α1アンチトリプシン欠乏症

Abstract

Overview

Introduction

Despite being one of the most common hereditary diseases among Caucasians, low physician awareness and a lack of disease-modifying drugs have led to massive underdiagnosis of the condition. the resulting perceived small number of patients and restricted market is a major obstacle for the development of new treatments.

Scope

• Understand the epidemiology of alpha-1 antitrypsin deficiency and assess the untapped patient potential.
• Evaluate current strategies for the diagnosis and treatment of this disease.
• Assess the potential for new drugs and their potential for additional uses
• Gain an understanding of some of the principal challenges in the treatment of alpha 1 antitrypsin deficiency as defined by key opinion leaders.

Report Highlights

Prevalence estimates have identified 200,000 heterozygous patients in the US and Europe making alpha-1 antitrypsin deficiency one of the most common hereditary disorders in the Western world. However, physician resistance has led to the diagnosis of only a small proportion of the estimated population.

Enzyme replacement augmentation therapy is available but lacks randomized, controlled efficacy data. Although widely used in the US, augmentation therapy is unavailable in the UK and Denmark. Patients who receive standard COPD treatment in the UK have comparable mortality rates to US patients who receive augmentation therapy.

Inhaled alpha-1 antitrypsin therapy holds promise for the prevention of disease progression but a lack of efficacy data and drug delivery issues are hindering development. Roche has a gamma retinoid agonist, R-667, in Phase II trials and the drug is the only potential therapy that offers lung regeneration through the promotion of alveolar growth.

Reasons to Purchase

• Get an overview of alpha-1 antitrypsin deficient phenotypes and their prevalence in the US and Western European markets
• Assess the market opportunity, where established therapies and other developmental compounds fail to address key unmet clinical needs
• Enhance your commercial positioning through an improved understanding of the alpha-1 antitrypsin deficiency market dynamics

Table of Contents

• ABOUT DATAMONITOR HEALTHCARE
  • About the Respiratory & Infectious Disease (RID) analysis team
• CHAPTER 1 EXECUTIVE SUMMARY
  • Scope of the analysis
  • Datamonitor insight into the disease market
  • Related reports
• CHAPTER 2 DISEASE BACKGROUND
  • Alpha-1 antitrypsin deficiency is a hereditary disease found mainly in Caucasians
  • Etiology of alpha-1 antitrypsin deficiency
    • Genetics of Alpha-1 antitrypsin deficiency
    • Epidemiology
  • Emphysema
  • Liver disease
  • Unmet needs
  • Risk factors
    • Smoking
      • Environmental tobacco smoke exposure
    • Occupational exposure
    • Bacterial infections
    • Body mass index
• CHAPTER 3 DIAGNOSIS
  • Diagnosis of alpha-1 antitrypsin deficiency
    • Lung function
    • Imaging
    • Serum alpha-1 antitrypsin levels
    • Biochemical markers
    • Phenotyping
  • Diagnostic guidelines
  • Genetic screening
  • Increase in age at diagnosis and delay in diagnosis of alpha-1 antitrypsin deficiency
    • Problems with physician knowledge
  • Difficulty in conducting clinical trials in COPD
  • Declining smoking rates
• CHAPTER 4 TREATMENT OPTIONS
  • Standard COPD therapy
  • Augmentation therapy
    • Therapeutic rationale
    • Market analysis
    • Cost and reimbursement
  • Antibiotic therapy
  • Organ transplant
  • Pulmonary rehabilitation, supplementary oxygen and genetic counseling
• CHAPTER 5 FUTURE TRENDS
  • Inhaled alpha-1 antitrypsin augmentation therapy
    • Arriva/Hyland
    • Kamada
    • Talecris
  • Recombinant alpha-1 antitrypsin augmentation therapy
  • Gamma retinoid agonists
  • Gene therapy is in the far future
  • Alpha-1 antitrypsin replacement therapy in cystic fibrosis
  • Clinical trial endpoints
  • Continuing medical education
  • The role of patient support groups
  • Neonatal genetic screening
  • Transfer of treatments to the general emphysema population
• CHAPTER 6 BIBLIOGRAPHY
  • Articles
  • Websites
  • List of Tables
    • Table 1: Alpha-1 antitrypsin levels in common genotypes
    • Table 2: Estimated prevalence of the five main phenotypes of alpha-1 antitrypsin deficiency in selected countries
    • Table 3: Estimated numbers of each of the five main phenotypes of alpha-1 antitrypsin deficiency in selected countries
    • Table 4: Classification of recommendations for genetic testing
    • Table 5: Comparison of augmentation therapies in the US
  • List of Figures
    • Figure 1: Alpha-1 antitrypsin production and activity
    • Figure 2: An example of three-generation pedigree with alpha-1 antitrypsin deficiency
    • Figure 3: Estimated numbers of PiZZ individuals in selected European countries
    • Figure 4: Liver disease in PiZZ patients by age
    • Figure 5: Association between liver dysfunction and age in PiZZ infants
    • Figure 6: Flow diagram of anticipated liver disease outcomes in PiZZ infants
    • Figure 7: Decline in lung function by smoking status
    • Figure 8: Hospital admissions for alpha-1 antitrypsin deficient patients in Norway, 2005
    • Figure 9: SWOT analysis of human, plasma derived augmentation therapy