: Familial Chylomicronemia Syndrome (FCS), Netherton Syndrome, and Acromegaly | Key Insights by DelveInsight

Globally, an estimated 350 million people grapple with rare disorders, defined as conditions with fewer than 200,000 diagnosed cases. Among these rare conditions, approximately 80 percent have a genetic foundation, and an astonishing 95% lack any treatments endorsed by the FDA.

LAS VEGAS, Dec. 18, 2023 /PRNewswire/ -- Significant breakthroughs in the rapid and cost-effective analysis of the human genome have brought clarity to the path of discovering the underlying causes of rare disorders. Families who've endured years of what can only be described as diagnostic odysseys are now finding a glimmer of hope. They've transitioned from one specialist to another on their quest to unveil the enigma of their loved one's uncommon ailment. Genomic testing has emerged as a source of relief for these individuals and their families, while also building connections among families dealing with similar issues, enabling them to exchange their stories and challenges.

DelveInsight has recently released a series of epidemiology-based market reports focusing on rare genetic disorders including Familial Chylomicronemia Syndrome (FCS), Netherton Syndrome, and Acromegaly. 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.

Familial Chylomicronemia Syndrome (FCS) Market

Familial chylomicronemia syndrome (FCS) is a rare genetic lipid disorder characterized by elevated triglyceride (TG) levels due to mutations in the LPL gene. In addition to LPL, pathogenic variants in five other genes—APOA5, APOC2, GPD1, GPIHPB1, and LMF1—can also lead to FCS. This condition is a severe disorder that hinders the body's ability to metabolize dietary fats and triglycerides. These triglycerides are transported in the bloodstream by large structures called chylomicrons, facilitating their distribution to various body tissues for energy and fat storage. DelveInsight estimated that the total diagnosed prevalent familial chylomicronemia syndrome in the 7MM comprised approximately 2K cases in 2022 and are projected to increase by 2032.

While there is no cure for familial chylomicronemia syndrome, it can be effectively managed through a collaborative approach involving healthcare professionals such as endocrinologists or lipid specialists, dietitians, patient support groups, and primary care providers. The mainstay of FCS management centers around dietary adjustments.

Currently, familial chylomicronemia syndrome lacks FDA-approved treatment options in the United States, and Japan also lacks approved therapies for the condition. However, it's worth noting that WAYLIVRA (Volanesorsen) received marketing authorization from the EMA in the EU in May 2019. While this drug has obtained Orphan Drug Designation (ODD) from both the US FDA and EMA, it has not secured approval in the United States. The introduction of new therapies on the horizon is anticipated to have a positive impact on the market. As per DelveInsight analysis, the total familial chylomicronemia syndrome market size in the 7MM was around USD 15 million in 2022. This is estimated to increase by 2032 at a significant CAGR.

Familial Chylomicronemia Syndrome Pipeline Therapies and Companies 

• Olezarsen: Ionis Pharmaceuticals
• ARO-APOC3: Arrowhead Pharmaceuticals, Inc.

For a comprehensive view of the FCS market, check out the Familial Chylomicronemia Syndrome Market Assessment

Netherton Syndrome Market

Netherton syndrome, also referred to as Comèl-Netherton syndrome, is an exceptionally rare and severe autosomal recessive genetic disorder falling under the ichthyosis category. This hereditary skin condition typically manifests at birth or within the initial weeks of life, presenting as intensely red skin covered with fine, dry scales. While Netherton syndrome persists throughout one's lifetime, its intensity can vary from one individual to another. This syndrome is characterized by a clinical triad consisting of Ichthyosis Linearis Circumflexa (ILC), trichorrhexis invaginata, commonly known as bamboo hair, atopic symptoms, and a range of multisystemic complications. As per the assessment done by DelveInsight, In 2022, the total Netherton syndrome diagnosed prevalence cases were estimated to be approximately 3.4K cases in the 7MM. These cases are projected to increase during the forecast period. In 2022, among the 7MM, the US accounted for the highest diagnosed prevalent cases of Netherton syndrome, contributing nearly 49%, while Japan accounted for the least with nearly 4% of the total diagnosed prevalent cases.

