E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Patients with Ataxia-Teleangectasia (AT) |
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MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 9.1 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10003594 |
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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 |
• To evaluate the improvement in central nervous system (CNS) symptoms measured by International Co-operative Ataxia Rating Scale (ICARS) in patients with Ataxia-Teleangectasia (AT), during a period of treatment ERY-DEX (dexamethasone sodium phosphate ex vivo encapsulated into human autologous erythrocytes). |
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E.2.2 | Secondary objectives of the trial |
• To evaluate the effect of ERY-DEX on Treatment-Emergent Adverse Events (TEAEs), including SAEs and laboratory parameters • To evaluate the effect of ERY-DEX on global health status of the patient by an Investigator Global Assessment • To evaluate the effect of ERY-DEX on ocular motility measured by an ad hoc form • To evaluate the effect of ERY-DEX on adaptive behaviour measured by the Vineland Adaptive Behavior Scale (VABS) • To evaluate the effect of ERY-DEX on special laboratory parameters • To evaluate the pharmacokinetic (PK) profile of dexamethasone sodium phosphate administered through ERY-DEX (in a sub-set of patients) |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
• Neurological signs of AT (un-coordination of the head and eyes in lateral gaze deflection, gait ataxia associated with an inappropriately narrow base) • Patients in autonomous gait or helped by a support • Proven molecular diagnosis of AT (at least one ATM mutation) and/or ATM protein deficiency by Western blot • Males and females aged >3 years • Body weight > 15 Kg • Plasma levels of CD4+ lymphocytes/mm3 ≥500 (for patients aged 3-6 years) or ≥200 (for patients older than 6 years) • Written informed consent to participate from the patient or from the parents (or from a legal acceptable representative), if able or not to understand the aims of the trial, respectively |
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E.4 | Principal exclusion criteria |
• Current or previous neoplastic disease • History of severe impairment of the immunological system • Chronic conditions representing a contraindication to the use of steroid drugs • Noncompliance with the study request • Have participated in any other investigational trial within 30 days from Screening Period • Any previous steroid assumption within 30 days before starting ERY-DEX • Have any other significant disease that in the Investigator’s opinion would exclude the patient from the trial • Females of childbearing potential who are pregnant, breast-feeding or are not using adequate contraceptive methods |
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E.5 End points |
E.5.1 | Primary end point(s) |
The aim of the study is to measure ICARS improvement after six months of treatment with dexamethasone sodium phosphate |
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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 | Yes |
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 | 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 | No |
E.8.1.2 | Open | No |
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) | Information not present in EudraCT |
E.8.2.2 | Placebo | Information not present in EudraCT |
E.8.2.3 | Other | Information not present in EudraCT |
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 | 3 |
E.8.5 | The trial involves multiple Member States | No |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | No |
E.8.6.2 | Trial being conducted completely outside of the EEA | Information not present in EudraCT |
E.8.7 | Trial has a data monitoring committee | No |
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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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 | 10 |
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 | 10 |
E.8.9.2 | In all countries concerned by the trial days | 0 |