A study of safety, tolerability and efficacy of a single intravenous infusion of SPK-3006 in adults with late-onset Pompe disease (type II glycogen storage disease)
- Conditions
- Pompe Disease (also known as glycogen storage disease type II)MedDRA version: 20.1Level: PTClassification code 10053185Term: Glycogen storage disease type IISystem Organ Class: 10010331 - Congenital, familial and genetic disordersTherapeutic area: Body processes [G] - Metabolic Phenomena [G03]
- Registration Number
- EUCTR2019-001283-30-NL
- Lead Sponsor
- Spark Therapeutics
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Authorised-recruitment may be ongoing or finished
- Sex
- All
- Target Recruitment
- 20
1. Able to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use protected health information (PHI) in accordance with national and local privacy regulations;
2. Males and Females =18 years of age with a confirmed diagnosis (i.e. genetic testing) of late-onset Pompe disease, based on a documented deficiency of GAA enzyme activity and GAA genotyping;
3. Received ERT for at least the previous 24 months and maintained a stable dose, frequency and compliance for the past 6 months with no dose variation;
4. Have clinically moderate, late-onset Pompe disease characteristics;
a. Able to walk =75 meters on the 6-Minute Walk Test (assistive devices permitted) but less than 500 meters assessed at 2 timepoints prior to initiating immunosuppression (Day -6) with <10% variance between the assessments. If the variance is =10%, a third timepoint will be collected;
b. Percentage of the predicted FVC = 30% and = 80% in the upright position;
5. Agree to use reliable contraception for a minimum 6 months after administration of SPK-3006. Female candidates of child bearing potential must have a negative pregnancy test prior to initiating immunosuppression (Day -6) and on Day 0 prior to administration of SPK-3006
6. Agree to refrain from blood, plasma, platelets, egg or sperm donation during the study period
Are the trial subjects under 18? no
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 20
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range
1. Active hepatitis B and/or C; All candidates must be screened for both active hepatitis B and C, regardless of prior known history.
a. Screening for hepatitis B. All candidates must have a single sample at screening for each of the following tests: HBsAg (Hepatitis B surface antigen), anti-HBc (Total Hepatitis B core antibody), and an HBV-DNA viral assay (nucleic acid test for hepatitis B virus DNA).
i. A candidate is not eligible if either HbsAg is positive or HBV-DNA is positive/detectable.
ii. A candidate is eligible if the anti-HBc is positive and both HBsAg and HBV DNA are negative, as this would be consistent with a prior infection of hepatitis B. Anti-HBc must be obtained in all candidates to discriminate between acute infection and possible reactivation of hepatitis B during the trial in candidates with no prior history of hepatitis B.
iii. A candidate who is currently undergoing antiviral therapy for chronic hepatitis B is not eligible.
b. Screening for hepatitis C:
iv. A candidate who is currently undergoing antiviral therapy for chronic hepatitis C is not eligible.
v. All other candidates, including those who have never been treated or who have completed antiviral therapy for chronic hepatitis C must have a single HCV-RNA load assay (also referred to as a nucleic acid test [NAT] for HCV RNA) at screening.
• A candidate is not eligible if his HCV-RNA load assay is positive/detectable.
• Candidates treated with anti-viral therapy for chronic hepatitis C, must have completed anti-viral therapy at least 6 months prior to screening and have a negative HCV-RNA at the time of screening.
• Candidates with a documented or self-reported history of HCV must have a single negative HCV-RNA at time of screening.
2. Significant underlying liver disease. A candidate is not eligible if any of the following pre-existing diagnoses, which are indicative of significant underlying liver disease, are present in the medical record:
• Liver Cirrhosis;
• Portal hypertension; or
• Hepatic encephalopathy
All candidates who do not have the pre-existing diagnoses listed above must have the following assessments performed at screening:
• Measurement of serum albumin. A candidate is not eligible if the serum albumin level is below the testing laboratory’s lower limit of normal;
• Liver fibrosis = stage 3. The following results are indicative of fibrosis = stage 3 and exclude the candidate from participation:
- FibroScan, with a score > 8.3 kPa units
- FibroTest/ FibroSURE with a result > 0.48
- AST-Platelet Ratio Index (APRI) >1;
Of note, if results from more than one modality for evaluation of liver fibrosis are available (e.g., results from both FibroScan and FibroSURE are available) the result from FibroScan should be consulted for determination of liver fibrosis as it will take precedence over other modalities.
3. Human immunodeficiency virus infection;
4. Prior hypersensitivity to GAA;
5. Pre-existing anti-AAV neutralizing antibody titers >1:1;
6. High titer antibody responses to rhGAA (anti-GAA >1:30,000);
7. Participation in a clinical study with investigational drug in the past six months (vaccination studies are accepted; observation studies are accepted after discussion with the sponsor medical monitor);
8. Requires any invasive ventilation or requires noninvasive ventilation while awake and upright;
9. Any change to respiratory muscle strength training within 90 days prior to informed consent (for participants re
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method