The approach to managing Netherton syndrome involves a multidisciplinary effort aimed at symptom relief rather than addressing the underlying cause. Unfortunately, there is currently no approved therapy specifically for Netherton syndrome. Symptomatic treatments include the use of emollients, keratolytic agents, and moisturizers to hydrate the skin. Topical corticosteroids are employed to reduce inflammation, itching, and redness, while topical vitamin D (calcipotriol) is used to combat excessive scaling and inflammation. Additionally, calcineurin inhibitors such as pimecrolimus and tacrolimus are utilized to modulate the immune response and decrease inflammation. 

In addition to these retinoids, healthcare professionals may also prescribe immunosuppressants in both topical and systemic forms. Furthermore, other anti-inflammatory agents are commonly employed in treatment. Off-label use of biologics is observed, but their effectiveness remains uncertain. It's important to note that prolonged usage of most of these treatments carries safety risks, including potential complications such as skin atrophy, irritation, and recurrent infections. Besides these pharmacological therapies, patients are encouraged to include daily showers involving a non-detergent liquid cleansing oil with an acidic pH to counteract the effects of overactive serine proteases, especially during acute flares. Additionally, bleach baths with sodium hypochlorite diluted in water, as well as the utilization of narrowband UVB (NB-UVB) phototherapy and psoralen-UVA (PUVA) photochemotherapy, are recommended.

As per DelveInsight, the total Netherton syndrome market size in the 7MM was approximately USD 25 million in 2022 and is projected to increase during the forecast period (2023–2032). This is mainly due to the launch of upcoming therapies and the increasing cases of the Netherton syndrome.

Netherton Syndrome Pipeline Therapies and Companies 

• QRX003: Quoin Pharmaceuticals
• SPEVIGO (spesolimab/BI 655130): Boehringer Ingelheim
• LM-030 (BPR277): LifeMax Laboratories/Novartis
• SXR1096: Sixera Pharma
• DS-2325: Daiichi Sankyo

To gain a deeper understanding of the Netherton syndrome market, be sure to explore the Netherton Syndrome Market Outlook

Acromegaly Market

Acromegaly is a rare condition that develops slowly in adults. It arises when the pituitary gland overproduces growth hormone (GH). Located near the base of the skull, the pituitary gland stores and releases various hormones to regulate bodily functions. In most cases, acromegaly results from a noncancerous pituitary tumor known as an adenoma. Symptoms include unusual growth and enlargement of the hands, arms, feet, legs, and head bones. The jaw and front of the skull often show the most noticeable bony changes. As per the assessment done by DelveInsight, the total diagnosed prevalent cases of acromegaly in the 7MM were ~58K cases in 2022, which are anticipated to increase by 2032.

The current approaches for managing acromegaly comprise surgical intervention, pharmaceutical treatments, and radiation therapy. These treatments aim to achieve multiple goals, including controlling tumor size, normalizing GH and IGF-I levels, alleviating symptoms, and addressing associated health issues. There are three primary categories of medications employed in acromegaly treatment: Somatostatin analogs, dopamine agonists, and growth hormone-receptor antagonists. It's important to note that while these medications can effectively manage the condition, they do not offer a cure. Additionally, physicians may prescribe a combination of these drugs. When surgery is infeasible or fails to completely remove the tumor, and medications are not a viable option, radiation therapy, including both stereotactic and conventional methods, may be recommended. This form of treatment employs high-energy X-rays or particle waves to target and eliminate tumor cells.

As per DelveInsight, the total acromegaly market size in the US was approximately USD 700 million in 2022 and is projected to increase during the forecast period (2023–2032). The rising awareness about acromegaly and an increase in the rates of screening are among the prime drivers of the acromegaly treatment market. Advancements in medications, which include the development of antagonists, such as somatostatin analogs, dopamine agonists, and GH receptor antagonists, which are the synthetic forms of natural hormones that restrict the production of GH, are driving the acromegaly treatment market. Overall, the launch of upcoming novel therapies and increasing awareness will fuel the acromegaly market during the forecast period, 2023–2032.

Acromegaly Pipeline Therapies and Companies 

• Paltusotine (CRN 00808): Crinetics Pharmaceuticals
• CAM2029 (octreotide subcutaneous depot): Camurus AB

To access a complete analysis of the acromegaly market, visit Acromegaly 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