LAS VEGAS, Feb. 24, 2021 /PRNewswire/ -- Rare diseases approximately affect 300 million people globally. In the US, a rare disease affects fewer than 200,000 people (Orphan Drug Act), whereas, in the European Union, a rare disease affects fewer than 1 in 2,000 people. However, rare diseases accompany several unique challenges that continue to make it hard to diagnose, manage, and treat.
The epidemiology of rare diseases is a challenging sphere that requires special attention but is inadequately addressed owing to the rarity of the disease, misdiagnosed cases, and dispersed patient pool. Lack of proper clinical trials adds to the stagnation in the launch of upcoming therapies in the forecast period. Furthermore, pharmaceutical companies find themselves hesitant to invest in the rare disease market that is comparatively smaller and does not promise to yield significant revenue. Cost-effectiveness of therapies is another factor along with a lack of information, incorrect diagnosis, lack of expertise in handling rare diseases that are major hurdles in the steady escalation of the Rare disease market size.
DelveInsight has recently published several reports covering rare diseases that affect people globally, but disproportionately. The reports delineate an overview of a particular rare disease, current treatments, and challenges, issues in diagnosing and interpretation, and in the management of the rare diseases.
The reports also lay forward key companies working in the domain, research scenarios, recent happenings, and futuristic trends of the Rare disease market.
Some of the key highlights from the reports on rare diseases are as follows:
Argininosuccinic aciduria Market
Argininosuccinic aciduria (ASA) is one of the urea disorders that are rare. It is an inherited disorder that causes ammonia to accumulate in the blood. It is inherited as an autosomal recessive trait and affects both sexes equally. In 2020, the total Argininosuccinic aciduria incidence was reported to be 397 in the 7MM (the US, EU5 (the UK, Spain, France, Italy, and Germany) and Japan). Further, DelveInsight expects an increase in the number of ASA incident cases.
The treatment of argininosuccinic aciduria is aimed at preventing excessive ammonia from being formed or from removing excessive ammonia during a hyperammonemic episode. Some of the approved therapies in the ASA market are Ravicti (glycerol phenylbutyrate); Ucyclyd Pharma has two therapies namely Buphenyl (sodium phenylbutyrate) and Ammonul (sodium benzoate and sodium phenylacetate).
DelveInsight anticipates a nominal growth with a CAGR of 7.24% of the Argininosuccinic aciduria market size during the forecast period 2021-30 owing to extensive R&D activities by academics and companies, therapies that are already in the market, and increasing ASA incidence. Pharmaceutical companies such as Takeda, ACER Therapeutics, and others are proactively working in the Argininosuccinic aciduria market.
Key Pipeline Argininosuccinic aciduria Therapies
- mRNA-enriched engineered exosomes: Evox Therapeutics Ltd. / Takeda
- ACER-001: Acer Therapeutics
Dive deeper for rich insights into Argininosuccinic aciduria market outlook
Complement 3 glomerulopathy (C3G) Market
Complement 3 glomerulopathy (C3G) is a glomerular disease characterized by predominant C3 complement component (C3) deposits in the glomeruli in the absence of a significant amount of immunoglobulin and without deposition of C1q and C4. The total Complement 3 glomerulopathy diagnosed prevalence in the 7MM in 2020 was reported to be 8,456. Moreover, it is expected to increase in the near future.
At present, there are no approved therapies in the C3G market. The only available options for the treatment are off-label prescription drugs including Immunosuppresants (as monotherapy or in combination with steroids), Corticosteroids, Renin–angiotensin–aldosterone system Inhibitors (RAAS), and other supportive therapies (including calcineurin inhibitors, anti-complement therapies with Eculizumab). These off-label therapies can lead to several side effects which highlights a critical unmet need that needs to be addressed by the emerging pipeline therapies.
However, DelveInsight's analysis projected a steep increase in the C3G market growth with a CAGR 32.8% during the study period of 2018-2030. The launch of pipeline therapies during the forecast period of 2020-2030 is expected to fuel the growth of market size. Further, an increase in the prevalence, awareness of the disease, and entry of biomarkers are anticipated to provide the C3G market a major push.
