E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Choroideremia (CHM) X-Linked Retinitis Pigmentosa (XLRP) |
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E.1.1.1 | Medical condition in easily understood language |
Choroideremia (CHM) X-Linked Retinitis Pigmentosa (XLRP) |
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E.1.1.2 | Therapeutic area | Diseases [C] - Eye Diseases [C11] |
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 | 10008791 |
E.1.2 | Term | Choroideremia |
E.1.2 | System Organ Class | 100000004853 |
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E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 20.0 |
E.1.2 | Level | PT |
E.1.2 | Classification code | 10038914 |
E.1.2 | Term | Retinitis pigmentosa |
E.1.2 | System Organ Class | 10010331 - Congenital, familial and genetic disorders |
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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 long-term safety and efficacy of a sub retinal injection of: • AAV2-REP1 in participants with CHM who have been previously treated with AAV2-REP1 and who have exited an antecedent study; these treated participants will be compared with untreated control participants who have exited the STAR study. • AAV8-RPGR in participants with XLRP who have been previously treated with AAV8-RPGR and who have exited an antecedent study. |
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E.2.2 | Secondary objectives of the trial |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
CHM Participants: a. Are willing and able to give informed consent for participation in the study, and b. Have participated in and exited from an interventional study that investigated the safety and efficacy of a sub-retinal injection of AAV2-REP1 for CHM XLRP Participants: a. Are willing and able to give informed consent for participation in the study b. Have received a sub-retinal injection of AAV8-RPGR for XLRP and have exited an antecedent study |
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E.4 | Principal exclusion criteria |
In the opinion of the investigator and/or the Sponsor, it is not in the participant’s best interest to participate in the study. |
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E.5 End points |
E.5.1 | Primary end point(s) |
The primary endpoint of this study is safety of AAV2-REP1 and AAV8-RPGR, which will be evaluated through adverse event (AE) reporting and full ophthalmic examinations. Datasets from the 2 disease populations will be analyzed separately. |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
Safety assessments will be performed as per protocol |
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E.5.2 | Secondary end point(s) |
• Change from Baseline in best-corrected visual acuity (BCVA) as measured by the Early Treatment of Diabetic Retinopathy Study (ETDRS) chart • Proportion of participants with no decrease from Baseline in BCVA or a decrease from Baseline in BCVA of <5 ETDRS letters (in CHM subjects only) • Proportion of participants with an increase from Baseline in BCVA of ≥10 ETDRS letters (in CHM subjects only) • Proportion of participants with an increase from Baseline in BCVA of ≥15 ETDRS letters (in CHM subjects only) • Available assessments of fundus autofluorescence at each visit • Available assessments of fundus photography at each visit • Available assessments of spectral-domain optical coherence tomography (SD-OCT) at each visit • Available assessments of microperimetry at each visit • Change from Baseline in the 25-Item Visual Function Questionnaire (VFQ-25) • Change from Baseline in visual field (in AAV8-RPGR-treated participants only) • Proportion of participants with an increase from Baseline in low luminance visual acuity (LLVA) of ≥10 ETDRS letters (in AAV8-RPGR-treated participants only) • Proportion of participants with an increase from Baseline in LLVA of ≥15 ETDRS letters (in AAV8-RPGR-treated participants only)
Datasets from the 2 disease populations will be analyzed separately. |
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
Visual assessments will be performed as per protocol |
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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 | Yes |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | Yes |
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 | 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) | No |
E.7.3 | Therapeutic confirmatory (Phase III) | Yes |
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 | Yes |
E.8.1.7.1 | Other trial design description |
Long term Efficacy and Safety follow-up. No administration of treatment included |
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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
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 6 |
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 |
Brazil |
Canada |
United Kingdom |
United States |
Denmark |
Finland |
France |
Germany |
Netherlands |
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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 | 6 |
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 | 6 |
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 |