View clinical trials related to Alpha 1-Antitrypsin Deficiency.
Filter by: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. .
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.
This will be a prospective study examining serum levels of MMP-13 and alpha-1 antitrypsin as well as other biomarkers as well as urine biomarkers of smoking status and collagen degradation in the COPD patient population. Serum and urine biomarkers at baseline and after COPD exacerbations will be assessed against change in lung function as measured by pulmonary function testing.
This study is a Phase 2/3 prospective, double-blind, randomized, multi-center, placebo-controlled study for prevention of acute GVHD (aGVHD) in subjects undergoing an allogeneic hematopoietic cell transplant (HCT).
Pulmonary rehabilitation (PR) including exercise training is highly effective by improving health-related quality of life, exercise capacity and symptoms in patients with chronic obstructive pulmonary disease (COPD). Therefore, PR is a main component in the management of COPD. In a former study patients with Alpha-1 Antitrypsin deficiency (A1ATD)-related COPD (genotype PiZZ) have been found to show smaller improvements in exercise capacity after a 3-week inpatient PR program compared to COPD patients without A1ATD (genotype PiMM)[1]. These between-group differences were mirrored by missing adaptations of the fatigue-resistant skeletal muscle fibre type I in A1ATD patients. This was in contrast to COPD patients without A1ATD who increased the proportion of this fibre type after PR. Myofibre type I is crucial because it enables patients for physical endurance activities (walking, cycling etc.) during their daily life. The aim of this study is to compare the effects of an exercise Training program with high vs. moderate Training intensity in order to find a Training modality which improves Training effects in A1ATD patients.
This is a single centre exploratory study that aims to apply hyperpolarized xenon-129 (129Xe) magnetic resonance imaging (MRI) methods and measurements in individual patients with and without lung disease to better understand lung structure and function and evaluate response to therapy delivered as a part of clinical care.
Background: Elastin is a unique protein providing elasticity, resilience and deformability to dynamic tissues, such as lungs and vasculature. Elastin fibers are characterized by their high affinity for calcium. However, calcified elastin is more prone to the degrading effects of proteases and, in turn, partially degraded elastin has an even higher affinity for calcium. A disturbed balance between proteases and anti-proteases is a major underlying mechanism in the development of chronic obstructive pulmonary disease (COPD). Virtually the only protein that can protect elastin from calcification is matrix Gla-protein (MGP), which needs vitamin K for its activation. In COPD patients, a lower vitamin K status is found when compared to control subjects and an inverse association exists between vitamin K status and elastin degradation. In addition, vitamin K status is lower and elastin degradation is accelerated in Vitamin K antagonist (VKA) users. VKAs are widely used. Nowadays, an increasing number of patients uses direct oral anticoagulants (DOACs), which do not influence vitamin K status. The hypothesis of this study is that discontinuation of VKAs results in an improved vitamin K status and deceleration of elastin degradation. In order to test this hypothesis, an observational pilot study will be conducted in which the change in elastin degradation- quantified by plasma desmosine concentrations - in patients who discontinue use of VKAs will be used as primary endpoint. Study design: Observational study. Study population: A total of 30 VKA users who will discontinue the use of VKAs. Elastin degradation rate (quantified by plasma desmosine levels) and vitamin K status (quantified by measuring plasma levels of dephosphorylated uncarboxylated (dp-uc)MGP) will be measured during the use of VKAs and approximately 6 months after discontinuation of VKAs. Furthermore, the VKORC1 polymorphisms will be determined. Main study parameters: The primary endpoint is the change in the rate of elastin degradation quantified by the plasma desmosine assay. Secondary endpoints are the change in vitamin K status quantified by measuring plasma levels of dp-ucMGP, the relation between desmosine and dp-ucMGP and differences of desmosine and dp-ucMGP levels among subjects with different polymorphisms of the vitamin K 2,3-epoxide reductase complex 1 (VKORC1) gene.
Alpha1-antitrypsin deficiency (AATD) is the third most common genetic disorder leading to death worldwide. Apart from lung disease, AATD also leads to liver involvement in up to 50% of patients. Hence, liver involvement is the second most common cause of morbidity and mortality in AATD patients. But the natural history of disease in adults is not well understood and specific therapies are still in the phase of preclinical studies. Despite these facts and the therapeutic and preventative potential, the AATD-related liver disease is still largely being neglected by both the patients and the healthcare professionals. To improve the hepatologic care of patients with AATD, the investigators initiated a prospective multi-center study in Europe that systematically evaluates the liver function in these patients and their relatives. The investigators cooperate with both patient organizations as well as with lung centers specialized on AATD-related lung disease.
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.
The aim of this study is to describe the natural history of patients with alpha-1 antitrypsin associated emphysema and to figure out associated prognostic factors.