Activity of the Alpha-1 Antitrypsin Deficiency Registry in Belgium

Hutsebaut, Jacques; Janssens, Wim; Louis, Renaud; Willersinn, Frank; Stéphenne, Xavier; Sokal, Étienne; Derom, Eric

doi:10.3109/15412555.2015.1021916

Cited by 7 publications

(8 citation statements)

References 6 publications

(2 reference statements)

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“…In a recent survey of 63 experts from 13 countries, the AAT serum level was the second most important criterion to initiate AT, only after AAT genotype [8]. The summary of product characteristics (SmPC) of the available products state that they are indicated for "severe" AATD, without any indication of the definition of severe in terms of serum levels [30,31], and some guidelines suggest a protective threshold of <50 mg•dL −1 [24][25][26]28] or <57 mg•dL −1 [27] or <11 μM [23]. Basically, the concept of AT is to increase serum levels above the protective threshold throughout the whole period between consecutive doses.…”

Section: Current Indications For Atmentioning

confidence: 99%

Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint

Miravitlles,

Anzueto,

Barrecheguren

2023

Eur Respir Rev

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Augmentation therapy with intravenous alpha-1 antitrypsin is the only specific treatment for alpha-1 antitrypsin deficiency (AATD)-associated emphysema. This treatment has been available and remained basically unchanged for more than 35 years, but many questions persist regarding its indications, regimen of administration and efficacy. Because AATD is a rare disease, it has not been possible to conduct randomised, placebo-controlled trials that are adequately powered for the usual outcomes analysed in non-AATD-related COPD, such as lung function decline, exacerbations, symptoms or quality of life. New outcomes such as lung densitometry measured by computed tomography are more sensitive for identifying emphysema progression but are not widely accepted by regulatory agencies. In addition, clinical manifestations, severity and the natural history of lung disease associated with AATD are very heterogeneous, which means that individual prediction of prognosis is challenging. Therefore, the indication for augmentation is sometimes a dilemma between initiating treatment in individuals who may not develop significant lung disease or in whom disease will not progress and delaying it in patients who will otherwise rapidly and irreversibly progress.Other areas of debate are the possible indication for augmentation in patients with severe AATD and respiratory diseases other than emphysema, such as bronchiectasis or asthma, and the use of therapy after lung transplant in AATD patients. All these uncertainties imply that the indication for treatment must be personalised in expert reference centres after in-depth discussion of the pros and cons of augmentation with the patient.

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Section: Current Indications For Atmentioning

confidence: 99%

Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint

Miravitlles,

Anzueto,

Barrecheguren

2023

Eur Respir Rev

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“…10 In recent decades, a number of countries across the EU and worldwide have implemented registries for AATD. 2,[11][12][13][14][15][16][17] They differ widely in their goals, inclusion criteria and follow-up procedures. The development of registries for AATD will a) address many of the gaps in our knowledge of the disorder, b) facilitate understanding of the natural history of AATD, c) promote patient education and dissemination of information, d) facilitate clinical and basic science research of the disease in (and across) countries, and e) foster international collaboration through research initiatives.…”

Section: Principles Of Care 1 the Importance Of Registriesmentioning

confidence: 99%

“…18,19 A good example of these initiatives is Belgium, which joined AIR in 1999, and had set up the first working group in the country, within the Belgian Thoracic Society in 2001, as well as promoted the Belgian AATD registry starting in 2003, when the first Belgian patients were entered into the AIR registry. 13 The working group was tasked with drawing up national guidelines. The achievement of these milestones and the integrated activities of all stakeholders involved in AATD placed this country on the scene thereby enhancing disease management in Belgium.…”

Section: Principles Of Care 1 the Importance Of Registriesmentioning

confidence: 99%

“…In 2015, Hutsebaut et al reported that 55 A1PI deficient subjects had entered the Belgian registry, yielding a prevalence rate of < 1:50 000. 13 Data from AATD registries have provided important insight into the characteristics of the disease and the level of patient care. Some examples are described below.…”

Section: Principles Of Care 1 the Importance Of Registriesmentioning

confidence: 99%

“…However, it should be kept in mind that registry studies may have several limitations, based on their structures. For example, the German registry 20 , unlike others 13,22 , is based on a questionnaire that is distributed to both patients and physicians, a fact that implies decreased data quality in relation to the data collected from clinical trials or provided only by health care professionals. Additionally, patients are recruited through various pathways that do not represent a well-balanced distribution of phenotypes and disease manifestations.…”

Section: The Need For Clinical Researchmentioning

confidence: 99%

See 2 more Smart Citations

Alpha-1 Antitrypsin Deficiency: Principles of Care

et al. 2020

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Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent patients from being seriously affected and having to undergo major medical interventions, such as organ transplantation. Beyond managing the symptoms associated with alpha-1 antitrypsin deficiency, alpha-1 proteinase inhibitor therapy is the only treatment for the condition’s underlying cause. Early diagnosis is important to ensure efficient therapeutic strategies and to minimize further deterioration of lung function. alpha-1 antitrypsin deficiency is under diagnosed globally, partly because the disease has no unique presenting symptoms. This document was prepared by a Portuguese multidisciplinary group and it aims to set out comprehensive principles of care for Alpha-1 antitrypsin deficiency. These include the importance of registries, the need for clinical research, the need for consistent recommendations (regarding diagnosis, treatment and monitoring), the role of reference centres, the requirement for sustained access to treatment, diagnostic and support services, and the role of patient organizations.

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Clinical Diagnosis

Blanco

2017

Blanco's Overview of Alpha-1 Antitrypsin Deficiency

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Activity of the Alpha-1 Antitrypsin Deficiency Registry in Belgium

Cited by 7 publications

References 6 publications

Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint

Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint

Alpha-1 Antitrypsin Deficiency: Principles of Care

Clinical Diagnosis

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