Figures
- FIGURE 1
Development of surveys for healthcare providers (HCPs) and patients and caregivers by the European Alpha-1 Research Collaboration (EARCO) survey working group. ERS: European Respiratory Society; ELF: European Lung Foundation.
- FIGURE 2
Most challenging aspects to manage for patients. The scale used is 1=very difficult, 2=difficult, 3=not very difficult, 4=not an issue.
- FIGURE 3
Most challenging aspects/barriers for treatment. The scale used is 1=very difficult, 2=difficult, 3=not very difficult, 4=not an issue.
Tables
- TABLE 1
Research priorities identified by the European Respiratory Society task force on pulmonary disease in AATD [2]
Biomarkers of emphysema progression in AATD
Biomarkers of response to augmentation therapy
Research on the minimum clinically important difference in rate of decline in lung density
Personalised augmentation therapy, with individualised selection of therapeutic regimen according to the patient needs
Development of genetic and regenerative therapies
Other types of treatment, e.g. biochemical inhibitors of neutrophil proteinases
Development of specific patient-reported outcomes for patients with emphysema associated with AATD
Efficacy of augmentation therapy after lung transplant in AATD patients
AATD: α1-antitrypsin deficiency.
- TABLE 2
Most-rated research questions by respiratory specialists
Research question Score# What are the causes of fast progression and poor outcome in patients with AATD? 4.60 How can we improve early and accurate diagnosis in AATD? 4.52 When should augmentation therapy be initiated? 4.51 Are self-management interventions effective in AATD patients? 4.49 What is the optimal dose regimen (dose and frequency of administration) of augmentation therapy? 4.38 What is the clinically valid definition of a fast decliner, what is the advisable observation period? 4.33 How should the severity of an exacerbation, in AATD patients, be assessed and what is its impact on long-term outcomes? 4.31 How can awareness of AATD, among physicians, be improved? 4.27 What is the prevalence of emphysema among never-smokers PiZZ? 4.27 What is the impact that the delay of diagnosis has in the prognosis of the disease? 4.25 What are the risk factors, other than cigarette smoking, for the development of lung disease in AATD? 4.25 How can delay in diagnosis be reduced? 4.24 Does an early referral to a specialist in AATD change outcome in patients? 4.24 Which are the best lung function tests for the follow-up of pulmonary disease in AATD patients? 4.23 What is the relation between bronchiectasis and AATD? 4.20 What is the most appropriate AAT blood concentration to consider severe and intermediate AATD? 4.19 Could augmentation therapy be effective in other phenotypes/genotypes with low levels such as SZ? 4.19 Should the laboratory diagnosis algorithm be standardised in Europe? 4.18 What is the therapeutic efficacy of aerosol AAT preparation? 4.18 What is the role of augmentation therapy for reduction of exacerbations frequency and severity? 4.17 AATD: α1-antitrypsin deficiency; AAT: α1-antitrypsin. #: scores range from 1=unimportant to 5=very important; answers are ranked by mean score.
- TABLE 3
Patients’ demographics and clinical characteristics
Variable From non-reimbursed countries From reimbursed countries Total Participants n 124 239 438# Patient 107 (86) 194 (81) 368 (84) Parent, relative or caregiver 17 (14) 45 (19) 70 (16) Age years 54 52 50 Female sex 78 (63) 132 (55) 254 (58) Smoking Active 4 (3) 5 (2) 9 (2) Former 78 (66) 126 (56) 272 (62) Alcohol 69 (58) 113 (51) 241 (55) Environmental exposure 36 (30) 69 (31) 127 (29) Lung transplant recipient 1 (1) 3 (1) 18 (4) Liver transplant recipient 2 (2) 3 (1) 5 (1) Diagnosis made by Pulmonologist 56 (47) 125 (58) 245 (56) GP 38 (32) 29 (14) 79 (18) Gastro/hepatologist 7 (6) 19 (9) 31 (7) Paediatrician 5 (4) 14 (7) 26 (6) Other 13 (11) 27 (12) 61 (14) Reason for diagnosis COPD 31 (26) 68 (30) 140 (32) Family testing 25 (21) 45 (20) 74 (17) Asthma 14 (12) 19 (8) 39 (9) Liver disease 7 (6) 19 (8) 26 (6) Panniculitis 2 (2) 5 (2) 4 (1) Other 41 (33) 76 (32) 153 (35) AATD phenotype ZZ 75 (63) 161 (72) 306 (70) SZ 16 (13) 19 (8) 39 (9) MZ 7 (6) 31 (13) 44 (10) MS 2 (2) 2 (1) 4 (1) Unknown 16 (13) 2 (1) 26 (6) Other 4 (3) 12 (5) 18 (4) Time since diagnosis years 10 11 12 Data are presented as n (%) or mean, unless otherwise indicated. GP: general practitioner; COPD: chronic obstructive pulmonary disease; AATD: α1-antitrypsin deficiency. #: there were 75 participants from countries with partial reimbursement who were not included in either of the two subgroups.
- TABLE 4
Most important research areas as rated by patients and caregivers
Research area Total Non-reimbursed countries Reimbursed countries Improving knowledge of AATD, in particular among general practitioners 99 99 99 Access to AATD specialised centres 97 99 96 Access to reliable, easy to understand information about living with AATD 97 99 96 Being able to recognise an exacerbation 97 98 97 Targeted screening programmes: COPD and asthma patients 96 94 99 Having an action plan for exacerbations and easy access to healthcare during episodes 96 99 95 A personalised integrated care plan including therapeutic physical activity 95 91 98 Education for physicians on diagnostic techniques, algorithm, interpretation of results 95 95 97 Regular communication between healthcare professional team and AATD patient 94 94 97 Having access to pulmonary rehabilitation and being taught the techniques and how to use the equipment at home 93 95 93 Diagnosis in liver disease patients (children and adults) 93 92 95 Educational programmes regarding regional/national resources to diagnose and refer AATD patients 93 96 95 Smoking cessation 93 88 96 Develop better ways of teaching people to use their medicines e.g. inhalers, oxygen 92 90 94 Diagnosis of non-respiratory diseases associated with AATD 91 90 95 Develop other aspects of integral care (e.g. physical activity, caregiver support, maintaining work or schooling, nutrition, psychological care, sex life, daily life) 91 85 94 Role of pulmonary rehabilitation 91 89 95 Availability of organ (lung and/or liver) donation 90 91 92 Role of nutrition 90 91 93 Use of vaccines to prevent exacerbations 90 93 90 Relationship between AATD and other diseases 90 94 89 More evidence on effectiveness of augmentation therapy 90 94 92 Different evolution of the disease among patients 89 91 91 Synthetic AAT production to cover the demand 89 91 88 Evidence on the effect of augmentation therapy on reducing exacerbations 89 92 90 Development of an international AATD registry 89 91 89 Alternatives to IV augmentation therapy (e.g. inhaled augmentation therapy) 89 89 94 Data are presented as the % of participants that considered each item to be important or very important. AATD: α1-antitrypsin deficiency; COPD: chronic obstructive pulmonary disease; AAT: α1-antitrypsin; IV: intravenous.
Supplementary Material
Please note: supplementary material is not edited by the Editorial Office, and is uploaded as it has been supplied by the author.
Supplementary material S1 00523-2020.supplement_S1
Supplementary material S2 00523-2020.supplement_S2
Supplementary material S3 00523-2020.supplement_S3
Supplementary material S4 00523-2020.supplement_S4
Supplementary material S5 00523-2020.supplement_S5
