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| ID | Type | Description | Link |
|---|---|---|---|
| 2016-003856-59 | EudraCT Number |
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Strategic decision to not further develop AAV8-hCARp.hCNGB3 and AAV8-hG1.7p.coCNGA3. The decision is not due to safety concerns.
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This is a longer-term follow-up study of patients with achromatopsia associated with defects in CNGA3 who participated in a clinical trial in which they received AAV-CNGA3 retinal gene therapy, or of patients with achromatopsia associated with defects in CNGB3 who participated in a clinical trial in which they received AAV-CNGB3 retinal gene therapy.
The follow-up study is designed to collect data on the longer-term safety and efficacy of AAV-CNGA3 retinal gene therapy and AAV-CNGB3 retinal gene therapy.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Low dose of AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single low dose of AAV-CNGA3 or AAV-CNGB3 |
| |
| Intermediate dose of AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single intermediate dose of AAV-CNGA3 or AAV-CNGB3 |
| |
| Other dose of AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single other dose (between the intermediate and high dose) of AAV-CNGA3 or AAV-CNGB3 |
| |
| High dose of AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single high dose of AAV-CNGA3 or AAV-CNGB3 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Prior exposure to AAV-CNGA3 or AAV-CNGB3 | Biological | Participants previously received AAV-CNGA3 or AAV-CNGB3 in an open-label, Phase 1/2 dose escalation trial for adults and children with achromatopsia owing to defects in CNGA3 or CNGB3, respectively. |
| Measure | Description | Time Frame |
|---|---|---|
| Incidence of Adverse Events Related to the Treatment | The primary outcome measure is the longer-term safety of treatment with AAV-CNGA3 or AAV-CNGB3, assessed by the absence of IMP-related adverse events. | 5 Years |
| Measure | Description | Time Frame |
|---|---|---|
| Improvements in Visual Function as Assessed by Visual Acuity at Month 12 | Change from baseline to Month 12 in best corrected visual acuity (BCVA) using Early Treatment Diabetic Retinopathy Study (ETDRS) chart letter score in the treated eye. The direction of improvement from baseline is an increase in the number of ETDRS letters read over time. | 12 months |
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Inclusion in the study will be limited to individuals who:
Individuals will be excluded who:
Are unwilling or unable to meet the requirements of the study
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The study population are adults and children with achromatopsia resulting from mutations in CNGA3 or CNGB3.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Kellogg Eye Center | Ann Arbor | Michigan | 48105 | United States | ||
| Moorfields Eye Hospital NHS Foundation Trust |
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Participants were recruited from medical centers in the United Kingdom (UK) and the United States (US). A total of 34 participants were enrolled in the study.
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| ID | Title | Description |
|---|---|---|
| FG000 | Low Dose of AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single low dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| FG001 | Intermediate Dose of AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single intermediate dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| FG002 | Other Dose of AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single other dose (between the intermediate and high dose) of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| FG003 | High Dose of AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single high dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| Title | Milestones | Reasons Not Completed | ||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Low Dose AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single low dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| BG001 | Intermediate Dose AAV-CNGA3 or AAV-CNGB3 |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Incidence of Adverse Events Related to the Treatment | The primary outcome measure is the longer-term safety of treatment with AAV-CNGA3 or AAV-CNGB3, assessed by the absence of IMP-related adverse events. | Posted | Count of Participants | Participants | 5 Years |
|
5 years
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Low Dose AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single low dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Retinal detachment | Eye disorders | Systematic Assessment |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Vision blurred | Eye disorders | Systematic Assessment |
Upon agreement with the FDA, the study was prematurely terminated in March 2024. Therefore, the Month 60 data are not available for all participants.
