AB-1009 gene therapy for adults with late-onset Pompe disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This open-label, single-arm, dose-escalation study will enroll up to 12 adults with late-onset Pompe disease to receive one intravenous infusion of AB-1009 and be followed for safety and signs of clinical benefit. Participants are assigned to one of two dose cohorts (1.0E13 vg/kg or 1.5E13 vg/kg). Eligibility requires confirmed GAA deficiency and at least six months of prior enzyme replacement therapy, with respiratory and walking function within specified ranges. The main observation period is 52 weeks after dosing, with long-term follow-up extending for approximately four years to monitor durability and late safety signals.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. Participant must be ≥18 to ≤65 years of age at the time of signing the informed consent form.
2. Confirmed GAA enzyme deficiency from any tissue source and/or confirmed biallelic GAA gene mutations.
3. Undergone enzyme replacement treatment (ERT) (either alglucosidase alfa (Lumizyme®), avalglucosidase alfa-ngpt (Nexviazyme®)), or cipaglucosidase alfa (Pombiliti®) for at least 6 months (at least 10 infusions) before signing the initial informed consent form. During the screening process, participants need to remain on their current ERT until close to dosing;
4. FVC in the upright position ≥30% and ≤80% of predicted;
5. Capable of walking at least 100 meters in the 6MWT (use of a cane, quad cane, or standard walker is permitted);
6. Male or female. Contraceptive/barrier use by men and women requirements as per protocol.
7. Capable of giving informed consent.
8. Able to understand and comply with all study procedures.

Exclusion Criteria:

1. Severe cardiomyopathy, defined as left ventricular ejection fraction (LVEF) \<40% or New York Heart Association (NYHA) functional class 3 or above;
2. Require invasive mechanical ventilation, or rely on noninvasive ventilation during the day;
3. Intolerance to ERT or investigator-assessed intolerance to ERT, prior experience of serious ERT-related infusion-associated reactions (IARs);
4. Have known intrinsic liver diseases, including hepatitis, HIV-related liver disease, prior diagnosis of portal hypertension, splenomegaly, hepatic encephalopathy, severe fatty liver, cirrhosis or liver fibrosis ≥stage 2, ultrasound-identified liver neoplasms, or laboratory tests suggesting elevated alpha-fetoprotein. Patients with liver function tests including ALT or AST \>3× upper limit of normal (ULN) or any total bilirubin above ULN during screening will also be excluded;
5. Prior or ongoing medical condition(s), including any active infection, malignancy within 5 years of screening (except basal or squamous cell skin cancer), physical finding(s), assessment findings, or laboratory abnormality that, in the investigator's opinion, would impact participant's safety and compliance with the study procedures.
6. Have received gene therapy prior to screening;
7. Have received any systemic immunosuppressants (except inhalation or topical use) other than glucocorticoids 30 days prior to screening through completion of screening through completion of screening, and/or known intolerance to immunosuppressants such as glucocorticoids; other concomitant immunosuppression would require sponsor approval.
8. Use of investigational drugs or drugs that could affect this study as evaluated by the investigator within 30 days prior to screening through completion of Week 52 or within 5 half-lives of the investigational drug (whichever is longer);
9. Have received any vaccine within 30 days prior to dosing;
10. Other conditions that make the participant not eligible for the study according to the investigator.
11. Contraindication to MRI, hypersensitivity to contrast dyes, shellfish, or iodine, or implanted spinal rods, cardiac pacemaker, or other implantation that would distort cMRI images.

Where it's running

• University of California, Irvine (UCI)
  Irvine, California, United States Recruiting
• Duke University
  Durham, North Carolina, United States Recruiting
• Hospital of the University of Pennsylvania
  Philadelphia, Pennsylvania, United States Recruiting
• University of Pittsburgh Medical Center (UPMC)
  Pittsburgh, Pennsylvania, United States Recruiting
• University of Texas Southwest Medical Center
  Dallas, Texas, United States Recruiting
• Barrow Neurological Institute
  Phoenix, Arizona, United States Not yet recruiting

Study contacts

• Study coordinator: AskFirst Patient Engagement
• Email: AskFirst@AskBio.com
• Phone: 919-561-6210

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.