DelveInsight’s ‘Dup15q Syndrome - Market Insights, Epidemiology, and Market Forecast–2030’ report deliver an in-depth understanding of the Dup15q syndrome, historical and forecasted epidemiology as well as the Dup15q syndrome market trends in the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom) and Japan.
The Dup15q syndrome market report provides current treatment practices, emerging drugs, and market share of the individual therapies, current and forecasted 7MM Dup15q syndrome market size from 2017 to 2030. The Report also covers current Dup15q syndrome treatment practices, market drivers, market barriers, and unmet medical needs to curate the best of the opportunities and assesses the underlying potential of the market.
• The United States
• EU5 (Germany, France, Italy, Spain, and the United Kingdom)
Study Period: 2017–2030
Dup15q Syndrome Disease Understanding and Treatment Algorithm
Dup15q Syndrome Overview
Dup15q syndrome is a clinically identifiable syndrome that results from the duplication (or multiplication) of a portion of chromosome 15.
Each chromosome has unique regions or bands that contain genes, and each band is labeled numerically. The extra genetic material known as Dup15q syndrome contains the bands on chromosome 15 at the q arm labeled 11.2–13.1 (also referred to as the Prader-Willi/Angelman critical region [PWACR]). It can span past these bands but must contain the 11.2–13.1 region to be identified as Dup15q syndrome. The duplications occur by one of the two mechanisms isodicentric 15 chromosome [idic (15)], or an interstitial duplication 15 [int dup(15)].
The syndrome is characterized by hypotonia and gross and fine motor delays, variable intellectual disability (ID), autism spectrum disorder (ASD), and epilepsy, including infantile spasms. These characteristics of the disease vary from patient to patient and are influenced by parent-of-origin of the duplication and number of copies of the PWACR.
Dup15q Syndrome Diagnosis
Dup15q syndrome can be suspected in infants or children with early central hypotonia, minor dysmorphic features, developmental delay or intellectual disability, autism or autistic-like behavior, who subsequently develops hard to control seizures or epilepsy. Mild-to-moderate dysmorphic features, including the upturned nose, epicanthal folds, and down slanting palpebral fissures and behavioral difficulties including hyperactivity, anxiety, or emotional lability, are also more common in these patients.
The diagnosis of Dup15q syndrome can be confirmed by detection of at least one extra maternally derived copy of the PWACR, a region approximately 5 Mb long within chromosome 15q11.2-q13.1.
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Dup15q Syndrome Treatment
There is no cure currently available for chromosome 15q duplication, and since there is such a broad spectrum of related symptoms, treatment is symptomatic and supportive. To determine the extent and problems associated with Dup15q syndrome, physical examination, assessments of possible feeding difficulties associated with hypotonia, neurologic examinations including assessment for seizure activity and baseline EEG and consultation with a clinical geneticist and/or genetic counselor are recommended.
The evaluation of motor and speech development in infants is carried out by a multidisciplinary team and should assist in referring to suitable educational programs.
Supportive care includes occupational and physical therapy, alternative and augmentative communication, behavioral therapy (e.g., applied behavioral analysis therapy), psychotropic medications for behavioral manifestations, and standard management for seizures including medications, vagus nerve stimulators, and/or ketogenic diets.
The most commonly prescribed medications include valproic acid, levetiracetam, lamotrigine, carbamazepine, zonisamide, and clonazepam.
Dup15q Syndrome Epidemiology
The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by Total Prevalent Population of Dup15q Syndrome, Total Diagnosed Prevalent Population of Dup15q Syndrome, and Type-specific Diagnosed Prevalent Population of Dup15q Syndrome scenario of Dup15q syndrome in the 7MM covering the United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom) and Japan from 2017 to 2030.
• Total prevalent cases of Dup15q syndrome in the 7MM was found to be 45,884 in 2017.
• Total prevalent cases of Dup15q syndrome in the US were found to be 22,077 in 2017.
• Total diagnosed prevalent cases of Dup15q syndrome in the US were found to be 4,415 in 2017.
