E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
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MedDRA Classification |
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 the study is to evaluate the safety and tolerability of two dose regimens of orally administered AT2101 in treatment-naïve patients with type 1 Gaucher disease. |
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E.2.2 | Secondary objectives of the trial |
The secondary objective of the study is to assess pharmacodynamic effects of two dose groups of orally administered AT2101 in treatment-naïve patients with type 1 Gaucher disease. |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
Subjects must meet all of the following criteria in order to be considered for enrollment into the study: •Confirmed diagnosis of type 1 Gaucher disease with a known genotype and a documented missense gene mutation in at least one of the two mutated GBA alleles •Clinically stable •Treatment naïve to ERT/SRT or has not received ERT/SRT in the 12 months before screening •Willing not to initiate ERT or SRT treatment during study participation •Male or female subjects, 18 to 74 years old inclusive •At the screening period visit (Day -21 to Day -1), subjects must meet at least two of the following criteria: - Platelet count of ≤150,000 per microliter (≤150 x 109 per liter) - Hemoglobin ≤12 g/dL for females and ≤13 g/dL for males - Liver volume ≥1.25 multiples of normal - Spleen volume ≥2 multiples of normal •All subjects of reproductive potential are required to practice an acceptable method of contraception as defined in Section 5.5 of the protocol •Provide written informed consent to participate in the study
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E.4 | Principal exclusion criteria |
Subjects presenting with any of the following will not be included in the study: •A clinically significant disease, severe complications from Gaucher disease, or serious intercurrent illness that may preclude participation in the study in the opinion of the Investigator •During the screening period, any clinically significant findings, based on physical and brief neurological examination, medical history review, laboratory assessment, vital sign assessment and/or other significant finding which would compromise the safety of the subject, or preclude the subject from completing the study as deemed by the Investigator •Partial or total splenectomy •Documentation of moderate or severe pulmonary hypertension, defined as pulmonary arterial pressure (PAP) >35 mmHg or significant Gaucher related lung disease •History of allergy or sensitivity to the study drug or any excipients, including any prior serious allergic reaction to iminosugars (e.g., miglustat) •Screening period visit (Day -21 to Day -1) or Day 1 12-lead ECG demonstrating a QTc >450 msec for males or >470 msec for females, prior to dosing •Pacemaker or other contraindication for MRI scanning •Pregnant or breast-feeding •Current/recent drug or alcohol abuse •Treatment with any investigational product in the last 90 days before study entry •Treatment in the previous 90 days with any drug known to have a well defined potential for toxicity to a major organ •Presence or sequelae of gastrointestinal, liver or kidney disease, or other conditions known to interfere with the absorption, distribution, metabolism, or excretion of drugs •Subject is otherwise unsuitable for the study in the opinion of the Investigator
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E.5 End points |
E.5.1 | Primary end point(s) |
o Physical examination o Vital signs (blood pressure, heart rate, body temperature, respiratory rate) o Clinical laboratory tests (hematology, serum chemistry, urinalysis) o Electrocardiogram (ECG) o Adverse events o Changes in concomitant medications
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | No |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | No |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | Yes |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | Yes |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
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) | Yes |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | No |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | Yes |
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 | Yes |
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.8.3 |
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 | 2 |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 3 |
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 | Information not present in EudraCT |
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 |
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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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Last visit of the last subject. |
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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 | 0 |
E.8.9.1 | In the Member State concerned months | 12 |
E.8.9.1 | In the Member State concerned days | 0 |
E.8.9.2 | In all countries concerned by the trial years | 0 |
E.8.9.2 | In all countries concerned by the trial months | 12 |
E.8.9.2 | In all countries concerned by the trial days | 0 |