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Program Manager | MeiraGTx | 0044 (0)20 3866 4320 | ocularinfo@meiragtx.com |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Dec 3, 2021 | May 12, 2025 | Prot_000.pdf |
| SAP | No | Yes | No | Statistical Analysis Plan | Aug 22, 2024 | May 12, 2025 | SAP_001.pdf |
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| ID | Term |
|---|---|
| D003117 | Color Vision Defects |
| ID | Term |
|---|---|
| D014786 | Vision Disorders |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| Improvements in Visual Function as Assessed by Visual Acuity at Month 60 | Change from baseline to Month 60 in best corrected visual acuity (BCVA) using Early Treatment Diabetic Retinopathy Study (ETDRS) chart letter score in the treated eye. The direction of improvement from baseline is an increase in the number of ETDRS letters read over time. | 60 months |
| Improvements in Retinal Function as Assessed by Static Perimetry at Month 12 | Change from baseline to Month 12 in contrast sensitivity in the treated eye. The direction of improvement is an increase in sensitivity. | 12 months |
| Improvements in Retinal Function as Assessed by Static Perimetry at Month 60 | Change from baseline to Month 60 in contrast sensitivity in the treated eye. The direction of improvement is an increase in sensitivity. | 60 months |
| Quality of Life at Month 12 Measured by QoL Questionnaires in Children and Adolescents | Change from baseline to Month 12 in EuroQol-5D-Y Visual Analogue Scale (EQ-VAS) in children and adolescents. EQ-VAS uses a scale from 0 to 100, where 0 represents the worst imaginable health state and 100 represents the best imaginable health state. A positive change from baseline reflects improvement, and a negative change from baseline reflects worsening. | 12 months |
| Quality of Life at Month 60 Measured by QoL Questionnaires in Children and Adolescents | Change from baseline to Month 60 in EuroQol-5D-Y Visual Analogue Scale (EQ-VAS) in children and adolescents. EQ-VAS uses a scale from 0 to 100, where 0 represents the worst imaginable health state and 100 represents the best imaginable health state. A positive change from baseline reflects improvement, and a negative change from baseline reflects worsening. | 60 months |
| Quality of Life at Month 12 Measured by QoL Questionnaires in Adults | Change from baseline to Month 12 in EuroQol-5D-5L Visual Analogue Scale (EQ-VAS) in adults. EQ-VAS uses a scale from 0 to 100, where 0 represents the worst imaginable health state and 100 represents the best imaginable health state. A positive change from baseline reflects improvement, and a negative change from baseline reflects worsening. | 12 months |
| Quality of Life at Month 60 Measured by QoL Questionnaires in Adults | Change from baseline to Month 60 in EuroQol-5D-5L Visual Analogue Scale (EQ-VAS) in adults. EQ-VAS uses a scale from 0 to 100, where 0 represents the worst imaginable health state and 100 represents the best imaginable health state. A positive change from baseline reflects improvement, and a negative change from baseline reflects worsening. | 60 months |
| London |
| United Kingdom |
| Sponsor's decision |
|
| Early Termination |
|
| Lost to Follow-up |
|
| The patient decided to withdraw via email |
|
| The patient was unresponsive to contact |
|
| The patient wished to participate no longer |
|
| Patient withdrew as they could no longer participate, as they had moved to Canada |
|
Subretinal administration of a single intermediate dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| BG002 | Other Dose AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single other dose (between the intermediate and high dose) of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| BG003 | High Dose AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single high dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| BG004 | Total | Total of all reporting groups |
| Participants |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
| OG002 | Other Dose AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single other dose (between the intermediate and high dose) of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
| OG003 | High Dose AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single high dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. |
|
|
| Secondary | Improvements in Visual Function as Assessed by Visual Acuity at Month 12 | Change from baseline to Month 12 in best corrected visual acuity (BCVA) using Early Treatment Diabetic Retinopathy Study (ETDRS) chart letter score in the treated eye. The direction of improvement from baseline is an increase in the number of ETDRS letters read over time. | 32 of the 34 participants performed the visual acuity assessment at baseline and Month 12. | Posted | Mean | Full Range | Number of ETDRS letters | 12 months |
|
|
|
| Secondary | Improvements in Visual Function as Assessed by Visual Acuity at Month 60 | Change from baseline to Month 60 in best corrected visual acuity (BCVA) using Early Treatment Diabetic Retinopathy Study (ETDRS) chart letter score in the treated eye. The direction of improvement from baseline is an increase in the number of ETDRS letters read over time. | 16 of the 34 participants performed the visual acuity assessment at baseline and Month 60. | Posted | Mean | Full Range | Number of ETDRS letters | 60 months |