• Among the European 5 countries, Germany had the highest diagnosed population of Dup15q syndrome with 793 cases, followed by the United Kingdom and Italy respectively. On the other hand, Spain had the lowest population of 323 cases in 2017.
• In 2017, out of the total diagnosed cases (4,415) in the US for Dup15q syndrome, 2,649 cases and 1,766 cases were contributed by idic (15) and int dup (15), respectively.
• Japan had 8,374 prevalent cases of Dup15q syndrome in 2017. Out, of these cases, approximately 20% were the diagnosed population.
Dup15q Syndrome Epidemiology
The epidemiology segment also provides the Dup15q syndrome epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom) and Japan.
Dup15q Syndrome Drug Chapters
The drug chapter segment of the Dup15q syndrome report encloses the detailed analysis of Dup15q syndrome pipeline drugs. It also helps to understand the Dup15q syndrome clinical trial details, expressive pharmacological action, agreements and collaborations, and patent details of included drug and the latest news and press releases.
Dup15q Syndrome Emerging Drugs
Soticlestat (OV935/TAK-935): Ovid Therapeutics/Takeda
Soticlestat, previously called TAK-935 or OV935, is an investigational treatment developed by Takeda Pharmaceuticals in collaboration with Ovid Therapeutics to treat rare developmental and epileptic encephalopathies (DEE). It is a potent, highly selective, first-in-class inhibitor of the enzyme cholesterol 24-hydroxylase (CH24H), with the potential to reduce seizure susceptibility and improve seizure control, and have an oral route of administration.
Soticlestat inhibits the activity of an enzyme called cholesterol 24-hydroxylase (CH24H), which is found at high levels in the brain where it plays a role in cholesterol metabolism. Research has shown that it is also involved in regulating a neurotransmitter or cell-signaling molecule called glutamate. One of the main neurotransmitters in the brain is glutamate that can increase the initiation and spread of seizure activity. High levels of CH24H activate glutamate signaling pathways, so by inhibiting CH24H, Soticlestat should be able to reduce the number and severity of seizures. As per Ovid, Soticlestat is the only molecule with this mechanism of action in clinical development as an anti-epileptic drug (AED).
Products detail in the report…
Dup15q Syndrome Market Outlook
Most of the patients suffering from the Dup15q syndrome show a variety of symptoms, and the current treatment approach helps in managing them. The choice of treatment to be adopted depends on the type of symptoms the person is showing.
A study was conducted to examine the phenotypes and treatments of seizures in Dup15q in a large population. In the study, ~400 families were contacted through the Dup15q Alliance and asked to complete a questionnaire survey online regarding the presence and presentation of epilepsy in their family member with a chromosome 15q duplication. There were responses from 95 family members of individuals with chromosome 15q duplications, representing a response rate of ~25% of the entire Dup15q Alliance in 2009.
For the 22 children with infantile spasms, the most common first and second medications used were adrenocorticotropic hormone (ACTH)/prednisone (5, first; 7, second) and vigabatrin (VGB; 5, first; 2, second), with the only other medications used by more than one respondent being valproic acid (VPA, 2) and topiramate (TPM, 2). ACTH/prednisone was more effective than VGB in controlling seizures (75% vs. 29% with >90% seizure reduction for those that tried each medication) with similar rates of seizure exacerbation. For all other seizure types, there was an overall 24% response rate to the first medication prescribed, with an additional 21% showing 50–90% seizure improvement (61%). For the second medication prescribed (45%), there was a 36% response rate. The most commonly prescribed medications were VPA (60%), levetiracetam (LEV, 44%), TPM (40%), lamotrigine (LTG, 37%), carbamazepine (CBZ, 35%), zonisamide (ZNS, 23%), and clonazepam (CLZ, 23%). Family members believed that the most effective medications for controlling seizures were the following: rufinamide (RUF; 12%), CBZ (35%), LTG (37%), oxcarbazepine (OXC; 12%), and VPA (60%). Overall, only 1 (<5%) of 22 of those who tried a benzodiazepine indicated that it was the most effective medication. The percentage of those still taking each medication at the time of the study was highest in broad-spectrum AED such as RUF (12%), LTG (37%), VPA (60%), and ZNS (23%). Intolerable adverse effects were reported most frequently in those taking LEV (52%, most common behavioral), ZNS (50%, sedation), clobazam (CLB; 50%, sedation), OXC (50%, sedation), and TPM (48%, sedation). Only a few respondents had family members who tried nonpharmacologic treatments including the ketogenic diet (2%), vagus nerve stimulation (13%), gluten-free diet (2%), and surgical resection (2%) (Conant et al., 2014).
