Active clinical trials for "Alpha 1-Antitrypsin Deficiency"

This is a multiple dose, randomized, placebo-controlled, double-blind study of belcesiran to evaluate the safety, tolerability, PK, and PD in adult patients with PiZZ AATD-associated liver disease (AATLD). The study will be conducted in 3 separate cohorts. A total of up to 16 participants may be enrolled in Cohort 1 and 2. A total number of 30 subjects will be enrolled in cohort 3. The 3 cohorts are differentiated by the duration of the treatment period, the number of doses administered, and the timing of the second liver biopsy.

The purpose of AROAAT2001 (SEQUOIA) is to evaluate the safety, efficacy and tolerability of multiple doses of the investigational product, Fazirsiran Injection, administered subcutaneously to participants with alpha-1 antitrypsin deficiency (AATD).

The purpose of this study is to evaluate the the safety and efficacy of the investigational product, fazirsiran (TAK-999, ARO-AAT), administered subcutaneously to patients with Alpha-1 Antitrypsin Deficiency.

This is a Phase 2, multicenter, double-blind, randomized (1:1), placebo-controlled, 12-week, proof-of-concept study to evaluate the safety and tolerability as well as the mechanistic effect of oral administration of alvelestat (MPH966) in subjects with confirmed AATD defined as Pi*ZZ, Pi*SZ, Pi*null, or another rare phenotype/genotype known to be associated with either low (serum AAT level <11 μM or <57.2 mg/dL) or functionally impaired AAT including "F" or "I" mutations.

This is a multi-center, randomized, placebo-controlled, double blind clinical study to assess the efficacy and safety of two separate dose regimens of Alpha-1 MP versus placebo for 156 weeks (i.e., 3 years) using computed tomography (CT) of the lungs as the main measure of efficacy. The two Alpha-1 MP doses to be tested are 60 mg/kg and 120 mg/kg administered weekly by IV infusion for 156 weeks. The study consists of an optional pre-screening phase, Screening Phase, a 156-week Treatment Phase, and an End of Study Visit at Week 160.

The Sponsor is developing KB408, a replication-defective, non-integrating herpes simplex virus type 1 (HSV-1)-derived vector engineered to deliver functional full-length human SERPINA1 to the airways of people with alpha-1 antitrypsin deficiency (AATD) via nebulization. This study is designed to evaluate safety and pharmacodynamics of KB408 in adults with AATD with a PI*ZZ genotype. Three planned dose levels of KB408 will be evaluated in single dose escalation cohorts. Subjects taking intravenous AAT augmentation therapy are not required to wash out from IV AAT in the low and mid dose cohorts. At the high dose, two cohorts will be conducted in parallel to evaluate patients on and off IV augmentation therapy.

Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. The purpose of this study is to examine the density of the lung as measured by chest computed tomography (CT) and determine if existing emphysema predicts changes in the rate of subsequent emphysema or changes in CT, serum or plasma biomarkers of interest. The overarching goal is to develop biomarkers that can be used in interventional trials since lung function changes do not typically inform disease progression in AATD.

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

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.