Active clinical trials for "Alpha 1-Antitrypsin Deficiency"

European Alpha-1 Research Collaboration (EARCO) is a pan-European network committed to promoting clinical research and education in alpha-1 antitrypsin deficiency (AATD). The core project is the pan-European AATD Registry, a collaboration which will offer longitudinal real-world data for patients with AATD. EARCO has a global vision to increase the early diagnosis of alpha-1 antitrypsin deficiency (AATD), understand better the natural history of the disease and ensure optimal access to effective care, placing emphasis on ambitions that serve collective needs of the AATD research community and bringing people with AAT deficiency to the centre of the research environment in a real-world context. The study population will consist of individuals with diagnosed severe alpha-1 antitrypsin deficiency regardless of the clinical expression and severity. The study objectives are: To generate long-term, high-quality clinical data covering a pan-European population of AATD individuals in all age groups and all stages of disease severity. To understand the natural history and prognosis of AATD better with the goal to create and validate prognostic tools to support medical decision making. To investigate the effect of augmentation therapy on the progression of emphysema and to examine its impact on clinical and functional outcomes, such as FEV1, quality of life and mortality in a "real-life" population To learn more about the course of the disease in patients suffering from severe AATD with genotypes different from Pi*ZZ We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC and continue a long term follow-up. We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC and continue a long term follow-up. .

According to the Respreeza® Summary of Product Characteristics, the initial infusions must be administered under the supervision of a health professional experienced in the treatment of alpha-1 antitrypsin deficiency, although subsequent infusions may be administered at home by the person responsible for care or by the patient. Clinical data on self-administration of Respreeza® are however limited and the grounds for self-administration are left to the assessment of the attending physician, who needs to ensure that appropriate training is delivered. In this context, CSL Behring would like to run a clinical study in order to assess the effectiveness of a home self-administration learning program in terms of switching to self-administration, and the long term maintenance of this administration.

Phase 2 open label extension study to evaluate INBRX-101 in adults with AATD emphysema

Alpha-1-antitrypsin deficiency is the most common congenital disease of the respiratory system, leading to early pulmonary emphysema or bronchiectasis. Pulmonary involvement significantly accelerates active cigarette smoking. Patients with alpha-1-antitrypsin deficiency may also have liver cirrhosis, vasculitis, skin or intestinal disorders. The AATD Registry is a non-interventional multicenter retrospective prospective longitudinal follow-up of patients with alpha-1-antitrypsin deficiency. The aim of the AATD National Registry is to collect and analyze clinical data in patients with alpha-1 antitrypsin deficiency.

This study aims to use novel proton-based MRI techniques to assess lung function and structure in healthy volunteers and patients with chronic obstructive pulmonary disease (COPD) and alpha-1-anti-trypsin deficiency (A1ATD). These novel MRI measures will be compared to matched contemporary clinical diagnostic tools, namely pulmonary function tests (PFTs) and computed tomography (CT) scans. MRI has the advantages of avoiding ionising radiation exposure (unlike CT scans) and can also provide regional measures of lung function (unlike PFTs which provide global measures of function). In addition, these MRI techniques do not require the use of any inhaled or injected contrast agents. Some patients enrolled in this study will be undergoing a lung volume reduction (LVR) procedure as part of their normal clinical care. LVR is an intervention for patients with severe lung disease and hyperinflation. It is a palliative therapy that helps to reduce lung hyperinflation through insertion of small valves in the airway or surgical removal of parts of the lung. This can lead to improvements in symptoms such as breathlessness and improve exercise tolerance due to better functioning of the lung. In this study, we will explore how lung MRI measures can be used to assess patients before and after an LVR intervention. This study will take place at the University of Nottingham in collaboration with Nottingham University Hospitals NHS Trust. The study will last for 3 years and participants will be asked to attend a screening visit (lasting up to 1 hour) and either one or two study visits (each lasting up to 3 hours).

The purpose of this study is to look at how Alpha-1-antitrypsin (AAT) deficiency and Cystic Fibrosis (CF) affect white blood cells in the lungs, called macrophages, and their ability to work.

Cholestasis is a condition in which bile is not properly transported from the liver to the small intestine. Cholestasis can be caused by an array of childhood diseases, including the genetic diseases Alagille syndrome (ALGS), alpha-1 antitrypsin (a-1AT) deficiency, bile acid synthesis and metabolism defects, and progressive familial intrahepatic cholestasis (PFIC) or benign recurrent intrahepatic cholestasis(BRIC). This study will investigate the natural history and progression of the four previously mentioned cholestatic liver diseases to provide a better understanding of the causes and effects of the diseases.

This is a research study to test an experimental study drug (belcesiran, also known as DCR-A1AT). This drug is being tested to see if it helps people with a rare condition known as Alpha-1 Antitrypsin Deficiency, or A1ATD. Prior to initiation of this study belcesiran had not yet been tested in humans. All study participants will be randomly assigned to either receive the study drug or a placebo. This will allow for the sponsor to compare the effects of the study drug with that of the placebo. A placebo looks like the study drug but does not contain any of the study drug. The main purpose of the first part of the study is to evaluate the safety profile of the study drug in people who do not have A1ATD. This part of the study will also help find the dose of the study drug that has an acceptable safety profile for testing.

The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.

The Alpha-1 Research Registry is a confidential database made up of individuals diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) and individuals identified as Alpha-1 carriers. The Registry was established to facilitate research initiatives and promote the development of improved treatments and a cure for Alpha-1.