Mucopolysaccharidosis II (MPS II)/ Hunter syndrome is a congenital condition which leads to complications in carbohydrate metabolism. The first individual with X-linked Mucopolysaccharidosis (MPS) was first reported in 1917 by a clinician named Hunter. Hunter syndrome is known to occur almost exclusively in males and is characterized by distinctive facial features such as puffy lips, a large head, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). Mucopolysaccharidosis II (MPS II)/ Hunter syndrome is caused by mutations in the IDS (iduronate 2-sulfatase) gene and is inherited in an X-linked manner. Hunter syndrome is a complex debilitating disease that leads to various anatomical and physiological anomalies with increasing age.
At birth, individuals with MPS II do not display any features of the condition. But with increasing age, the patient develops the above mentioned conditions. Moreover, the vocal cords also expand, which leads to a deep, hoarse voice. An enlarged tongue (macroglossia) and narrowing of the trachea results in upper respiratory infections and sleep apnea. As the syndrome develops, patients need medical assistance to keep their airway open. Patients with this disorder often develop an enlarged liver and spleen (hepatosplenomegaly), a large head (macrocephaly) and fluid buildup in the brain (hydrocephalus), umbilical hernia or lower abdomen hernia (inguinal hernia). The patients additionally have joint deformities and heart defects including the valves. Most individuals also develop hearing loss and have recurring ear infections. The patient also faces difficulties with the retina and has reduced vision. The effects on other bone joints, such as hips and knees, can lead to increased difficulties in walking normally. Hunter syndrome can also lead to development of carpal tunnel syndrome in young children resulting in a further decrease in hand function. The effect on bones results in short stature. Furthermore, pebbly, white skin lesions can be seen on the upper arms, legs, and back of some individuals with Hunter syndrome. The level and severity of progression is different for every individual with Hunter syndrome.
Although Hunter syndrome is associated with a wide range in severity of symptoms present in individuals, it has been classified as severe and mild/attenuated. The differences between the severe and attenuated forms are mainly characterized by the progressive development of neurodegeneration in the severe form. Hunter syndrome is a rare disorder affecting 1 in 100,000 to 1 in 150,000 males. As per an estimate 1 in 25,000 births result in some form of MPS in the United States. The obvious symptoms and signs of Hunter syndrome (MPS II) in younger people are typically the first indications leading to a diagnosis. A variety of diagnostic tests can be done to determine the presence of Hunter syndrome in an individual including genetic testing, and iduronate-2-sulfatase (I2S) enzyme activity test. The most frequently used laboratory screening test for an MPS disorder is a urine test for GAGs. It is important to note that a child can be suffering from an MPS syndrome and the urine test for GAG can still show normal results. A decisive diagnosis of Hunter syndrome can be done by determining I2S activity in white blood cells, serum, or fibroblasts from skin biopsy. Hunter syndrome can also be preventively detected effectively by prenatal diagnosis of I2S enzymatic activity in amniotic fluid.
The treatment regime for Hunter syndrome is determined depending on the severity of the symptoms and varies from patient to patient and on a case to case basis. Since there is no permanent cure for Hunter syndrome, the treatment mainly focuses on management of signs, indications, and complications associated with the disease progression. Palliative care is given to manage various conditions such as addressing heart complications, relief for respiratory complications, managing behavioral and neurological complications, addressing sleep issues, and treatment for skeletal and connective tissue problems. Some novel treatment approaches such as enzyme and gene therapy that are in early phases of development have helped in slowing the disease's progress and lessening its severity, making the Mucopolysaccharidosis II (MPS II)/ Hunter syndrome treatment market a promising avenue for research and development.
This study by TMR is all-encompassing framework of the dynamics of the market. It mainly comprises critical assessment of consumers' or customers' journeys, current and emerging avenues, and strategic framework to enable CXOs take effective decisions.
Our key underpinning is the 4-Quadrant Framework EIRS that offers detailed visualization of four elements:
- Customer Experience Maps
- Insights and Tools based on data-driven research
- Actionable Results to meet all the business priorities
- Strategic Frameworks to boost the growth journey
The study strives to evaluate the current and future growth prospects, untapped avenues, factors shaping their revenue potential, and demand and consumption patterns in the global market by breaking it into region-wise assessment.
The following regional segments are covered comprehensively:
- North America
- Asia Pacific
- Latin America
- The Middle East and Africa
The EIRS quadrant framework in the report sums up our wide spectrum of data-driven research and advisory for CXOs to help them make better decisions for their businesses and stay as leaders.
Below is a snapshot of these quadrants.
1. Customer Experience Map
The study offers an in-depth assessment of various customers’ journeys pertinent to the market and its segments. It offers various customer impressions about the products and service use. The analysis takes a closer look at their pain points and fears across various customer touchpoints. The consultation and business intelligence solutions will help interested stakeholders, including CXOs, define customer experience maps tailored to their needs. This will help them aim at boosting customer engagement with their brands.
2. Insights and Tools
The various insights in the study are based on elaborate cycles of primary and secondary research the analysts engage with during the course of research. The analysts and expert advisors at TMR adopt industry-wide, quantitative customer insights tools and market projection methodologies to arrive at results, which makes them reliable. The study not just offers estimations and projections, but also an uncluttered evaluation of these figures on the market dynamics. These insights merge data-driven research framework with qualitative consultations for business owners, CXOs, policy makers, and investors. The insights will also help their customers overcome their fears.
3. Actionable Results
The findings presented in this study by TMR are an indispensable guide for meeting all business priorities, including mission-critical ones. The results when implemented have shown tangible benefits to business stakeholders and industry entities to boost their performance. The results are tailored to fit the individual strategic framework. The study also illustrates some of the recent case studies on solving various problems by companies they faced in their consolidation journey.
4. Strategic Frameworks
The study equips businesses and anyone interested in the market to frame broad strategic frameworks. This has become more important than ever, given the current uncertainty due to COVID-19. The study deliberates on consultations to overcome various such past disruptions and foresees new ones to boost the preparedness. The frameworks help businesses plan their strategic alignments for recovery from such disruptive trends. Further, analysts at TMR helps you break down the complex scenario and bring resiliency in uncertain times.
The report sheds light on various aspects and answers pertinent questions on the market. Some of the important ones are:
1. What can be the best investment choices for venturing into new product and service lines?
2. What value propositions should businesses aim at while making new research and development funding?
3. Which regulations will be most helpful for stakeholders to boost their supply chain network?
4. Which regions might see the demand maturing in certain segments in near future?
5. What are the some of the best cost optimization strategies with vendors that some well-entrenched players have gained success with?
6. Which are the key perspectives that the C-suite are leveraging to move businesses to new growth trajectory?
7. Which government regulations might challenge the status of key regional markets?
8. How will the emerging political and economic scenario affect opportunities in key growth areas?
9. What are some of the value-grab opportunities in various segments?
10. What will be the barrier to entry for new players in the market?
Note: Although care has been taken to maintain the highest levels of accuracy in TMR’s reports, recent market/vendor-specific changes may take time to reflect in the analysis.