Phase 2 N=13 Treatment

Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease

Pompe Disease

Bottom Line

View on ClinicalTrials.gov: NCT00976352 ↗

Enrolled (actual)

Serious AEs

33.3%

Results posted

Nov 2017

Primary outcome: Primary: Safety Assessments of the rAAV1-CMV-GAA (Study Agent), Changes Post Study Agent Administration. — 40,031; 29,638; 5,509,882; 1,907,161 mU/mL

Study Design & Population

Study type: Interventional
Phase: Phase 2
Interventions: rAAV1-CMV-GAA (study agent) Administration (Drug); RMST (Other)
Age: Pediatric, Adult · 2+ yrs
Sex: All
Sponsor: University of Florida
Primary completion: Dec 2015

Outcome Measures

Outcome	Result	p-value
PRIMARY Safety Assessments of the rAAV1-CMV-GAA (Study Agent), Changes Post Study Agent Administration.	40,031; 29,638; 5,509,882; 1,907,161; 415.6666667; 330.4	—
SECONDARY Maximal Inspiratory Pressure	6; 61; 6; 56	—
SECONDARY Evaluation of Ventilatory Performance Benefit of rAAV1-CMV-GAA Gene Transfer and Respiratory Muscle Strength Training (RMST) Compared to RMST Alone.	6.85; 60.8; 5.85; 60.8; 5.7; 55.6	—
SECONDARY Evaluation of Tidal Volume Benefit of rAAV1-CMV-GAA Gene Transfer and Respiratory Muscle Strength Training, Compared to Respiratory Muscle Strength Training Alone.	2.8; 7.9; 2.0; 7.3; 3.4; 9.1	—

Summary

Pompe disease is an inherited condition of acid alpha-glucosidase (GAA) deficiency resulting in lysosomal accumulation of glycogen in all tissues. Glycogen accumulation leads to muscle dysfunction and profound muscle weakness. A wide spectrum of disease is characteristic and the most severe patients have cardiorespiratory failure, often fatal in the first two years of life. Researchers have developed a way to introduce the normal GAA gene into muscle cells with the expectation that the GAA protein will be produced at levels sufficient to reduce glycogen accumulation. This study will evaluate the safety of the experimental gene transfer procedure in individuals with GAA deficiency. The study will also determine what dose may be required to achieve improvement in measures of respiratory function.

Eligibility Criteria

Inclusion Criteria

Male or female subjects 2-18 years of age.
Have a diagnosis of Pompe, as defined by protein assay, DNA sequence of the acid alpha-glucosidase gene and clinical symptoms of the disease.
Using assisted ventilation at baseline. Mechanical Ventilation is defined as any use of ventilation support, (including but not limited to BiPAP, CPAP), a minimum of 1 hours per day.
Willing to discontinue aspirin, aspirin-containing products and other drugs that may alter platelet function, 7 days prior to dosing, resuming 24 hours after the dose has been administered.

Exclusion Criteria

The subject must not:

Have required acute, as distinguished from long-term, maintenance or chronic suppressive, oral or intravenous antibiotic therapy for a respiratory infection within 15 days prior to baseline screening.
Have required oral or systemic corticosteroids within the last 15 days prior to baseline screening.
Have a platelet count less than 75,000/ cu mm.
Have an INR greater than 1.3.
Serological evidence of hepatitis B, hepatitis C, or HIV positive.
Be currently or within the past 30 days participating in any other research protocol involving investigational agents or therapies.
Have received gene transfer agents within the past 6 months.
Have history of platelet dysfunction, evidence of abnormal platelet function at screening or history of recent use of drugs that may alter platelet function which the subject is unable/unwilling to discontinue for study agent administration.
Have any other concurrent condition which, in the opinion of the investigator, would make the subject unsuitable for the study.

View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT00976352). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.