Hereditary Transthyretin Amyloidosis Hattr Epidemiology Forecast Insight

DelveInsight’s ‘Hereditary Transthyretin Amyloidosis (hATTR) - Epidemiology Forecast–2030’ report delivers an in-depth understanding of the disease, historical and forecasted hATTR epidemiology in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan.

Geographies Covered

  • The United States
  • EU5 (Germany, Spain, Italy, France, and United Kingdom)
  • Japan

Study Period: 2018–2030

hATTR Understanding

Transthyretin (earlier known as prealbumin) is an abundant, soluble, β-strand rich 55 kDa homotetramer serum protein that is responsible for the transportation of both vitamin A (via retinol-binding protein) and thyroxin throughout the body. TTR is also involved in the binding and redistribution of β-amyloid in the choroid plexus as well as in the retention of T4 in the cerebral spinal fluid (CSF). TTR may sometimes dissociate into its 127-amino acid monomeric subunits and undergo aberrant changes to form amyloidogenic intermediates. These intermediates then might self-associate to become amyloid fibrils that accumulate as amyloid deposits throughout the body, resulting in Transthyretin Amyloidosis.  Transthyretin Amyloidosis (ATTR) can be sub-classified as wild-type (wt) or hereditary, and the latter is then further sub-divided into familial amyloid polyneuropathy (FAP) and familial amyloid cardiomyopathy (FAC).

 

The hereditary forms of amyloidosis are autosomal dominant diseases characterized by deposition of variant proteins, in distinctive tissues. The most common hereditary form is transthyretin amyloidosis (ATTR) caused by the misfolding of protein monomers derived from the tetrameric protein transthyretin (TTR). Mutations in the gene for TTR frequently result in instability of TTR and subsequent fibril formation. Closely related is wild-type TTR in which the native TTR protein, particularly in the elderly, can destabilize and re-aggregate causing nonfamilial cases of TTR amyloidosis.

 

Familial transthyretin amyloidosis (FTA) is caused by changes (mutations) in the TTR gene. This gene is responsible for making a protein called transthyretin which transports vitamin A and a hormone called thyroxin too many parts of the body. Mutations in TTR lead to a transthyretin protein that is not made correctly. The faulty protein then folds up to form amyloid. Amyloid builds up in various parts of the body causing nerve and tissue damage. Most people who have FTA have inherited the TTR mutation from a family member. However, a few people with FTA will have no family history of the disease and have a new (de novo) mutation in the TTR gene.

 

hATTR Diagnosis

Disease heterogeneity and its rarity make a diagnosis of hATTR amyloidosis challenging. However, making a correct diagnosis is vital to determining prognosis, treatment, and appropriate patient and family counseling. Timely diagnosis is also important because it allows patients the opportunity to receive appropriate care as early as possible in the disease course.

 

Diagnosis can be confirmed via biopsy of the affected tissue or organ followed by staining with Congo red to confirm the presence of amyloid. Diagnosis can be established less invasively through biopsy of the salivary gland, endoscopic biopsy of the gastric mucosa, or subcutaneous fat aspiration. Western blot analysis, immunohistochemical staining, laser microdissection, proteomics, and mass spectrometry are subsequently used to characterize amyloid type. Limitations of biopsy are due to the often patchy distribution of amyloid deposits, sometimes necessitating multiple biopsies to confirm or exclude the diagnosis. Additionally, biopsy sensitivity depends on multiple factors, such as pathologist experience and protocol for Congo red staining. In patients with a family history of disease and/or evaluation of symptomatic burden (ie, polyneuropathy), genetic testing is a crucial component to confirm a hATTR amyloidosis diagnosis as it identifies the specific TTR mutation present. Presymptomatic testing is now widely available and may be performed at the request of the patient with appropriate genetic counseling and follow-up.

 

Initial laboratory testing should include a complete blood count with red cell indices, HPLC or Hb electrophoresis, and eventually α/β-globin chain synthesis ratio measurement. The latter procedure, however, is sometimes bypassed by DNA analysis as a less complicated method to diagnose α- thalassemia.

hATTR Epidemiology Perspective by DelveInsight

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by total prevalent cases of hATTR, diagnosed prevalent cases of hATTR, type-specific cases of hATTR, stage-specific cases of hATTR, and New York Heart Association (NYHA) classification of familial amyloid cardiomyopathy (FAC) in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan market from 2018 to 2030.

 

Key Findings

This section provides glimpse of the hATTR epidemiology in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan.