Key Pipeline Complement 3 glomerulopathy Therapies
Narsoplimab: Omeros Corporation
Dive deeper for rich insights into Complement 3 glomerulopathy market landscape
Dup15q syndrome Market
Dup15q syndrome is a neurogenetic disorder that results from duplications of chromosome 15q11.2-13.1. It is characterized by hypotonia, developmental delay and intellectual disability (ID), epilepsy, and autism spectrum disorder (ASD). Children with 15q11-q13 duplications are at high risk for neurodevelopmental disabilities, particularly autism spectrum disorder (ASD) and intellectual disability (ID). The total Dup15q syndrome prevalent population in the 7MM in 2020 was reported to be 46,250 which shall surpass the figure of 47,500 in next 10 years.
The present Dup15q syndrome treatment market consists of symptomatic therapies to address specific symptoms associated with the condition, such as antiepileptic medications, physical, occupational, and speech therapy, and applied behavioral analysis (ABA) therapy to treat social skills deficits associated with autism spectrum disorders. There is no cure for the condition to date but there is some hope from the pipeline as a treatment from Ovid/Takeda, Soticlestat (OV935/TAK-935) may transform the lives of people with rare neurological diseases and bring some relief from debilitating symptoms in these patients. This is a potent, highly selective, oral, first-in-class inhibitor of the enzyme cholesterol 24-hydroxylase (CH24H). Recently, Phase 2 ELEKTRA Study of Soticlestat met Primary endpoint of reducing seizure frequency in children with Dravet Syndrome or Lennox-Gastaut Syndrome and expectation is very high to replicate the similar success in Dup15q syndrome as well.
The Dup15q syndrome market is expected to grow at a CAGR of 35.6% (2020-2030) owing to the expected launch of Soticlestat (anticipated sales of ~200mn in the US) which will have a major impact on the market. Furthermore, better disease understanding, awareness, support from international organizations, increasing R&D, and the advent of electrophysiological biomarkers to facilitate clinical stratification, treatment monitoring, and measure target engagement for future clinical trials shall give the market size growth pace a much-needed momentum.
Key Dup15q syndrome Pipeline Therapies
TAK-935/ OV935: Ovid Therapeutics/Takeda
Dive deeper for rich insights into Dup15q syndrome market trends and forecast
Fragile X syndrome (FXS) Market
Fragile X syndrome (FXS) or Martin-Bell syndrome is a form of intellectual disability (ID) following an X-linked inheritance pattern. It is a genetic disease that is a result of CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3. As a consequence, it leads to intellectual disability, autism, hyperactivity, long face, large or prominent ears, and macroorchidism at puberty and thereafter. The FXS prevalence in 2020 was reported to be 120,177 in the 7MM, which is subject to increase rapidly in the coming years.
At present, there is no FDA-approved therapy available in the Fragile X syndrome market. The treatment majorly focuses to alleviate associated symptoms with the help of pharmacologic interventions, such as stimulants for attention deficit and hyperactivity, selective serotonin reuptake inhibitors (SSRIs) for anxiety, antipsychotic drugs for aggression and mood instability, and melatonin for sleep.
However, over the past years improvements have been made in decoding the description of genetic characteristics, the function of the protein encoded by the FMR1 gene (FMRP), and pharmacological management. DelveInsight anticipates steep growth of the Fragile X syndrome with a CAGR of 32.6% in the study period 2018–2030. The expected launch of emerging therapies, rising FXS prevalence, better disease knowledge, and effective strides of R&D in the domain shall help FXS market size growth trek forward smoothly.
The current treatment relies on the associated symptoms of the disease which are typically managed using pharmacologic interventions, such as stimulants for attention deficit and hyperactivity, selective serotonin reuptake inhibitors (SSRIs) for anxiety, antipsychotic drugs for aggression and mood instability, and melatonin for sleep. Additionally, antidepressants are preferred as a major option to control anxiety, compulsive/perseverative and mood symptoms. The drugs' compliance rate is quite low as the patients are not compliant with taking the medication.
