E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Adenosine deaminase (ADA) deficiency severe combined immunodeficiency |
Adenosina deaminasi grave combinata a immunodeficienza |
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E.1.1.1 | Medical condition in easily understood language |
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E.1.1.2 | Therapeutic area | Diseases [C] - Immune System Diseases [C20] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 20.1 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10066367 |
E.1.2 | Term | Adenosine deaminase deficiency |
E.1.2 | System Organ Class | 100000004850 |
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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 assess the accuracy and precision of SLiM-PCR methodology for RIS analysis using control insertion site DNA spiked into whole blood samples taken from patients treated with Strimvelis |
Stabilire l’accuratezza e la precisione della metodica SLiM-PCR per l’analisi RIS utilizzando siti di inserzione del DNA di controllo aggiunti a campioni di sangue intero provenienti da pazienti trattati con Strimvelis |
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E.2.2 | Secondary objectives of the trial |
Abundance & Diversity of insertion sites in patients treated with Strimvelis |
Abbondanza e diversità dei siti di inserzione nei pazienti trattati con Strimvelis |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
1. Male or female, paediatric or adult, patients with ADA-SCID, who have been previously treated with Strimvelis or GSK2696273 Informed Consent 2. Capable of giving signed informed consent as described in Appendix 2 which includes compliance with the requirements and restrictions listed in the informed consent form (ICF) and in this protocol. Or signed informed consent provided by the participant’s parent or legal guardian. |
1. Soggetti di sesso maschile o femminile, in età pediatrica o adulta, affetti da ADA-SCID, precedentemente trattati con Strimvelis/GSK2696273. Consenso informato 2. Soggetti in grado di fornire il proprio consenso informato in linea con quanto descritto nell’Appendice 2 del protocollo (soggetti adulti), che prevede di seguire quanto previsto/escluso nel modulo di consenso informato (CI) e nel protocollo in oggetto. In caso di soggetti pediatrici, il consenso deve invece essere firmato dai genitori/tutore legale. |
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E.4 | Principal exclusion criteria |
1. Presence of concomitant condition(s) that in the Investigator’s opinion makes participation in the study unsuitable or may prevent compliance with the protocol requirements. 2. Unlikely to comply with the requirements of the protocol (i.e. attendance for blood sampling on an approximately annual basis) 3. Transportation of viable samples to the EU central laboratory from the participant’s home country is not possible |
1. Presenza di una o più condizioni concomitanti che, a giudizio dello sperimentatore, li rendano inadatti alla partecipazione allo studio o che possano rendere il soggetto non compliante ai requisiti del protocollo. 2. Scarse probabilità di soddisfare i requisiti del protocollo (ad esempio il sottoporsi al prelievo di sangue con cadenza indicativamente annuale. 3. Impossibilità di trasportare i campioni del soggetto partecipante allo studio dal Suo paese di residenza al laboratorio centralizzato situato in UE. |
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E.5 End points |
E.5.1 | Primary end point(s) |
For subject samples spiked with known amounts of control insertion sites mean abundance and %CV will be calculated: •between subjects at every time point •within subjects over time points •between the same sample within a time point within a subject. |
Per i campioni modificati con quantità note di siti di inserzione di controllo si procederà al calcolo dell’abbondanza media e del % CV (Coefficiente di variazione): • inter-soggetto a ciascun timepoint • intra-soggetto da un timepoint all’altro • all’interno dello stesso campione in riferimento a un timepoint per singolo soggetto. |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
Samples will be taken approximately annually for 5 years. The study will include newly treated subjects for whom these samples will be taken approximately annually from 1-5 years relative to the treatment date |
I campioni saranno raccolti approssimativamente annualmente per 5 anni. Lo studio includerà inoltre soggetti appena trattati e per questi i campioni saranno raccolti all'incirca ogni anno da 1 (dopo 12 mesi) a 5 anni dalla data di trattamento |
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E.5.2 | Secondary end point(s) |
Clone abundance at each timepoint for each subject will be calculated and displayed. •Clones that demonstrate abundance >5% will be listed •Descriptive statistics (mean, % CV) on clones present >5% will be captured •Shannon Diversity Index •Descriptive statistics (% CV) will be captured |
L’abbondanza dei cloni sarà calcolata e descritta graficamente a ciascun timepoint per ogni soggetto. •Saranno elencati i cloni che evidenziano un’abbondanza >5% •Saranno prodotte statistiche descrittive (media, % CV) per i cloni con una presenza >5% •Indice di diversità di Shannon •Elaborazione di statistiche descrittive (% CV) |
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
Samples will be taken approximately annually for 5 years. The study will include newly treated subjects for whom these samples will be taken approximately annually from 1-5 years relative to the treatment date |
I campioni saranno raccolti approssimativamente annualmente per 5 anni. Lo studio includerà inoltre soggetti appena trattati e per questi i campioni saranno raccolti all'incirca ogni anno da 1 (dopo 12 mesi) a 5 anni dalla data di trattamento |
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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 | No |
E.6.5 | Efficacy | No |
E.6.6 | Pharmacokinetic | No |
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 |
Metodology study |
Studio di metodologia |
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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 | 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 | Yes |
E.8.1.7.1 | Other trial design description |
Studio di Metodologia |
Metodology study |
|
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
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.4.1 | Number of sites anticipated in Member State concerned | 1 |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 4 |
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 | 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 | 7 |
E.8.9.1 | In the Member State concerned months | 0 |
E.8.9.1 | In the Member State concerned days | 0 |
E.8.9.2 | In all countries concerned by the trial years | 7 |
E.8.9.2 | In all countries concerned by the trial months | 0 |
E.8.9.2 | In all countries concerned by the trial days | 0 |