  • The total diagnosed prevalent cases of hATTR in the 7MM range from 13,540 in 2020 growing at a CAGR of 5.05% during the study period (2018–2030).
  • Epidemiology assessed for the condition showed that the US, in 2020, accounted for approximately 15,312 prevalent cases of hATTR.
  • Among the EU-5 countries in 2020, France had the highest diagnosed prevalent cases of hATTR with 1,480 cases. In contrast, Germany had the lowest cases (518) in 2020.
  • Japan accounted for 648 diagnosed prevalent hATTR cases in 2020.
  • In the US, in 2020, the highest proportion of type-specific cases were observed in Familial Amyloid Polyneuropathy (FAP) in comparison to Familial Amyloid Cardiomiopathy (FAC) and Mixed hATTR Type.
  • In the EU-5, NYHA Class II (748) accounted for the highest cases in 2020, followed by NYHA Class III (303) and NYHA Class I (175).
  • Among the stage-specific diagnosed prevalent contribution, in Japan stage 3 cases were observed to be 47 and stage 1 cases were 180 in 2020.
  • The United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan – hATTR Epidemiology

Scope of the Report

  • The report covers the descriptive overview of hATTR, explaining its causes, signs and symptoms, pathogenesis and currently available drug.
  • Comprehensive insight has been provided into the hATTR epidemiology and treatment.
  • Additionally, an all-inclusive account of both the current and emerging drug for hATTR are provided, along with the assessment of new drug, which will have an impact on the current hATTR treatment landscape.
  • A detailed review of hATTR market; historical and forecasted is included in the report, covering the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan drug outreach.
  • The report provides an edge while developing business strategies, by understanding trends shaping and driving the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan hATTR market.

Report Highlights

  • In the coming years, hATTR market is set to change due to the rising awareness of the disease, and incremental healthcare spending across the world; which would expand the size of the market to enable the drug manufacturers to penetrate more into the market.
  • The companies and academics are working to assess challenges and seek opportunities that could influence hATTR R&D. The drug under development are focused on novel approaches to treat/improve the disease condition.
  • Delvelnsight has analysed the total age-specific and total vaccinated population of hATTR.

Key Questions Answered

  • What is the disease risk, burden and unmet needs of hATTR?
  • What is the historical hATTR patient pool in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan?
  • What would be the forecasted patient pool of hATTR at the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan level?
  • What will be the growth opportunities in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan with respect to the patient population pertaining to hATTR?
  • At what CAGR the population is expected to grow in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan during the forecast period (2021–2030)?

Reasons to buy

The hATTR report will allow the user to -

  • The report will help in developing business strategies by understanding trends shaping and driving the hATTR.
  • To understand the future market competition in the hATTR market and Insightful review of the key market drivers and barriers.
  • Organize sales and marketing efforts by identifying the best opportunities for hATTR in the United States, EU5 (Germany, Spain, Italy, France, and 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 hATTR market.
  • To understand the future market competition in the hATTR market.

Key Assessments

  • Patient Segmentation
  • Disease Risk and Burden
  • Risk of disease by the segmentation
  • Factors driving growth in a specific patient population