|
|
|
| Secondary | Improvements in Retinal Function as Assessed by Static Perimetry at Month 12 | Change from baseline to Month 12 in contrast sensitivity in the treated eye. The direction of improvement is an increase in sensitivity. | 31 of the 34 participants had contrast sensitivity data available at both baseline and Month 12 in the treated eye. | Posted | Mean | Full Range | LogCS | 12 months |
|
|
|
| Secondary | Improvements in Retinal Function as Assessed by Static Perimetry at Month 60 | Change from baseline to Month 60 in contrast sensitivity in the treated eye. The direction of improvement is an increase in sensitivity. | 15 of the 34 participants had contrast sensitivity data available at both baseline and Month 60 in the treated eye. | Posted | Mean | Full Range | LogCS | 60 months |
|
|
|
| Secondary | Quality of Life at Month 12 Measured by QoL Questionnaires in Children and Adolescents | Change from baseline to Month 12 in EuroQol-5D-Y Visual Analogue Scale (EQ-VAS) in children and adolescents. EQ-VAS uses a scale from 0 to 100, where 0 represents the worst imaginable health state and 100 represents the best imaginable health state. A positive change from baseline reflects improvement, and a negative change from baseline reflects worsening. | Eleven pediatric participants had EuroQol-5D-Y EQ-VAS data available at both baseline and Month 12. For this study outcome, pediatric participants are participants aged <16 years in the UK and aged <18 years in the US. | Posted | Mean | Full Range | Units on a scale | 12 months |
|
|
|
| Secondary | Quality of Life at Month 60 Measured by QoL Questionnaires in Children and Adolescents | Change from baseline to Month 60 in EuroQol-5D-Y Visual Analogue Scale (EQ-VAS) in children and adolescents. EQ-VAS uses a scale from 0 to 100, where 0 represents the worst imaginable health state and 100 represents the best imaginable health state. A positive change from baseline reflects improvement, and a negative change from baseline reflects worsening. | Two pediatric participants had EuroQol-5D-Y EQ-VAS data available at both baseline and Month 60. For this study outcome, pediatric participants are participants aged <16 years in the UK and aged <18 years in the US. | Posted | Mean | Full Range | Units on a scale | 60 months |
|
|
|
| Secondary | Quality of Life at Month 12 Measured by QoL Questionnaires in Adults | Change from baseline to Month 12 in EuroQol-5D-5L Visual Analogue Scale (EQ-VAS) in adults. EQ-VAS uses a scale from 0 to 100, where 0 represents the worst imaginable health state and 100 represents the best imaginable health state. A positive change from baseline reflects improvement, and a negative change from baseline reflects worsening. | Two adult participants had EuroQol-5D-5L EQ-VAS data available at both baseline and Month 12. For this study outcome, adults are participants aged ≥16 years in the UK and aged ≥18 years in the US. | Posted | Mean | Full Range | Units on a scale | 12 months |
|
|
|
| Secondary | Quality of Life at Month 60 Measured by QoL Questionnaires in Adults | Change from baseline to Month 60 in EuroQol-5D-5L Visual Analogue Scale (EQ-VAS) in adults. EQ-VAS uses a scale from 0 to 100, where 0 represents the worst imaginable health state and 100 represents the best imaginable health state. A positive change from baseline reflects improvement, and a negative change from baseline reflects worsening. | One adult participant had EuroQol-5D-5L EQ-VAS data available at both baseline and Month 60. For this study outcome, adults are participants aged ≥16 years in the UK and aged ≥18 years in the US. | Posted | Mean | Full Range | Units on a scale | 60 months |
|
|
|
| 0 |
| 6 |
| 0 |
| 6 |
| 1 |
| 6 |
| EG001 | Intermediate Dose AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single intermediate dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. | 0 | 15 | 1 | 15 | 4 | 15 |
| EG002 | Other Dose AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single other dose (between the intermediate and high dose) of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. | 0 | 3 | 0 | 3 | 3 | 3 |
| EG003 | High Dose AAV-CNGA3 or AAV-CNGB3 | Subretinal administration of a single high dose of adeno-associated virus AAV-CNGA3 or AAV-CNGB3 AAV gene therapy for defects in the CNGA3 or CNGB3 gene, respectively. | 0 | 10 | 1 | 10 | 2 | 10 |
| EG004 | Total | Safety Analysis Set | 0 | 34 | 2 | 34 | 10 | 34 |
| Pneumothorax | Respiratory, thoracic and mediastinal disorders | Systematic Assessment |
|
| Dry eye | Eye disorders | Systematic Assessment |
|
| influenza | Infections and infestations | Systematic Assessment |
|
| COVID-19 | Infections and infestations | Systematic Assessment |
|
| Nasopharyngitis | Infections and infestations | Systematic Assessment |
|
| Headache | Nervous system disorders | Systematic Assessment |
|
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| D000077765 |
| Cone Dystrophy |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |