Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease

• Register: ClinicalTrials.gov
• Last refreshed on: 12 July 2021
• Main ID: NCT02240407
• Date of registration: 11/09/2014
• Prospective Registration: Yes
• Primary sponsor: University of Florida
• Public title: Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease AAV9-GAA_IM
• Scientific title: Evaluation of Re-administration of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV9-DES-hGAA) in Patients With Late-Onset Pompe Disease (LOPD)
• Date of first enrolment: October 17, 2017
• Target sample size: 2
• Recruitment status: Active, not recruiting
• URL: https://clinicaltrials.gov/show/NCT02240407
• Study type: Interventional
• Study design: Allocation: Randomized. Intervention model: Parallel Assignment. Primary purpose: Treatment. Masking: Triple (Participant, Investigator, Outcomes Assessor).
• Phase: Phase 1

Countries of recruitment

United States

Contacts

• Name: Manuela Corti, P.T., PhD.
• Affiliation: University of Florida

Key inclusion & exclusion criteria

Inclusion Criteria:

- Male or female subjects 18 to 50-years old

- Have a diagnosis of Pompe disease, as defined by protein assay AND/OR DNA sequence of
the acid alpha-glucosidase gene, AND clinical symptoms of the disease

- Have residual ability to complete the 10 meter walk test

- 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

- Consistently taking enzyme replacement therapy (ERT) or remain off ERT from baseline
until Day 520

- United States residents only.

Exclusion Criteria:

- Be pregnant or nursing, and if the subject is of child bearing potential they should
use contraception until the end of the study

- Have required oral or systemic corticosteroids within the last 15 days prior to
baseline screening

- Have a platelet count less than 75,000/mm^3

- Have an INR greater than 1.3

- Have seronegative to AAV9 capsid protein (neutralizing Ab titers <1:5 and total
binding Ab titer <50 U/ml)

- Have transaminases and alkaline phosphatase more than ten times the upper limit of
normal at screening or Day-1

- Have bilirubin and gamma-glutamyl transpeptidase greater than 2 times the upper limit
of normal at screening or Day -1

- Have any chronic liver disease (aside from hepatic dysfunction related to Pompe
disease) such as hepatitis B and C and cirrhosis

- Be currently, or within the past 30 days, participating in any other research protocol
involving investigational agents or therapies

- 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 received gene transfer agents within the past 6 months

- Have any medical condition or circumstance for which an MRI evaluation is
contraindicated

- Have any other concurrent condition that, in the opinion of the investigator, would
make the subject unsuitable for the study

- Inconsistent with use of ERT.



Age minimum: 18 Years
Age maximum: 50 Years
Gender: All

Health Condition(s) or Problem(s) studied

Pompe Disease

Intervention(s)

Drug: Acetaminophen

Drug: Rapamycin

Drug: Lidocaine

Drug: LMX 4 Topical Cream

Drug: Rituxan

Genetic: Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase

Drug: Diphenhydramine

Other: saline

Primary Outcome(s)

Safety of rAAV9-DES-hGAA vector in LOPD by blood and urine test. [Time Frame: 520 days]

Secondary Outcome(s)

Clinical tests will be performed for function of rAAV9-DES-hGAA vector. [Time Frame: 520 days]

Spectroscopy will be performed for function of rAAV9-DES-hGAA vector. [Time Frame: 520 days]

Muscle biopsy will be performed for muscular function of rAAV9-DES-hGAA vector. [Time Frame: 520 days]

Neurophysiological tests will be performed for neuro function of rAAV9-DES-hGAA vector. [Time Frame: 520 days]

Magnetic Resonance Imaging will be performed for visualization of muscle with rAAV9-DES-hGAA vector. [Time Frame: 520 days]

Secondary ID(s)

20182574

IRB201400137

Source(s) of Monetary Support

Please refer to primary and secondary sponsors