Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3

Study Overview
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Brief Summary
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This study is a longer-term follow-up study for patients who participated in one of the clinical trials: AAV - CNGB3 retinal gene therapy for patients with achromatopsia, or AAV - CNGA3 retinal gene therapy for patients with achromatopsia.

Detailed Description
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The follow up study is designed to collect data on longer-term safety and efficacy.

Official Title
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Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3 and AAV2/8-hG1.7p.coCNGA3) for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3 or CNGA3

Conditions
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Achromatopsia

Intervention / Treatment
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* Biological: either AAV - CNGB3 or AAV - CNGA3


Participation Criteria
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Eligibility Criteria
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Inclusion in the study will be limited to individuals who: Are able to give informed consent or assent, with or without the guidance of their parent(s)/guardian(s) where appropriate Received AAV2/8-hCARp.hCNGB3 or AAV2/8-hG1.7p.coCNGA3 by intraocular administration in the prior open-label, Phase I/II, dose escalation study (EudraCT 2016-002290-35 or EudraCT 2018-003431-29) Are willing to adhere to the protocol and long-term follow-up Individuals will be excluded who: Are unwilling or unable to meet with the requirements of the study

Ages Eligible for Study
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Minimum Age: 3 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Interventional Model Description: Follow-up of patients from two separate trials but there is no difference in follow-up assessments for the patients therefore they can be considered a single group
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Biological-Low dose of either AAV - CNGB3 or AAV - CNGA3<br>Subretinal administration of a single low dose of either AAV - CNGB3 or AAV - CNGA3 | Biological: either AAV - CNGB3 or AAV - CNGA3<br>* Comparison of different dosages of either AAV - CNGB3 or AAV - CNGA3<br>|
| Experimental: Biological-medium dose of either AAV - CNGB3 or AAV - CNGA3<br>Subretinal administration of a single medium dose of either AAV - CNGB3 or AAV - CNGA3 | Biological: either AAV - CNGB3 or AAV - CNGA3<br>* Comparison of different dosages of either AAV - CNGB3 or AAV - CNGA3<br>|
| Experimental: Biological-high dose of either AAV - CNGB3 or AAV - CNGA3<br>Subretinal administration of a single high dose of either AAV - CNGB3 or AAV - CNGA3 | Biological: either AAV - CNGB3 or AAV - CNGA3<br>* Comparison of different dosages of either AAV - CNGB3 or AAV - CNGA3<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incidence of Adverse Events related to the treatment | longer term safety as the absence of ATIMP-related safety events | 5 Years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Improvement in the visual function | Improvements in visual function as assessed by visual assessment | 5 years | 
| Improvement in retinal function | Improvement in the retinal function as assessed by visual assessment | 5 years | 
| Improvement in quality of life | Quality of life will be measured by QoL questionnaires | 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Achromatopsia, CNGB3, CNGA3