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Related Concept Videos

Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
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Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists01:18

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists

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 (ECE). Of...
Targeted Cancer Therapies02:57

Targeted Cancer Therapies

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 specific...

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Updated: May 13, 2026

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine
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Gene-based therapy for alpha-1 antitrypsin deficiency.

Christian Mueller1, Terence R Flotte

  • 1Gene Therapy Center and Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.

COPD
|March 27, 2013
PubMed
Summary

Gene therapy for Alpha-1 antitrypsin Deficiency (AATD) shows promise for lung disease. Current trials indicate a need for higher vector doses to reach therapeutic Alpha-1 antitrypsin (AAT) levels.

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Published on: March 10, 2023

Area of Science:

  • Medical Genetics
  • Pulmonology
  • Gene Therapy

Background:

  • Alpha-1 antitrypsin Deficiency (AATD) is a common single-gene disorder.
  • Augmenting plasma levels of wild-type alpha-1 antitrypsin (AAT) may benefit lung disease patients.
  • AAT gene therapy is attractive due to the protein's extracellular function and short coding sequence.

Purpose of the Study:

  • To evaluate the potential of gene therapy for treating Alpha-1 antitrypsin Deficiency (AATD).
  • To assess the efficacy of various gene transfer vectors in augmenting plasma AAT levels.
  • To identify areas for improvement in AAT gene therapy approaches.

Main Methods:

  • Development of AAT therapies using nonviral gene transfer, gammaretrovirus, recombinant adenovirus (rAd), and recombinant adeno-associated virus (rAAV) vectors.
  • Conducting Phase I and Phase II clinical trials to assess safety and preliminary efficacy.
  • Measuring plasma AAT levels achieved through gene therapy interventions.

Main Results:

  • Three Phase I and one Phase II clinical trials have been conducted using different gene therapy vectors.
  • The Phase II trial with rAAV1 demonstrated promising results but achieved only 3-5% of the target therapeutic AAT range.
  • Current gene therapy approaches require optimization to reach therapeutic AAT levels.

Conclusions:

  • Gene therapy holds potential for treating AATD-related lung disease.
  • Further research is needed to increase vector dosage and optimize delivery for therapeutic AAT augmentation.
  • Successful AAT gene therapy could significantly benefit patients with lung manifestations of AATD.