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Niemann-Pick disease (NPC) is a rare advanced genetic cholesterol storage disorder. It is characterized by the body’s inability to transport cholesterol and other fatty substances (lipids) into the cells. Niemann-Pick disease leads to the irregular and harmful accumulation of fatty substances within various tissues of the body, including liver, spleen, and brain tissue. It is an autosomal recessive lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. The disease primarily affects children, with death occurring before or during adolescence but can also onset in later years of life as an adult. Niemann-Pick disease (NPC) is a relatively rare genetic disorder with NPD type A and B affecting 1 in 250,000, and NPD type C affecting 1 in 150,000 live births. However, certain populations may be affected more frequently by NPD. There are five types identified namely type A, type B, type C, type D, and type E. NPD types A and B, also called type I NPD, are caused by low levels of an enzyme called acid sphingomyelinase, which is essential to metabolize a lipid called sphingomyelin. Abnormalities in sphingomyelin metabolization can cause it to accumulate in cells, resulting in organ failure. NPD type A occurs in newborns and mainly affects the brain and liver. Babies with Niemann-Pick disease type A rarely survive past 18 months of age. NPD type B usually develops symptoms in the preteen years and leads to anomalies related to the liver, lung, and spleen. It can lead to frequent lung infections and damaged overall growth. Niemann-Pick disease (NPD) types C and D, also called type II NPD, leads to disruption in the movement of cholesterol between brain cells and can lead to dementia before adolescence. NPD types C and D may appear anytime between infancy and adulthood. NPD types C or D does not affect the spleen and liver much, but brain damage can be extensive. NPD type E occurs in adults and is extremely rare. Symptoms include swelling of the spleen and neurological problems.

The general signs and symptoms associated with NPD include cerebellar ataxia, dysphagia (difficulty in swallowing), dysarthria (slurred speech), tremor, sleep inversion, loss of muscle tone or drop attacks, dystonia, drooping eyes, progressive hearing loss, bipolar disorder, microcephaly (abnormally small head), psychosis, progressive dementia, major and psychotic depression that can include hallucinations, delusions, and mutism.

Niemann-Pick disease can be diagnosed by appropriate laboratory tests after the physician determines based on symptoms. The various tests involved are identification of mutations in the NPC1 or NPC2 gene (gene sequencing) and evaluation of the function of the protein or the manifestation of accumulated byproducts (biochemical tests).

There is no cure for type A NPD disease but researchers are constantly working on developing new possible treatments such as enzyme replacement and gene therapy. For Type D, there is no actual treatment; however, palliative care can be provided through some drugs to manage the nervous system symptoms of Type C disease. Increasing funding and research support from private as well as government organizations is expected to yield promising results in the pipeline of Niemann-Pick disease treatment over the next few years. Moreover, technological advancements in gene and enzyme replacement therapy are also anticipated to help in developing effective treatments for this debilitating condition. For instance, Sanofi Genzyme's experimental enzyme-replacement therapy olipudase alfa granted the ‘Breakthrough Therapy’ status has entered the pivotal phase 2/3 trial for adult patients with acid sphingomyelinase deficiency.

Some of the key market players having a therapeutic pipeline for Niemann-Pick disease treatment include Sanofi Genzyme, Aldagen Inc., Alexion Pharmaceuticals, CTD Holdings, Inc., Orphazyme ApS , Actelion Pharmaceuticals Ltd, Vtesse Inc., Merck & Co., Inc., and Okklo Life Sciences BV.

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
  • Europe
  • 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.

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