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About 743 results

ALLMedicine™ Alpha-1 Antitrypsin Deficiency Center

Research & Reviews  246 results

Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin def...
https://doi.org/10.1080/17476348.2022.2027755
Expert Review of Respiratory Medicine; Ghosh AJ, Hobbs BD

Jan 14th, 2022 - Alpha-1 antitrypsin deficiency occurs in individuals with deleterious genetic mutations on both chromosomes (maternal and paternal) in SERPINA1, the gene encoding the alpha-1 antitrypsin protein. There has been substantial progress in understandin...

Opinions and Attitudes of Pulmonologists About Augmentation Therapy in Patients with Al...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8743984
International Journal of Chronic Obstructive Pulmonary Di... Greulich T, Albert A et. al.

Jan 14th, 2022 - Augmentation therapy (AT) is the only specific treatment licensed for patients with alpha-1 antitrypsin deficiency (AATD) associated lung disease. Since patients with severe AATD may have a very different prognosis and AT requires intravenous infu...

An Extension Study of Belcesiran in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATLD)
https://clinicaltrials.gov/ct2/show/NCT05146882

Dec 29th, 2021 - 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.

The need for continuous quality assessment for providing optimal comprehensive care for...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8654386
Allergy and Asthma Proceedings; Ptasinski A, Colello J et. al.

Dec 7th, 2021 - Background: Alpha-1-antitrypsin deficiency (AATD) is an orphan disease that mainly affecting the liver and the lung. This creates difficulties to ensure that comprehensive care is administered to both organ systems. Past assessments of care delive...

Alpha-1 antitrypsin deficiency: a re-surfacing adult liver disorder.
https://doi.org/10.1016/j.jhep.2021.11.022
Journal of Hepatology; Fromme M, Schneider CV et. al.

Dec 2nd, 2021 - Alpha-1 antitrypsin deficiency (AATD) arises from mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT) that lead to AAT retention in the endoplasmic reticulum of hepatocytes, causing proteotoxic liver injury and loss-of-function lung ...

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Guidelines  3 results

Non-invasive diagnosis and follow-up of rare genetic liver diseases.
https://doi.org/10.1016/j.clinre.2021.101768
Clinics and Research in Hepatology and Gastroenterology; Sobesky R, Guillaud O et. al.

Aug 1st, 2021 - Rare genetic liver diseases can result in multi-systemic damage, which may compromise the patient's prognosis. Wilson's disease and alpha-1 antitrypsin deficiency must be investigated in any patient with unexplained liver disease. Cystic fibrosis ...

ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries.
https://doi.org/10.1038/ajg.2016.517
The American Journal of Gastroenterology; Kwo PY, Cohen SM et. al.

Dec 21st, 2016 - Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests sh...

Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Th...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3373286
Canadian Respiratory Journal; Marciniuk DD, Hernandez P et. al.

Apr 27th, 2012 - Alpha-1 antitrypsin (A1AT) functions primarily to inhibit neutrophil elastase, and deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD). Severe A1AT deficiency occurs in one in 5000 to one in 5500 o...

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Clinicaltrials.gov  12 results

An Extension Study of Belcesiran in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATLD)
https://clinicaltrials.gov/ct2/show/NCT05146882

Dec 29th, 2021 - 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.

Respreeza® Self-administration and Learning Program (AmAREtTI Study)
https://clinicaltrials.gov/ct2/show/NCT04262284

Nov 3rd, 2021 - 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...

Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency
https://clinicaltrials.gov/ct2/show/NCT01379469

Oct 12th, 2021 - The primary objective is to determine if Carbamazepine therapy in patients with severe liver disease due to Alpha-1-Antitrypsin Deficiency leads to a significant reduction in the hepatic accumulation of ATZ. The other objectives are: To determine ...

Longitudinal Study of Mitochondrial Hepatopathies
https://clinicaltrials.gov/ct2/show/NCT01148550

Apr 22nd, 2021 - This study will be conducted as part of the NIH-supported Childhood Liver Disease Research and Education Network (ChiLDREN). ChiLDREN is investigating rare cholestatic liver diseases of childhood: alpha-1 antitrypsin deficiency (A1AT), Alagille's ...

Alpha-1 Coded Testing(ACT) Study
https://clinicaltrials.gov/ct2/show/NCT00500123

Feb 15th, 2021 - Genetic testing for alpha-1 antitrypsin deficiency is sometimes delayed despite established testing indications. All genetic tests have risks and possible benefits. The ACT study evaluates the population demographics, reasons for testing, and outc...

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News  33 results

Deja Vu All Over Again; Delay of Game: NFL Vaccine Pushback; Third FDA Advisor Quits
https://www.medpagetoday.com/infectiousdisease/covid19/93049

Jun 11th, 2021 - Note that some links may require registration or subscription. Here we go again. As cruise lines struggle to recover from COVID-19, two passengers aboard a Royal Caribbean ship tested positive for coronavirus; all crew and passengers over 16 were ...

Point Mutation May Help Explain Different National COVID-19 Death Rates
https://www.medscape.com/viewarticle/938411

Oct 2nd, 2020 - NEW YORK (Reuters Health) - Ethnic differences in the frequencies of alpha-1 antitrypsin deficiency alleles might contribute to national differences in COVID-19 fatality rates, researchers report. "It was interesting to see how one point mutation ...

Point Mutation May Help Explain Different National COVID-19 Death Rates
https://www.staging.medscape.com/viewarticle/938411

Oct 2nd, 2020 - NEW YORK (Reuters Health) - Ethnic differences in the frequencies of alpha-1 antitrypsin deficiency alleles might contribute to national differences in COVID-19 fatality rates, researchers report. "It was interesting to see how one point mutation ...

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management
https://reference.medscape.com/viewarticle/936001_3

Sep 18th, 2020 - Answer 2/5 Which of the following conditions presents in a similar way to AADC deficiency? Your peers chose: Gaucher disease 0% Mucopolysaccharidosis 0% Alpha-1 antitrypsin deficiency 0% Tetrahydrobiopterin (BH4) deficiency 0% BH4 deficiency prese...

AATD Liver Disease Differs in Kids, Adults
https://www.medpagetoday.com/gastroenterology/generalhepatology/71318

Feb 22nd, 2018 - Action Points Clinical factors associated with the course of liver disease differed among children and adults with alpha-1 antitrypsin deficiency (AATD), according to a systematic review of the literature, where heterogeneity among studies preclud...

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Patient Education  3 results see all →