Pompe DiseaseNCT03893240
Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
A study testing Neutralizing Antibody to SPK-3006 capsid in people with Pompe Disease and Pompe Disease (Late-onset), run by Spark Therapeutics, Inc. at 18 sites in 6 countries.
Trial summary
The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease (LOPD) participants on an enzyme replacement regimen. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2
- What is being tested?
- Neutralizing Antibody to SPK-3006 capsid
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 61 participants
- Where
- 18 sitesin 6 countries
- Study dates
- 12 Jun 2019to 27 Oct 2020
- Phase
- Interventional
- 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
- Provide written informed consent and authorization to use protected health information in accordance with national and local privacy regulations
- Male or females ≥18 years of age
- Currently on ERT using regular recombinant human GAA infusions for at least 18 months prior to screening
- Documented history of clinically moderate late-onset Pompe disease.
Who cannot join
- History of HIV infection
- Requires any invasive ventilation (other than BiPAP at night) or noninvasive ventilation while awake and upright
- Previously received SPK-3006
- Previously dosed with any investigational or approved gene therapy product at any time or treated with an investigational drug within the last 12 weeks (vaccination studies are accepted)
- Any concurrent clinically significant condition that would not allow the potential participant to complete the Day 1 examinations, or other condition that, in the opinion of the Investigator and/or Sponsor, makes the subject unsuitable for participation in the study
- Unable or unwilling to comply with the schedule of visits and/or study assessments described in the clinical protocol.
Trial locations and contacts
18 sites in 6 countries.
18 sites in 6 countries
United States6 sites
University of Kansas Medical Center
Kansas City, Kansas, 66160
University of Minnesota Medical School
Minneapolis, Minnesota, 55455
University of California Irvine Health
Orange, California, 92868
Barrow Neurological Institute
Phoenix, Arizona, 85013
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, 15213
Oregon Health & Science University
Portland, Oregon, 97239
Italy6 sites
Università degli Studi di Messina
Messina, 98125
Universita degli Studi di Milano - Clinica Oculistica I
Milan, 20122
Università degli Studi di Napoli Federico II
Naples, 80131
Fondazione Mondino Istituto Neurologico Nazionale a Carattere Scientifico
Pavia, 27100
Azienda Ospedaliero Universitaria Pisana
Pisa, 56126
Azienda Ospedaliera Universitaria Citta della Salute e della Scienza di Torino
Torino, 10126
France3 sites
Hôpital Raymond-Poincaré
Garches, Hauts-de-Seine, 92380
Assistance Publique Hôpitaux de Marseille
Marseille, 13385
CHU Nice
Nice, 06001
United Kingdom1 site
Salford Royal NHS Foundation Trust
Salford, M6 8HD
About this study
Official title: A Multi-Center, Low-Interventional Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease (LOPD) participants on an enzyme replacement regimen. Additionally, a careful evaluation of laboratory and functional testing in patients with LOPD may provide information to better understand the disease features and better drive the design of a future interventional investigational gene therapy trial. An understanding of the underlying status of liver and muscle health in individuals with LOPD may also inform best surveillance during the conduct of gene therapy trials.
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, LOPD, Lysosomal Storage Diseases, Acid Maltase Deficiency
- Being tested
- Neutralizing Antibody to SPK-3006 capsid
- Medical subject headings
- Glycogen Storage Disease Type II, Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Neutralizing Antibody to SPK-3006 capsidDiagnostic test
Collected during a single study visit to establish the occurrence of neutralizing antibodies to SPK-3006 capsid in participants with LOPD on an enzyme replacement regimen.
| Study group | Role | What they receive |
|---|---|---|
| Participants with Late Onset Pompe disease | Other | This is a multi-center, low-interventional study with a retrospective component in participants with LOPD. During a single study visit, assessments including but not limited to, liver health, neutralizing antibodies to SPK-3006 capsid and GAA, anti-GAA binding antibodies, GAA activity and GAA antigen levels will be performed. Additional information will be collected to provide retrospective evaluations relating to muscle and liver inflammation and/or injury. Historic data relating to Pompe disease will be collected from medical records. The retrospective and laboratory data collected may assist in providing baseline information for a future investigational gene therapy study. Receives: Diagnostic Test: Neutralizing Antibody to SPK-3006 capsid |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neutralizing Antibodies Titer to SPK-3006 capsid
The neutralizing antibodies titer to SPK-3006 is measured once prospectively at one site visit.
Measured: 1 day
Occurrence of Neutralizing Antibodies to SPK-3006 capsid
The proportion of participants who have Neutralizing Antibodies to SPK-3006 capsid.
Measured: 1 day
Secondary outcomes (6)
Anti-GAA binding antibodies Titer
Anti-GAA binding antibodies titer is measured once prospectively at one site visit.
Measured: 1 day
Occurrence of Anti-GAA binding antibodies across participants
The proportion of participants who have Anti-GAA binding antibodies.
Measured: 1 day
Neutralizing antibodies to circulating GAA Titer
Neutralizing antibodies to circulating GAA titer is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent.
Measured: 1 day
Occurrence of Neutralizing antibodies to circulating GAA
The proportion of participants who have neutralizing antibodies to circulating GAA.
Measured: 1 day
GAA activity level
GAA activity level (percent of normal) is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent.
Measured: 1 day
GAA antigen level
GAA antigen level (percent of normal) is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Mar 2019
- Study start12 Jun 2019
- Primary completion27 Oct 2020
- Study completion27 Oct 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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 N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 61 participants (actual)
Sponsor and investigators
- Lead sponsor
- Spark Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Tahseen Mozaffar, MD, Principal investigator, University of California Irvine Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03893240
- Sponsor's protocol ID
- SPK-GAA-100
- Status last verified
- Mar 2023
- First submitted
- 11 Mar 2019
- Last updated
- 24 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multi-Center, Low-Interventional Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
- ClinicalTrials.gov ID
- NCT03893240
- Acronym / sponsor ID
- SPK-GAA-100
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, LOPD, Lysosomal Storage Diseases, Acid Maltase Deficiency
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 61 participants (actual)
- Lead sponsor
- Spark Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 12 Jun 2019 (actual)
- Primary completion
- 27 Oct 2020 (actual)
- Study completion
- 27 Oct 2020 (actual)
- First posted
- 28 Mar 2019 (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.
The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease (LOPD) participants on an enzyme replacement regimen. Additionally, a careful evaluation of laboratory and functional testing in patients with LOPD may provide information to better understand the disease features and better drive the design of a future interventional investigational gene therapy trial. An understanding of the underlying status of liver and muscle health in individuals with LOPD may also inform best surveillance during the conduct of gene therapy trials.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Late Onset Pompe disease | Other | Diagnostic Test: Neutralizing Antibody to SPK-3006 capsidThis is a multi-center, low-interventional study with a retrospective component in participants with LOPD. During a single study visit, assessments including but not limited to, liver health, neutralizing antibodies to SPK-3006 capsid and GAA, anti-GAA binding antibodies, GAA activity and GAA antigen levels will be performed. Additional information will be collected to provide retrospective evaluations relating to muscle and liver inflammation and/or injury. Historic data relating to Pompe disease will be collected from medical records. The retrospective and laboratory data collected may assist in providing baseline information for a future investigational gene therapy study. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Provide written informed consent and authorization to use protected health information in accordance with national and local privacy regulations
- Male or females ≥18 years of age
- Currently on ERT using regular recombinant human GAA infusions for at least 18 months prior to screening
- Documented history of clinically moderate late-onset Pompe disease.
Key exclusion criteria (6 listed)
- History of HIV infection
- Requires any invasive ventilation (other than BiPAP at night) or noninvasive ventilation while awake and upright
- Previously received SPK-3006
- Previously dosed with any investigational or approved gene therapy product at any time or treated with an investigational drug within the last 12 weeks (vaccination studies are accepted)
- Any concurrent clinically significant condition that would not allow the potential participant to complete the Day 1 examinations, or other condition that, in the opinion of the Investigator and/or Sponsor, makes the subject unsuitable for participation in the study
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 |
|---|---|---|
| Neutralizing Antibody to SPK-3006 capsidCollected during a single study visit to establish the occurrence of neutralizing antibodies to SPK-3006 capsid in participants with LOPD on an enzyme replacement regimen. | Diagnostic test | Participants with Late Onset Pompe disease |
Primary outcome
Neutralizing Antibodies Titer to SPK-3006 capsid
Time frame: 1 day
The neutralizing antibodies titer to SPK-3006 is measured once prospectively at one site visit.
Occurrence of Neutralizing Antibodies to SPK-3006 capsid
Time frame: 1 day
The proportion of participants who have Neutralizing Antibodies to SPK-3006 capsid.
6 secondary outcomes
Anti-GAA binding antibodies Titer
Time frame: 1 day
Occurrence of Anti-GAA binding antibodies across participants
Time frame: 1 day
Neutralizing antibodies to circulating GAA Titer
Time frame: 1 day
Occurrence of Neutralizing antibodies to circulating GAA
Time frame: 1 day
GAA activity level
Time frame: 1 day
GAA antigen level
Time frame: 1 day
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 24 Mar 2023.
- 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.
Tahseen Mozaffar, MD principal investigator
University of California Irvine Health
18 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Neutralizing Antibody to SPK-3006 capsid in people with Pompe Disease and Pompe Disease (Late-onset), run by Spark Therapeutics, Inc. at 18 sites in 6 countries.
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 4 inclusion and 6 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 24 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 18 sites in United States, Italy, France, Germany, Netherlands and 1 more country. 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.
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?
Neutralizing Antibodies Titer to SPK-3006 capsid (time frame: 1 day). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 24 Mar 2023.