Status:
RECRUITING
Gene Therapy for Alpha-1 Antitrypsin Deficiency
Lead Sponsor:
Weill Medical College of Cornell University
Collaborating Sponsors:
National Heart, Lung, and Blood Institute (NHLBI)
Conditions:
Alpha 1-Antitrypsin Deficiency
Eligibility:
All Genders
18-70 years
Phase:
PHASE1
Brief Summary
This is a study of gene therapy to treat alpha-1 antitrypsin deficiency. This study aims to treat AAT deficiency with a single administration of AAV8hAAT(AVL), a gene therapy that codes for an oxidati...
Eligibility Criteria
Inclusion
- 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
- Normal liver ultrasound and serum alpha fetoprotein
- Normal kidney function
- No contraindications to receiving corticosteroid immunosuppression
Exclusion
- 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
- Prior history of myocardial infarction or cancer within the past 5 years (other than basal cell carcinoma of the skin)
- Decompensated heart failure (NY4A class III-IV at time of baseline clinical assessment)
- Abnormal ECG at screening with findings consistent with cardiac disease
- Females who are currently pregnant or lactating
- Any history of allergies to drugs used for bronchoscopy, including xylocaine, lidocaine, versed, valium, atropine, pilocarpine, isoproterenol, terbutaline, aminophylline, or any local anesthetic
- Individuals receiving experimental medications or participating in another experimental protocol for at least 3 months prior to entry to the study
- Use of oxygen supplementation
- Risk for thromboembolic disease
- History of significant cardiovascular disease, hypertension, prior myocardial infarction and/or cerebrovascular event
- Individuals who are currently on beta-blockers, or other cardiac therapy related drugs
- Prior history of hypersensitivity or anaphylaxis associated with the administration of any AAT product
Key Trial Info
Start Date :
February 26 2025
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
August 1 2032
Estimated Enrollment :
16 Patients enrolled
Trial Details
Trial ID
NCT06996756
Start Date
February 26 2025
End Date
August 1 2032
Last Update
September 23 2025
Active Locations (1)
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1
WCMC Department of Genetic Medicine
New York, New York, United States, 10021