Maple Syrup Urine Disease (MSUD) – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2022 To 2032

Maple Syrup Urine Disease (MSUD) Market Outlook

Thelansis’s “Maple Syrup Urine Disease (MSUD) Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2022 To 2032" covers disease overview, epidemiology, drug utilization, prescription share analysis, competitive landscape, clinical practice, regulatory landscape, patient share, market uptake, market forecast, and key market insights under the potential Maple Syrup Urine Disease treatment modalities options for eight major markets (USA, Germany, France, Italy, Spain, UK, Japan, and China).

Maple Syrup Urine Disease (MSUD) Overview

Maple syrup urine disease (MSUD) is a rare inborn metabolic error characterized by reduced branched-chain ketoacid dehydrogenase enzyme activity. This deficiency can lead to severe irreversible neurocognitive deficits, underlining the importance of prompt diagnosis and treatment to mitigate the severity of complications. The branched-chain ketoacid dehydrogenase (BCKAD) complex is comprised of four subunits. These include the E1 subunit (BCKAD decarboxylase), the E2 subunit (dihydrolipoyl acyltransferase), and the E3 subunit (dihydrolipoamide dehydrogenase). Additionally, regulatory subunits known as BCKAD kinase and BCKAD phosphatase are associated with the core of the E2 subunit. The E1 subunit consists of E1alpha and two E1beta subunits. The root cause of the metabolic disorder lies in the decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex located within the mitochondria. This disorder is inherited in an autosomal recessive manner. Maple syrup urine disease manifests in five primary clinical phenotypes. There exist five clinical subtypes of MSUD: classic, Intermediate, Intermittent, Thiamine responsive, and E3 deficient. These subtypes are differentiated based on their clinical presentation, age of onset, and the remaining BCKAD enzyme activity. It is crucial to distinguish from other conditions that can present as neonatal encephalopathy. These include Hypoglycemia, Status epilepticus, Meningitis, Encephalitis, Kernicterus, Birth asphyxia, Urea cycle defects, and Organic acidopathies such as propionic acidemia and methylmalonic acidemia, HMG-CoA lyase deficiency, Beta-ketothiolase deficiency, and Non-ketotic hyperglycinemia. The treatment approach involves restricting dietary leucine, utilizing BCAA-free medical foods, supplementing judiciously with isoleucine and valine, and closely monitoring clinical and biochemical indicators. Catabolic illnesses can be managed in outpatient settings through a "sick-day" formula, frequent amino acid monitoring, stress management, and targeted nutritional support. The prognosis is more favorable for patients who commence therapy before or immediately after symptom onset. Plasma leucine concentrations influence neurocognitive outcomes. Notably, individuals with classic MSUD have demonstrated better cognitive performance in school-aged settings. Many adult MSUD patients can lead independent lives and integrate well into society, although psychological and psychiatric care is still required for a substantial portion. Late-onset MSUD cases might experience mild developmental delays depending on residual BCKAD activity. A delayed diagnosis of classic MSUD beyond 7 to 14 days can result in irreversible learning impairment and cerebral palsy.

• The calculated incidence of maple syrup urine disease in the United States is approximately 1 in 220,219 individuals.

Geography Covered:

North America- the United States and Canada

Europe- EU5 (Germany, France, Italy, Spain, and the United Kingdom)

Other countries- Japan & China

Study Period: 2022-2032

Current Clinical Practice and Treatment Algorithm

This section of the study covers country-specific current clinical practice, the standard of care, and significant limitations around addressing the unmet needs. Retrospective analysis and bench-marking of clinical study outcomes are presented in terms of Pre-treatment & post-treatment clinical and demographic patient characteristics. Essentially, this section will cover the evolution of the current competitive landscape and its impact on the future treatment paradigm.

KOL Insights:

KOLs across 8 MM markets from the center of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics, future treatment paradigm, and Unmet needs

Market Forecast: Patient Based Forecast Model (MS. Excel Based Automated Dashboard)

- Data Inputs with sourcing

- Market Event and Product Event

- Country-specific Forecast Model

- Market uptake and patient share uptake

- Attribute Analysis

- Analog Analysis

- Disease burden and pricing scenario

- Summary and Insights

NPV/ IRR Calculator-

Optimization of cash flow/ revenue flow concerning all fixed and variable investments throughout the product development process. The rate of return on an investment is a critical indicator to ensure the profitability and break-even of the project.

Competitive Landscape:

The competitive landscape includes country-specific approved as well as pipeline therapies. Any asset/product-specific designation or review such as Orphan drug designation, Fast track, Priority Review, Breakthrough Therapy Designation, Rare Pediatric Disease Designation, and Accelerated Approval are tracked and supplemented with analyst commentary.

Clinical Trial Assessment-

Detailed clinical trial data analysis and critical product positioning include trial design, primary outcomes, secondary outcomes, dosing and schedules, inclusion and exclusion criteria, recruitment status and essentially covers the reported adverse events. Majorly the trial analysis helps determine the potential of the critical assets and their probable filing and launch date.

Unmet Medical Needs Overview-

This report presents the most important clinical unmet needs in the treatment, according to Thelansis research and analysis. Other essential unmet needs identified through our study include decreased cost burden on patients, improved administration convenience, and improved patient compliance.

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