Active clinical trials for "Alpha 1-Antitrypsin Deficiency"

The goal of this cross-sectional observational study is to estimate the prevalence of lung function impairment as measured by spirometry in a population of Gambian women aged 15 and older. The main question[s] it aims to answer are: What is the prevalence of lung function impairment in Gambian women What is the prevalence of eosinophilic inflammation in Gambian women Consenting participants will undergo Spirometry Fractional exhaled nitric oxide (FENO) testing α1-antitrypsin testing in patients with lung function impairment as assessed by spirometry

The aim of this study is to test whether aspirin improves endothelial function in alpha-1 antitrypsin deficiency-associated lung disease, measured by pulmonary microvascular blood flow on magnetic resonance imaging (MRI) and with apoptotic endothelial microparticles.

Protocol Summary STUDY DESIGN A pilot, prospective, double blind, randomized, placebo controlled study. STUDY POPULATION Patients assigned to elective CABG with cardiopulmonary bypass (CPB) at the Department of Cardiothoracic Surgery, Soroka University Medical Center. OBJECTIVE To evaluate anti-inflammatory effects, effects on organ function preservation, and postoperative blood loss reduction following AAT-1 administration in patients undergoing CABG with CPB. PRIMARY ENDPOINT Postoperative organ function preservation and blood loss following preoperative single-dose AAT-1 administration. SAMPLE SIZE CONSIDERATIONS A cohort of 20 patients will be recruited. Patients will be randomized to receive either AAT-1 or placebo prior to surgery. Whereas this is a proof of concept pilot study, statistical significance is not the primary objective. INCLUSION CRITERIA 1. The study population will comprise patients between 40 and 70 years of age, irrespective of gender, at low or intermediate operative risk (calculated Logistic Euroscore stratification of 5% or less), assigned to elective CABG with CPB. Recruitment depending on patients informed consent. EXCLUSION CRITERIA Co-existing conditions including: Coagulation abnormalities Severe pulmonary disease defined by blood oxygen saturation of 90% or less or FEV1 of less than 60% of predicted. Renal dysfunction defined be serum creatinine levels higher or equal to 1.8 mg%, Abnormal liver function tests Uncontrolled diabetes mellitus, Severe peripheral vascular disease Prior cerebrovascular neurological event. Abnormal left or right ventricular function. Treatment with warfarin or thienopyridine class of anti platelet agents.

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.

Bone marrow transplant (BMT) patients can develop graft-versus-host disease (GVHD), a serious and potentially fatal complication. The researchers have developed a blood test to identify patients most at risk for developing severe GVHD. Patients who consent to this study will have their blood tested up to two times after BMT to determine if they are at high risk for severe GVHD. The tests will be performed one week and two weeks after BMT. Patients who are high risk will be treated with a drug called alpha-1-antitrypsin (AAT) to see if it prevents the development of severe GVHD. Patients will receive 16 doses of AAT through a catheter placed into a blood vessel over eight weeks. AAT will be given either in the hospital or the outpatient clinic two times per week. Patients will be followed for the development of severe GVHD for up to four months from the BMT and will continue to be followed at routine clinic visits for up to one year after BMT.

