Gene Therapy for Alpha 1- Antitrypsin Deficiency

ConditionAlpha 1-Antitrypsin Deficiency

Trial statusRecruiting

Trial phasePhase 1

Trial typeInterventional

Biological sexAll

Age18-70

SponsorWeill Medical College of Cornell University

About this trial

This is a study of gene therapy to treat alpha 1-antitrypsin (AAT) deficiency. This study aims to treat AAT deficiency with a single administration of AAV8hAAT(AVL), a gene therapy that codes for an oxidation resistant form of the AAT protein, which if safe and if efficacious, will protect the lung on a persistent basis. We hope to learn the safety/toxicity and initial evidence of efficacy of intravenous delivery of this gene therapy to alpha 1-antitrypsin deficient individuals.

Eligibility criteria

Qualifiers

AAT genotype ZZ, or Z null heterozygotes, and if on augmentation therapy, pre-therapy AAT serum levels <11 μM

Emphysema as assessed by chest high resolution computational tomography (HRCT)

Lung function parameters consistent with mild to moderate loss of lung function and the presence of emphysema.

Troponin T within normal limits

Disqualifiers

Individuals receiving systemic corticosteroids or other immunosuppressive medications for pre-existing conditions.

Inability to tolerate immunosuppression with corticosteroids (e.g., uncontrolled diabetes)

Individuals with an immunodeficiency disease, or evidence of active infection of any type, including human immunodeficiency virus

Evidence of major central nervous system, major psychiatric, musculoskeletal or immune disorder

Trial design

Treatments tested in this trial

AAV8hAAT(AVL)

Treatment groups

16 Participants

are divided into 4 treatment groups

Sponsors and collaborators

Weill Medical College of Cornell University

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Collaborator

Source ClinicalTrials.gov