Pompe DiseasePhase 1NCT03533673
AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease
A Phase 1 study testing ACTUS-101 in people with Pompe Disease, run by AskBio Inc at 1 site in United States.
Trial summary
Open-label, ascending dose trial of ACTUS-101 administered intravenously. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pompe Disease
- What is being tested?
- ACTUS-101
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 7 participants
- Where
- 1 siteUnited States
- Study dates
- 17 Dec 2018to 12 Mar 2026
- Phase
- Phase 1
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Diagnosis of Pompe disease by blood or skin fibroblast GAA assay and two pathogenic variants in the GAA gene,
- Age: Greater than or equal to 18 years at enrollment.
- Subjects are capable of giving written informed consent.
- Able to walk at least 100 meters on the 6MWT (with assistive devices permitted).
- FVC within the range of 30% to less 90% (inclusive) of predicted in the upright position.
- Subjects with a confirmed diagnosis of LOPD who have been treated with ERT for at least 104 weeks (inclusive) immediately preceding screening and receiving a stable dose of ERT for the 52-week period immediately preceding dosing.
Who cannot join
- Invasive ventilation required or noninvasive ventilation required while awake and upright.
- FVC <20% of predicted (supine).
- Received any live vaccination 2 months prior to study Day 1.
- Pregnant or nursing mothers.
- Serology consistent with exposure to HIV, or serology consistent with active hepatitis A, B or C infection. Any active liver disease.
- Active infection based upon clinical symptoms.
- Having started respiratory muscle strength training in the last 6 months prior to study day 1 or having discontinued respiratory muscle strength training in the 6-month period preceding study day 1, or having started respiratory strength training greater than 6 months prior to study day 1 and unwilling to continue for the first year of study participation.
- Received an investigational drug or participated in another interventional study within 90 days prior to Study Day 1. Additionally, subjects cannot participate in any other interventional clinical trial throughout the first 78 weeks after receiving ACTUS-101.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Phase 1 Study of the Safety of AAV2/8-LSPhGAA (ACTUS-101) in Late-onset Pompe Disease
Open-label, ascending dose trial of ACTUS-101 administered intravenously.
Read the detailed description
This study will be a prospective, open-label trial designed to objectively assess the safety and bioactivity of ACTUS-101 in subjects diagnosed with Pompe disease, which is caused by a defect in acid α-glucosidase (GAA) gene. ACTUS-101 is intended to enable expression of a functional copy of the GAA gene in subject's hepatocytes.
- Conditions
- Pompe Disease
- Being tested
- ACTUS-101
- Keywords
- Gene Therapy
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ACTUS-101Genetic
Adeno-associated virus serotype 8 carrying the human GAA gene under the control of the LSP promoter.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Experimental | A one-time intravenous infusion of ACTUS-101 (dose level 1) Receives: Genetic: ACTUS-101 |
| Cohort 2 | Experimental | A one-time intravenous infusion of ACTUS-101 (dose level 2) Receives: Genetic: ACTUS-101 |
| Cohort 3 | Experimental | A one-time intravenous infusion of ACTUS-101 (dose level 3) Receives: Genetic: ACTUS-101 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of patient reported Treatment Emergent Adverse Events (TEAEs) (safety and tolerability)
The incidence of patient reported TEAEs will be measured according to protocol specifications.
Measured: 78 weeks
Incidence of patient reported Serious Adverse Events (SAEs) (safety and tolerability)
The incidence of patient reported SAEs will be measured according to protocol specifications.
Measured: 78 weeks
Number of Participants With Abnormal Laboratory Values
Laboratory assessments will be performed (CBC, Chemistry, urinalysis, serology, anti-GAA antibody, T-cell response, GAA activity) and compared to baseline values.
Measured: 78 weeks
Secondary outcomes (10)
Muscle GAA Bioactivity
Muscle GAA activity will be compared to baseline by muscle biopsy
Measured: 78 weeks
Serum GAA Bioactivity
Serum GAA activity will be compared to baseline by blood screening
Measured: 78 weeks
Glycogen content in muscle
Muscle glycogen level compared to baseline by muscle biopsy
Measured: 78 weeks
Anti-rhGAA antibody formation
Anti-rhGAA antibodies monitored by ELISA
Measured: 78 weeks
Muscle Status Testing - 6 minute walk test
The 6-minute walk test will be performed and results compared to baseline.
Measured: 78 weeks
Muscle Status Testing - Gross Motor Function Measure
The gross motor function measure (GMFM88) will be performed and the results compared to baseline.
Measured: 78 weeks
Muscle Status Testing - Quick Motor Function Test (QMFT) Measure
Measurement of functional motor abilities using the Quick Motor Function Test (QMFT) will be performed and the results compared with baseline.
Measured: 78 weeks
Muscle Status Testing - Gait, Stairs, Gower, Chair
The Gait, Stairs, Gower, Chair (GSGC) test will be performed and results compared to baseline.
Measured: 78 weeks
Pulmonary Function Testing
Pulmonary function (forced vital capacity, FVC in liters of air) measured by spirometer in comparison to baseline.
Measured: 78 weeks
Muscle Status Testing - Timed up and Go (TUG)
Measurement of functional motor abilities using the Timed up and Go (TUG) test will be performed and the results compared with baseline.