1. Key Insights

2. Report Introduction

3. Executive Summary of hATTR

4. Key Events

5. Epidemiology Forecast Methodology

6. Disease Background and Overview

6.1. Signs and Symptoms

6.2. Causes

6.3. Clinical Features

6.4. Pathophysiology

6.5. Diagnosis

6.5.1. Tissue biopsy

6.5.2. Serum variant TTR protein

6.5.3. Genetic confirmation

6.6. Confirmation of hATTR Amyloidosis diagnosis

7. Epidemiology and Patient Population

7.1. Key Findings

7.2. Epidemiology Methodology

7.3. Total Prevalent Population of hATTR in the 7MM

7.4. Total Diagnosed Prevalent Population of hATTR in the 7MM

7.5. Assumptions and Rationale

7.6. The United States

7.6.1. Total Prevalent Population of hATTR in the United States

7.6.2. Total Diagnosed Prevalent Population of hATTR in the United States

7.6.3. Type-specific Cases of hATTR in the United States

7.7. Stage-specific Cases of Familial Amyloid Polyneuropathy (FAP) in the United States

7.7.1. New York Heart Association (NYHA) Classification of Familial Amyloid Cardiomyopathy (FAC) in the United States

7.7.2. EU5

7.7.3. Total Prevalent Population of hATTR in EU5

7.8. Total Diagnosed Prevalent Population of hATTR in EU5

7.8.1. Type-specific Cases of hATTR in EU5

7.8.2. Stage-specific Cases of Familial Amyloid Polyneuropathy (FAP) in EU5

7.8.3. New York Heart Association (NYHA) Classification of Familial Amyloid Cardiomyopathy (FAC) in EU5

7.9. Japan

7.9.1. Total Prevalent Population of hATTR in Japan

7.9.2. Total Diagnosed Prevalent Population of hATTR in Japan

7.9.3. Type-specific Cases of hATTR in Japan

7.9.4. Stage-specific Cases of Familial Amyloid Polyneuropathy (FAP) in Japan

7.9.5. New York Heart Association (NYHA) Classification of Familial Amyloid Cardiomyopathy (FAC) in Japan

8. Report Methodology

9. DelveInsight Capabilities

10. Disclaimer

11. About DelveInsight

List of Table

Table 1: Summary of Hereditary Transthyretin Amyloidosis (hATTR) Market, and Epidemiology (2018–2030)

Table 2: Key Events

Table 3: Diagnostic tools for patients presenting with cardiomyopathy

Table 4: Clinical staging of TTR-FAP (based on Coutinho et al)

Table 5: Disease staging based on PND score

Table 6: Portuguese classification system to evaluate the severity of TTR-FAP

Table 7: Typical clinical features of later disease (average 4 years post onset; the usual delay in diagnosis)

Table 8: Total Prevalent Population of hATTR in the 7MM (2018–2030)

Table 9: Total Diagnosed Prevalent Population of HATTR in the 7MM (2018–2030)

Table 10: Total Prevalent Population of hATTR in the US (2018–2030)

Table 11: Total Diagnosed Prevalent Population of hATTR in the US (2018–2030)

Table 12: Type-specific Cases of hATTR in the US (2018–2030)

Table 13: Type-specific Cases of hATTR in the US (2018–2030)

Table 14: Stage-specific Cases of FAP in the United States (2018–2030)

Table 15: New York Heart Association (NYHA) Classification of FAC in the United States (2018–2030)

Table 16: Total Prevalent Population of hATTR in EU5 (2018–2030)

Table 17: Total Diagnosed Prevalent Population of hATTR in EU5 (2018–2030)

Table 18: Type-specific Cases of hATTR in EU5 (2018–2030)

Table 19: Stage-specific Cases of FAP in EU5 (2018–2030)

Table 20: New York Heart Association (NYHA) Classification of FAC in EU5 (2018–2030)

Table 21: Total Prevalent Population of hATTR in Japan (2018–2030)

Table 22: Total Diagnosed Prevalent Population of hATTR in the Japan (2018–2030)

Table 23: Type-specific Cases of hATTR in Japan (2018–2030)

Table 24: Stage-specific Cases of FAP in Japan (2018–2030)

Table 25: New York Heart Association (NYHA) Classification of FAC in Japan (2018–2030)

List of Figures

Figure 1: Transthyretin amyloid formation and mechanisms of familial amyloid polyneuropathy therapies

Figure 2: Pathogenesis of Transthyretin Amyloidosis

Figure 3: Red flag symptoms of hATTR Amyloidosis

Figure 4: Clinical findings indicative of hATTR

Figure 5: Pathway for patients with Transthyretin Amyloidosis with polyneuropathy

Figure 6: Total Prevalent Population of hATTR in the 7MM (2018–2030)

Figure 7: Total Diagnosed Prevalent Population of hATTR in the 7MM (2018–2030)

Figure 8: Total Prevalent Population of hATTR in the US (2018–2030)

Figure 9: Total Diagnosed Prevalent Population of hATTR in the US (2018–2030)

Figure 10: Stage-specific Cases of FAP in the United States (2018–2030)

Figure 11: NYHA Classification of FAC in the United States (2018–2030)

Figure 12: Total Prevalent Population of hATTR in EU5 (2018–2030)

Figure 13: Total Diagnosed Prevalent Population of hATTR in EU5 (2018–2030)

Figure 14: Type-specific Cases of hATTR in EU5 (2018–2030)

Figure 15: Stage-specific Cases of FAP in EU5 (2018–2030)

Figure 16: New York Heart Association (NYHA) Classification of FAC in EU5 (2018–2030)

Figure 17: Total Prevalent Population of hATTR in Japan (2018–2030)

Figure 18: Total Diagnosed Prevalent Population of hATTR in Japan (2018–2030)

Figure 19: Type-specific Cases of hATTR in Japan (2018–2030)

Figure 20: Stage-specific Cases of FAP in Japan (2018–2030)

Figure 21: New York Heart Association (NYHA) Classification of FAC in Japan (2018–2030)

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