Related Experiment Video
Updated: Aug 7, 2025
05:53
A Step-By-Step Method to Detect Neutralizing Antibodies Against AAV using a Colorimetric Cell-Based Assay
Published on: December 7, 2021
4.7K
Alpha-1 antitrypsin deficiency: current therapy and emerging targets
Oisín F McElvaney1,2, Daniel D Fraughen1,2, Oliver J McElvaney1,2
1Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Dublin, Ireland.
Expert Review of Respiratory Medicine
|March 10, 2023
Summary
Alpha1 antitrypsin deficiency (AATD) treatments are advancing for lung, liver, and skin issues. This review covers current AATD therapies and future pipeline options, addressing delivery and efficacy challenges.
Area of Science:
- Hereditary disorders
- Pulmonology
- Hepatology
- Dermatology
Background:
- Alpha1 antitrypsin deficiency (AATD) is a prevalent genetic disorder impacting the lungs, liver, and skin.
- Recent years have seen significant advancements in therapeutic strategies for AATD.
- Understanding the complex interplay between AATD manifestations is crucial for effective treatment.
Approach:
- This review synthesizes available therapeutic options for individual organ systems affected by AATD.
- It also explores emerging treatments targeting all manifestations of the disease.
- Key challenges in AATD therapy, including optimal delivery and desired therapeutic levels, are discussed.
Key Points:
- Current treatments address lung, liver, and skin manifestations of AATD.
- Novel therapeutic approaches are in development.
- Critical questions remain regarding AAT delivery, target levels, and potential cross-organ effects.
Conclusions:
- Increased awareness and diagnosis of AATD are essential for clinical research.
- Development of sensitive clinical parameters is needed to evaluate treatment efficacy.
- Future research should focus on addressing the underlying genetic defect and comprehensive disease management.
Related Concept Videos
01:22Alzheimer's Disease: Treatment
233
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
233
01:24Cystic Fibrosis: Management
208
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
208
01:16Treatment for Pulmonary Arterial Hypertension: Oxygen Therapy for Respiratory Failure
290
Oxygen therapy has emerged as a significant tool in enhancing the quality of life for patients suffering from pulmonary arterial hypertension (PAH). While this therapy has principally been studied on patients with significant hypoxemia, this therapeutic approach helps prevent potential organ damage and can be administered in the comfort of one's home.
Oxygen therapy is vital in increasing and maintaining blood oxygen levels in PAH patients. As a result, it aids in reducing fatigue,...
Oxygen therapy is vital in increasing and maintaining blood oxygen levels in PAH patients. As a result, it aids in reducing fatigue,...
290
01:18Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists
212
Endothelins (ETs) are potent vasoactive peptides critical in the human body's various physiological and pathological processes. One of the most promising therapeutic strategies for treating pulmonary arterial hypertension (PAH) involves counteracting the effects of these endothelins using a class of drugs known as endothelin receptor antagonists.
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme...
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme...
212
02:57Targeted Cancer Therapies
7.8K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
There are several types of targeted therapies against...
7.8K
01:20Asthma: Pathogenesis and Management
497
Asthma is a chronic pulmonary condition involving inflammation of the airways, hyper-reactivity, and reversible obstruction of the airways. This condition can significantly impact a person's quality of life, making breathing difficult and leading to distressing symptoms.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
497