The pipeline products are led by the lead development candidate Zygel which offers a potential goldmine of therapies for multiple conditions including FXS. The drug is the first, and only patent-protected, synthetic cannabidiol (CBD) formulated as a permeation-enhanced gel for transdermal delivery. The lack of approved and effective therapy provides an edge to zygel, which is no less than a boon for the patients in such a crisis. Based on the data, Zynerba plans to meet with the US FDA for a path forward for Zygel. Zygel is expected to emerge as an effective treatment and mark its entry in the current market. The other drug in competition with Zygel is Acamprosate which is a novel, clinically discovered treatment that acts as an NMDA receptor inhibitor GABA receptor agonist; Glutamaterigic antagonist at mGlur5 receptor. The drug is expected to be launched in the near future due to its promising results of phase II trial wherein the drug demonstrated significant improvement in social behavior and a reduction in inattention/hyperactivity.
Key Pipeline Fragile X Syndrome Therapies
BPN14770: Tetra Therapeutics
Cannabidiol: Zynerba Pharmaceuticals
OV101: Ovid Therapeutics
Acamprosate: Confluence Pharmaceuticals
Trofinetide: Neuren Pharmaceuticals
Dive deeper for rich insights into Fragile X syndrome market forecast
Neurofibromatosis Type-2 (NF2) Market
Neurofibromatosis type 2 (NF2) is a rare genetic autosomal dominant, neurological, and neurogenerative condition that is a slow-growing benign tumor located in the central nervous systems (CNS), brain, and spinal cord. The total diagnosed NF2 prevalence in the G-8 countries (the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), Japan, and China) were 59,274 cases in 2020.
Surgery is the primary Neurofibromatosis Type-2 treatment for large symptomatic vestibular schwannomas. Small asymptomatic vestibular schwannomas are managed conservatively with MRI follow-up and localized radiation therapy can help manage vestibular schwannomas. However, the treatments are non-curative and are associated with high morbidity.
However, the Neurofibromatosis type 2 market is witnessing the transformation owing to an increase in the prevalence, better disease awareness, heightened R&D, and emerging therapies in the near future. DelveInsight expects the NF2 market to grow at a CAGR of 7.46% during the next decade.
Key Pipeline Neurofibromatosis Type-2 Therapies
AR-42/ REC-2282: Recursion Pharmaceuticals
Dive deeper for rich insights into Neurofibromatosis Type-2 (NF2) Market Insights
Undoubtedly, improvements have been made in the management of rare diseases. With the confluence of scientific and technological developments, support from organizations, tie-ups between industry and academics, shift towards novel drug-discovery models, Rare disease research has enabled several breakthroughs to enter the market and many others in the near pipeline gearing to enter. However, the growth is met with roadblocks in the form of lack of funding and support, hesitation of pharmaceutical companies to explore the rare disease market, and trial failures.
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DelveInsight's 'Essential Thrombocythemia (ET) Market Insights, Epidemiology, and Market Forecast–2030' report.
DelveInsight's "Alpha-Antitrypsin Deficiency Market Insights, Epidemiology, and Market Forecast-2030" report.
DelveInsight's 'Lamellar Ichthyosis (LI) Market Insights, Epidemiology and Market Forecast-2030' report.
DelveInsight's 'Dravet Syndrome Market Insights, Epidemiology, and Market Forecast – 2030' report.
DelveInsight's "Ankylosing Spondylitis Market Insights, Epidemiology, and Market Forecast-2030" report.
DelveInsight's "Guillain-Barre Syndrome (GBS) - Market Insights, Epidemiology, and Market Forecast-2030" report.
DelveInsight's "Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) - Market Insights, Epidemiology, and Market Forecast-2030" report.
DelveInsight's 'Angelman Syndrome Market Insights, Epidemiology, and Market Forecast –
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SOURCE DelveInsight Business Research, LLP