The Dup15q syndrome has received little attention because of its rarity, the fairly nonspecific phenotype, the clinical heterogeneity, and the wide spectrum of severity. Along with developmental delay, ASD and epilepsy are predominant components of the clinical picture. In a retrospective cohort of 30 unrelated patients, 77% of cases met the criteria for developmental delay, while 74% had a diagnosis of ASD.
So far there is no approved therapy for the treatment of the disease and the present management options provide symptomatic treatment. In the developmental pipeline, one therapy is there that is under investigation for Dup15q syndrome.
According to DelveInsight, Dup15q syndrome market in the 7MM is expected to change in the study period 2017–2030.
• The market size of Dup15q syndrome in the 7MM was USD 15.69 million in 2017.
• The market size of Dup15q syndrome in the US was USD 8.94 million in 2017.
• In 2017, among the EU-5 countries, Germany had the highest market size of USD 1.12 million, followed by the United Kingdom, and Italy. The lowest market size was estimated in Spain with USD 0.46 million in 2017.
• Till now, there are no approved therapies for the disease. The treatment available provides supportive/symptomatic management. Additionally, not many companies are investigating this therapeutic area, hence there is only one therapy that is expected to be launched in the forecasted period (2020–2030).
• Soticlestat (OV935/TAK-935) is expected to be launched in 2024 in the US, and 2025 in EU-5 and Japan. The molecule is anticipated to be approved as adjuvant therapy, hence it’s approval will not affect the market size of supportive therapies, and the market size of these therapies will continue to increase throughout the study period.
• In the year 2017, the market size of supportive/symptomatic treatment was observed to be USD 15.69 million in the 7MM.
• The market size of Japan in 2017 was observed at USD 2.37 million.
The United States Market Outlook
This section provides the total Dup15q syndrome market size and; market size by therapies in the United States.
EU-5 Market Outlook
The total Dup15q syndrome market size and market size by therapies in Germany, France, Italy, Spain, and the United Kingdom are provided in this section.
Japan Market Outlook
The total Dup15q syndrome market size and market size by therapies in Japan are provided.
Dup15q Syndrome Drugs Uptake
This section focusses on the rate of uptake of the potential drugs in the Dup15q syndrome market or expected to get launched in the market during the study period 2017–2030. The analysis covers the Dup15q syndrome market uptake by drugs; patient uptake by therapies; and sales of each drug.
This helps in understanding the drugs with the most rapid uptake, reasons behind the maximal use of new drugs and allows the comparison of the drugs based on market share and size which again will be useful in investigating factors important in market uptake and in making financial and regulatory decisions.
Dup15q Syndrome Development Activities
The report provides insights into different therapeutic candidates in the phase II clinical stage. It also analyzes key players involved in developing targeted therapeutics.
Pipeline Development Activities
The report covers the detailed information of collaborations, acquisition, and merger, licensing and patent details for Dup15q syndrome emerging therapies.
Competitive Intelligence Analysis
We perform competitive and market Intelligence analysis of the Dup15q syndrome market by using various competitive intelligence tools that include–SWOT analysis, PESTLE analysis, Porter’s five forces, BCG Matrix, Market entry strategies, etc. The inclusion of the analysis entirely depends upon the data availability.
Scope of the Report
• The report covers the descriptive overview of Dup15q syndrome, explaining its signs and symptoms, genes associated with the disease and currently available therapies.
• Comprehensive insight has been provided into the Dup15q syndrome epidemiology and treatment.
• Additionally, an all-inclusive account of both the current and emerging therapies for Dup15q syndrome is provided, along with the assessment of new therapies, which will have an impact on the current treatment landscape.
