NCT06996756 Gene Therapy for Alpha 1- Antitrypsin Deficiency
| NCT ID | NCT06996756 |
| Status | Recruiting |
| Phase | Phase 1 |
| Sponsor | Weill Medical College of Cornell University |
| Condition | Alpha 1-Antitrypsin Deficiency |
| Study Type | INTERVENTIONAL |
| Enrollment | 16 participants |
| Start Date | 2025-02-26 |
| Primary Completion | 2028-04-30 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
Phase 1 is the earliest stage of human testing — safety and dosage are the primary focus. Visits are frequent and medical supervision is intensive. You will be among the first people to receive this treatment.
This trial targets 16 participants in total. It began in 2025-02-26 with a primary completion date of 2028-04-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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
Inclusion Criteria: * 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 Criteria: * 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
Contact & Investigator
Ronald G Crystal, MD
PRINCIPAL INVESTIGATOR
Weill Medical College of Cornell University
Frequently Asked Questions
Who can join the NCT06996756 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, up to 70 Years, studying Alpha 1-Antitrypsin Deficiency. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
What phase is the NCT06996756 trial and what does that mean for participants?
Phase 1 trials are the first stage of human testing. The primary goal is to assess safety and determine appropriate dosage levels. Participants are closely monitored. These trials typically involve a small number of volunteers.
Is NCT06996756 currently recruiting?
Yes, NCT06996756 is actively recruiting participants. Contact the research team at nis2049@med.cornell.edu for enrollment information.
Where is the NCT06996756 trial being conducted?
This trial is being conducted at New York, United States.
Who is sponsoring the NCT06996756 clinical trial?
NCT06996756 is sponsored by Weill Medical College of Cornell University. The principal investigator is Ronald G Crystal, MD at Weill Medical College of Cornell University. The trial plans to enroll 16 participants.