Measured: 78 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 May 2018
- Study start17 Dec 2018
- Primary completion30 Sep 2022
- Study completion12 Mar 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 7 participants (actual)
Sponsor and investigators
- Lead sponsor
- AskBio Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03533673
- Sponsor's protocol ID
- ACT-CS101
- Status last verified
- Apr 2026
- First submitted
- 13 Apr 2018
- Last updated
- 13 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO, Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D, Kishnani PS, Koeberl DD. Phase I study of liver depot gene therapy in late-onset Pompe disease. Mol Ther. 2023 Jul 5;31(7):1994-2004. doi: 10.1016/j.ymthe.2023.02.014. Epub 2023 Feb 18.
PubMed 36805083
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 1 Study of the Safety of AAV2/8-LSPhGAA (ACTUS-101) in Late-onset Pompe Disease
- ClinicalTrials.gov ID
- NCT03533673
- Acronym / sponsor ID
- ACT-CS101
- Conditions
- Pompe Disease
- Keywords
- Gene Therapy
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 7 participants (actual)
- Lead sponsor
- AskBio IncIndustry (pharma, biotech, devices)
- Study start
- 17 Dec 2018 (actual)
- Primary completion
- 30 Sep 2022 (actual)
- Study completion
- 12 Mar 2026 (actual)
- First posted
- 23 May 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Open-label, ascending dose trial of ACTUS-101 administered intravenously.
Detailed description
This study will be a prospective, open-label trial designed to objectively assess the safety and bioactivity of ACTUS-101 in subjects diagnosed with Pompe disease, which is caused by a defect in acid α-glucosidase (GAA) gene. ACTUS-101 is intended to enable expression of a functional copy of the GAA gene in subject's hepatocytes.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | Experimental | Genetic: ACTUS-101A one-time intravenous infusion of ACTUS-101 (dose level 1) |
| Cohort 2 | Experimental | Genetic: ACTUS-101A one-time intravenous infusion of ACTUS-101 (dose level 2) |
| Cohort 3 | Experimental | Genetic: ACTUS-101A one-time intravenous infusion of ACTUS-101 (dose level 3) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- Diagnosis of Pompe disease by blood or skin fibroblast GAA assay and two pathogenic variants in the GAA gene,
- Age: Greater than or equal to 18 years at enrollment.
- Subjects are capable of giving written informed consent.
- Able to walk at least 100 meters on the 6MWT (with assistive devices permitted).
- FVC within the range of 30% to less 90% (inclusive) of predicted in the upright position.
Key exclusion criteria (8 listed)
- Invasive ventilation required or noninvasive ventilation required while awake and upright.
- FVC <20% of predicted (supine).
- Received any live vaccination 2 months prior to study Day 1.
- Pregnant or nursing mothers.
- Serology consistent with exposure to HIV, or serology consistent with active hepatitis A, B or C infection. Any active liver disease.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ACTUS-101Adeno-associated virus serotype 8 carrying the human GAA gene under the control of the LSP promoter. | Genetic | Cohort 1, Cohort 2, Cohort 3 |
Primary outcome
Incidence of patient reported Treatment Emergent Adverse Events (TEAEs) (safety and tolerability)
Time frame: 78 weeks
The incidence of patient reported TEAEs will be measured according to protocol specifications.
Incidence of patient reported Serious Adverse Events (SAEs) (safety and tolerability)
Time frame: 78 weeks
The incidence of patient reported SAEs will be measured according to protocol specifications.
Number of Participants With Abnormal Laboratory Values
Time frame: 78 weeks
Laboratory assessments will be performed (CBC, Chemistry, urinalysis, serology, anti-GAA antibody, T-cell response, GAA activity) and compared to baseline values.
10 secondary outcomes
Muscle GAA Bioactivity
Time frame: 78 weeks
Serum GAA Bioactivity
Time frame: 78 weeks
Glycogen content in muscle
Time frame: 78 weeks
Anti-rhGAA antibody formation
Time frame: 78 weeks
Muscle Status Testing - 6 minute walk test
Time frame: 78 weeks
Muscle Status Testing - Gross Motor Function Measure
Time frame: 78 weeks
Muscle Status Testing - Quick Motor Function Test (QMFT) Measure
Time frame: 78 weeks
Muscle Status Testing - Gait, Stairs, Gower, Chair
Time frame: 78 weeks
Pulmonary Function Testing
Time frame: 78 weeks
Muscle Status Testing - Timed up and Go (TUG)
Time frame: 78 weeks
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2026.
- Derived from this study: PubMed 36805083Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO, Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D, Kishnani PS, Koeberl DD. Phase I study of liver depot gene therapy in late-onset Pompe disease. Mol Ther. 2023 Jul 5;31(7):1994-2004. doi: 10.1016/j.ymthe.2023.02.014. Epub 2023 Feb 18.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing ACTUS-101 in people with Pompe Disease, run by AskBio Inc at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of patient reported Treatment Emergent Adverse Events (TEAEs) (safety and tolerability) (time frame: 78 weeks). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03533673, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Apr 2026; AzTrials last refreshed its copy on 7 Nov 2026.