The deficiency of alpha-1 antitrypsin (DA1AT) is a genetic disorder of variable clinical expression, initially described in adults with pulmonary emphysema patients. In children, it is the second cause of neonatal cholestasis after biliary atresia and is a common indication for liver transplantation. Several genotypes for SERPINA1 gene coding for alpha-1 anti-trypsin were identified. The main ones are M / M, M / Z, M / S and Z / Z and each genotype is closely correlated with the concentration of blood A1AT. The estimate for France suggests a prevalence of genotype deficit Z / Z of the order of 1/6054, (9982 patients), which in 11% of cases, have liver disease (prolonged neonatal jaundice). Half of them will move towards the development of cirrhosis with portal hypertension, at worst liver transplantation. Currently, we do not know what are the clinical and genetic factors that predispose a patient A1AT deficiency develop liver damage. Recent studies have led us to think that polymorphisms in the gene SERPINA1, as well as that of the alpha-mannosidase 1 endoplasmic reticulum (Erman gene) could be a predictive marker of liver complications. Another possible candidate gene is one of the importin beta (KPNB1), a protein involved in the elimination of misfolded proteins. These data lead us to propose the study of genetic polymorphisms. The main objective of the study is to compare the allele frequencies of these polymorphisms between (i) a cohort of A1AT deficient patients and with hepatic symptoms (portal hypertension and its complications, severe liver failure leading to transplant or not, or an indication for liver transplantation) and (ii) a cohort of A1AT deficient patients without signs of hepatic call. To build this last cohort, we will include in the genetic study the family members of deficient patients, some of whom probably carrying a deficit genotype Z / Z but without any associated clinical manifestations. This will allow us to facilitate the establishment of genotype profiles / phenotype clearly identified, which then allow a more appropriate care for children who may have such a development, we will strive to achieve a haplotype interpretation of polymorphisms found. This study will be conducted in association with the DEFI-ALPHA study to identify clinical and biological prognostic factors such as age at diagnosis, the diagnostic mode, the results of liver biopsy (when available), the clinical course, family history, the existence of IUGR and long-term treatment. The secondary objectives of the study are : The measurement and interpretation of serum IL-8 in A1AT-deficient patients. Indeed, one study showed a higher IL-8 in patients with ulcerative colitis compared with healthy patients' serum. These considerations led us to hypothesize that IL-8 may be a marker of liver disease in A1AT deficiency. Preservation of blood samples for further study of other genes, which may be in the future suspected to be associated with the occurrence of liver complications. To this end, a DNA bank will be created. It will involve the children with a deficiency of alpha-1 antitrypsin and their family of 1st and 2nd degree in civil law (parents and siblings). This study is a continuation of the cohort DEFI-ALPHA (descriptive study of a cohort of children with DA1AT) and sought to identify the clinical and biological factors such as age at diagnosis, diagnosis mode, the result sets of the liver biopsy (when available), clinical course, family history, the presence of IUGR and long-term treatment. The only criterion for not-inclusion is, according to the subject, the lack of consent of the child and his parents, the lack of consent of the adult patient, or the lack of consent of the witness. Demographic and clinical history data (for parents and brothers/sisters showing no DA1AT) will be collected. Currently, the cohort of patients with DA1AT is being set up in the framework of the "Cohort DEFI-ALPHA." This multicenter project is realized with the help of french pediatric hepatology centers that regularly follow patients DA1AT. Today, over 100 patients DA1AT have already been identified, and the collection of historical data has already begun on several centers since September 2009. This study is therefore a continuation of this work. Over a period of 30 months, the total number of potentially includable subjects is estimated at about 400 in this study (100 patients and 300 related to the first degree such as parents, brothers and sisters). This study will be promoted by the Hospices Civils de Lyon. Authorization of the competent authority and the ethical committee will be obtained as well as informed consent from families before blood sampling.

This is a Phase 2, multicenter, open-label extension of Study DCR-A1AT-201, designed to evaluate the long-term safety and further characterize the pharmacodynamics (PD) of belcesiran in adult patients with PiZZ AATLD.

This is a longitudinal, observational, non-interventional registry study, designed to collect both retrospective and prospective real world data, on patients receiving Alpha-1 augmentation therapy in the home through Coram Specialty Infusion.The data will be collected from standard Coram homecare forms, as well as patient reported case forms.

This project is designed to examine the interaction between the microflora in the lower airway and the concentration of a serum protein called alpha-1 antitrypsin. The hypothesis is that alpha-1 antitrypsin impacts the diversity and content of the lower airway microflora, resulting in a less inflammatory airway. The Specific Aims are: To compare the lower respiratory tract microbiome and virome population diversity and content in age and GOLD stage matched PiZZ individuals not receiving augmentation therapy, PiZZ individuals on augmentation therapy, PiMZ individuals not receiving augmentation therapy, and PiMM individuals with chronic obstructive pulmonary disease (COPD). Determine correlations between bronchoalveolar lavage (BAL) and peripheral blood gene expression patterns and patterns in lung microbial and viral populations across all cohorts. Correlate the presence or absence of computed tomography (CT) bronchiectasis and bronchiolectasis with patterns in the microbiome population diversity and content. To identify and define novel molecular phenotypes of Alpha-1 Antitrypsin Deficiency (AATD) based on computational integration of clinical, transcriptomic, and microbiome data.

The purpose of this study is to collect safety data on ALFALASTIN® infusions performed at home or in out-of hospital locations.