• A detailed review of the Dup15q syndrome market; historical and forecasted is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies, by understanding trends shaping and driving the 7MM Dup15q syndrome market.
• The increasing prevalence of the disease along with promising emerging pipeline therapies will positively drive the Dup15q syndrome market.
• The companies and academics are working to assess challenges and seek opportunities that could influence Dup15q syndrome R&D. The therapies under development are focused on novel approaches to treat/improve the disease condition.
• Major players are involved in developing therapies for Dup15q syndrome. Launch of emerging therapy will significantly impact the Dup15q syndrome market.
• Our in-depth analysis of the pipeline assets across different stages of development, different emerging trends and comparative analysis of pipeline products with detailed clinical profiles, key cross-competition, launch date along with product development activities will support the clients in the decision-making process regarding their therapeutic portfolio by identifying the overall scenario of the research and development activities.
Dup15q Syndrome Report Insights
• Patient Population
• Therapeutic Approaches
• Dup15q Syndrome Pipeline Analysis
• Dup15q Syndrome Market Size and Trends
• Market Opportunities
• Impact of upcoming Therapies
Dup15q Syndrome Report Key Strengths
• Eleven Years Forecast
• 7MM Coverage
• Dup15q Syndrome Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed Market
• Drugs Uptake
Dup15q Syndrome Report Assessment
• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Market Drivers and Barriers
• What was the Dup15q syndrome market share (%) distribution in 2017 and how it would look like in 2030?
• What would be the Dup15q syndrome total market size as well as market size by therapies across the 7MM during the forecast period (2020–2030)?
• What are the key findings pertaining to the market across the 7MM and which country will have the largest Dup15q syndrome market size during the forecast period (2020–2030)?
• At what CAGR, the Dup15q syndrome market is expected to grow at the 7MM level during the forecast period (2020–2030)?
• What would be the Dup15q syndrome market outlook across the 7MM during the forecast period (2020–2030)?
• What would be the Dup15q syndrome market growth till 2030 and what will be the resultant market size in the year 2030?
• How would the market drivers, barriers and future opportunities affect the market dynamics and subsequent analysis of the associated trends?
• What is the disease risk, burden and unmet needs of Dup15q syndrome?
• What is the historical Dup15q syndrome patient pool in the United States, EU5 (Germany, France, Italy, Spain, and the UK) and Japan?
• What would be the forecasted patient pool of Dup15q syndrome at the 7MM level?
• What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Dup15q syndrome?
• Out of the above-mentioned countries, which country would have the highest prevalent population of Dup15q syndrome during the forecast period (2020–2030)?
• At what CAGR the population is expected to grow across the 7MM during the forecast period (2020–2030)?
Current Treatment Scenario, Marketed Drugs, and Emerging Therapies:
• What are the current options for the treatment of Dup15q syndrome along with the approved therapy?
• What are the current treatment guidelines for the treatment of Dup15q syndrome in the US and Europe?
• How many companies are developing therapies for the treatment of Dup15q syndrome?
• How many emerging therapies are in the mid-stage and late stages of development for the treatment of Dup15q syndrome?
• What are the key collaborations (Industry–Industry, Industry-Academia), Mergers and acquisitions, licensing activities related to the Dup15q syndrome therapies?
• What are the recent novel therapies, targets, mechanisms of action and technologies developed to overcome the limitation of existing therapies?
• What are the clinical studies going on for Dup15q syndrome and their status?
• What are the key designations that have been granted for the emerging therapies for Dup15q syndrome?
• What are the 7MM historical and forecasted market of Dup15q syndrome?
Reasons to buy
• The report will help in developing business strategies by understanding trends shaping and driving the Dup15q syndrome.
• To understand the future market competition in the Dup15q syndrome market and Insightful review of the key market drivers and barriers.
• Organize sales and marketing efforts by identifying the best opportunities for Dup15q syndrome in the US, Europe (Germany, Spain, Italy, France, and the United Kingdom) and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Organize sales and marketing efforts by identifying the best opportunities for the Dup15q syndrome market.
• To understand the future market competition in the Dup15q syndrome market.
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