E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Pompe disease (acid alpha-glucosidase deficiency) |
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E.1.1.1 | Medical condition in easily understood language |
People with Pompe disease have low levels of an enzyme called acid alpha-glucosidase. This enzyme helps the body control levels of glycogen (a type of carbohydrate). |
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E.1.1.2 | Therapeutic area | Diseases [C] - Nutritional and Metabolic Diseases [C18] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 20.0 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10036143 |
E.1.2 | Term | Pompe's disease |
E.1.2 | System Organ Class | 100000011505 |
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E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
The primary objective of this study is to characterize the pharmacokinetics of alglucosidase alfa manufactured at the 4000 L scale in patients who have a confirmed diagnosis of Pompe disease. |
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E.2.2 | Secondary objectives of the trial |
A secondary objective of this study is to evaluate and explore the relationship between anti-rhGAA antibody titers and the pharmacokinetics of alglucosidase alfa. |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
A patient must meet all of the following criteria to be eligible for this study.
-The patient and/or the patient’s parent/legal guardian is willing and able to provide signed informed consent.
-The patient has a confirmed GAA enzyme deficiency from skin, blood, or muscle tissue and/or 2 confirmed GAA gene mutations.
-Infant and toddler Pompe disease patients can be included in the study only under condition (minimal body weight) that the trial-related blood loss (including any losses in the maneuver) will not exceed 3 percent of the total blood volume during a period of 4 weeks and will not exceed 1 percent at any single time.
-The patient, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin) at screening. Note: All female patients of childbearing potential and sexually mature males must agree to use a medically accepted method of contraception throughout the study.
-For patients previously treated with alglucosidase alfa the patient has received alglucosidase alfa for at least 6 months. |
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E.4 | Principal exclusion criteria |
A patient who meets any of the following criteria will be excluded from this study.
-The patient is participating in another clinical study using an investigational product.
-The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study. |
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E.5 End points |
E.5.1 | Primary end point(s) |
Maximum observed concentration (Cmax)
Actual sampling time to reach maximum observed concentration (Tmax)
Area under the concentration-time curve from 0 to the time of the last quantifiable concentration (AUC last)
Area under the concentration-time curve from time 0 and extrapolated to infinite time (AUC inf)
Terminal elimination half-life (T1/2)
Total systemic clearance (CL)
Volume of distribution (Vd)
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
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E.5.2 | Secondary end point(s) |
Pharmacokinetic (PK) parameters assessed in relation to anti-rhGAA antibody titers
Pharmacokinetic (PK) parameters assessed in relation to inhibitory/neutralizing anti-rhGAA antibody titers. |
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | Yes |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | No |
E.6.6 | Pharmacokinetic | Yes |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | Yes |
E.6.13.1 | Other scope of the trial description |
To evaluate and explore the relationship between anti-rhGAA antibody titers and the pharmacokinetics of alglucosidase alfa.
Pharmacokinetic study.
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E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | No |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | No |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | Yes |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | No |
E.8.1.2 | Open | Yes |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | No |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | No |
E.8.2.4 | Number of treatment arms in the trial | 1 |
E.8.3 |
The trial involves single site in the Member State concerned
| No |
E.8.4 | The trial involves multiple sites in the Member State concerned | Yes |
E.8.4.1 | Number of sites anticipated in Member State concerned | 4 |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 5 |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | Yes |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
E.8.6.3 | If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned |
Bulgaria |
Germany |
India |
Russian Federation |
Ukraine |
United Kingdom |
United States |
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E.8.7 | Trial has a data monitoring committee | Yes |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
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The end of the study is defined as the date the last active patient completes the last required study visit. |
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | |
E.8.9.1 | In the Member State concerned months | 6 |
E.8.9.1 | In the Member State concerned days | 16 |
E.8.9.2 | In all countries concerned by the trial years | 4 |
E.8.9.2 | In all countries concerned by the trial months | 1 |
E.8.9.2 | In all countries concerned by the trial days | 0 |