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.
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.
ABOUT DATAMONITOR HEALTHCARE 2
About the Respiratory & Infectious Disease (RID) analysis team 2
CHAPTER 1 EXECUTIVE SUMMARY 3
Scope of the analysis 3
Datamonitor insight into the disease market 4
Related reports 4
CHAPTER 2 DISEASE BACKGROUND 6
Alpha-1 antitrypsin deficiency is a hereditary disease found mainly in Caucasians 6
Etiology of alpha-1 antitrypsin deficiency 6
Genetics of Alpha-1 antitrypsin deficiency 8
Epidemiology 10
Emphysema 12
Liver disease 14
Unmet needs 17
Risk factors 17
Smoking 18
Environmental tobacco smoke exposure 19
Occupational exposure 19
Bacterial infections 20
Body mass index 20
CHAPTER 3 DIAGNOSIS 21
Diagnosis of alpha-1 antitrypsin deficiency 21
Lung function 21
Imaging 21
Serum alpha-1 antitrypsin levels 22
Biochemical markers 22
Phenotyping 22
Diagnostic guidelines 22
Genetic screening 23
Increase in age at diagnosis and delay in diagnosis of alpha-1 antitrypsin deficiency 25
Problems with physician knowledge 27
Difficulty in conducting clinical trials in COPD 27
Declining smoking rates 28
CHAPTER 4 TREATMENT OPTIONS 29
Standard COPD therapy 29
Augmentation therapy 29
Therapeutic rationale 29
Market analysis 32
Cost and reimbursement 33
Antibiotic therapy 34
Organ transplant 34
Pulmonary rehabilitation, supplementary oxygen and genetic counseling 35
CHAPTER 5 FUTURE TRENDS 36
Inhaled alpha-1 antitrypsin augmentation therapy 36
Arriva/Hyland 37
Kamada 37
Talecris 37
Recombinant alpha-1 antitrypsin augmentation therapy 37
Gamma retinoid agonists 38
Gene therapy is in the far future 38
Alpha-1 antitrypsin replacement therapy in cystic fibrosis 38
Clinical trial endpoints 39
Continuing medical education 39
The role of patient support groups 40
Neonatal genetic screening 42
Transfer of treatments to the general emphysema population 43
CHAPTER 6 BIBLIOGRAPHY 44
Articles 44
Websites 49
List of Tables
Table 1: Alpha-1 antitrypsin levels in common genotypes 9
Table 2: Estimated prevalence of the five main phenotypes of alpha-1 antitrypsin deficiency in selected countries 11
Table 3: Estimated numbers of each of the five main phenotypes of alpha-1 antitrypsin deficiency in selected countries 12
Table 4: Classification of recommendations for genetic testing 24
Table 5: Comparison of augmentation therapies in the US 30
List of Figures
Figure 1: Alpha-1 antitrypsin production and activity 8
Figure 2: An example of three-generation pedigree with alpha-1 antitrypsin deficiency 10
Figure 3: Estimated numbers of PiZZ individuals in selected European countries 13
Figure 4: Liver disease in PiZZ patients by age 15
Figure 5: Association between liver dysfunction and age in PiZZ infants 16
Figure 6: Flow diagram of anticipated liver disease outcomes in PiZZ infants 17
Figure 7: Decline in lung function by smoking status 19
Figure 8: Hospital admissions for alpha-1 antitrypsin deficient patients in Norway, 2005 26
Figure 9: SWOT analysis of human, plasma derived augmentation therapy 33
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Stakeholder Opinions: Idiopathic Pulmonary Fibrosis - A New Hope
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