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About 773 results

ALLMedicine™ Alpha-1 Antitrypsin Deficiency Center

Research & Reviews  252 results

Alpha-1 antitrypsin deficiency and risk of lung cancer in never-smokers: a multicentre ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8767679
BMC Cancer; Tubío-Pérez RA, Torres-Durán M et. al.

Jan 21st, 2022 - Lung cancer (LC) is the most commonly diagnosed cancer and the leading cause of cancer-related death in both sexes worldwide. Although the principal risk factor in the western world is tobacco smoking, genetic factors, including alpha-1 antitrypsi...

Optimization of Donor-Recipient Matching in Lung Transplantation
https://clinicaltrials.gov/ct2/show/NCT05195853

Jan 19th, 2022 - Lung transplantation is the curative treatment for end-stage respiratory failure involving highly selected patients. In 2018, the International Transplant Registry counts 69200 lung transplants among 260 transplant centers. Between 2010 and June 2...

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.

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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  17 results

Optimization of Donor-Recipient Matching in Lung Transplantation
https://clinicaltrials.gov/ct2/show/NCT05195853

Jan 19th, 2022 - Lung transplantation is the curative treatment for end-stage respiratory failure involving highly selected patients. In 2018, the International Transplant Registry counts 69200 lung transplants among 260 transplant centers. Between 2010 and June 2...

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.

Phase 1 Study to Assess the Safety, PK and PD of INBRX-101 in Adults With Alpha-1 Antitrypsin Deficiency
https://clinicaltrials.gov/ct2/show/NCT03815396

Oct 13th, 2021 - This is an open-label, 2-part, dose-escalating, Phase 1 study of INBRX-101 (rhAAT-Fc). Part 1 will consist of single ascending dose (SAD) administration of INBRX-101 and Part 2 will consist of multiple ascending dose (MAD) administrations of INBRX...

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 ...

Study of ARO-AAT in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD)
https://clinicaltrials.gov/ct2/show/NCT03946449

Apr 1st, 2021 - Participants will be enrolled to receive multiple subcutaneous injections of ARO-AAT. All eligible participants will require a pre-dose biopsy completed as part of the study within the screening window. All participants will undergo an End of Stud...

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News  31 results

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...

BRIEF-Dicerna No Longer Expects To Complete Enrollment In Phyox2 In Q2
https://www.reuters.com/article/brief-dicerna-no-longer-expects-to-compl/brief-dicerna-no-longer-expects-to-complete-enrollment-in-phyox2-in-q2-idUSFWN2BJ1JP

Mar 26th, 2020 - March 26 (Reuters) - Dicerna Pharmaceuticals Inc: * DICERNA PHARMACEUTICALS - INSTITUTING MEASURES TO ENSURE CONTINUITY OF CARE AND CONTINUED DOSING OF PATIENTS CURRENTLY ENROLLED IN PHYOX2 TRIAL * DICERNA PHARMACEUTICALS INC - NO LONGER EXPECTS T...

Sixty-five roses
https://www.mdedge.com/dermatology/article/210356/business-medicine/sixty-five-roses
Brett M. Coldiron, MD

Oct 19th, 2019 - Like many of you, my wife and I took the DNA plunge for fun and spit in the cup. She is genetically perfect, but I, however, am a carrier for alpha-1 anti-trypsin deficiency, hemochromatosis, and like 1 in 19 Irish people, cystic fibrosis.

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Patient Education  6 results see all →