Trial Outcomes & Findings for Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3 (NCT NCT03278873)
NCT ID: NCT03278873
Last Updated: 2025-06-11
Results Overview
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.
Recruitment status
TERMINATED
Target enrollment
34 participants
Primary outcome timeframe
5 Years
Results posted on
2025-06-11
Participant Flow
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.
Participant milestones
| Measure |
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.
|
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.
|
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.
|
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.
|
|---|---|---|---|---|
|
Overall Study
STARTED
|
6
|
15
|
3
|
10
|
|
Overall Study
COMPLETED
|
3
|
6
|
0
|
2
|
|
Overall Study
NOT COMPLETED
|
3
|
9
|
3
|
8
|
Reasons for withdrawal
| Measure |
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.
|
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.
|
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.
|
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.
|
|---|---|---|---|---|
|
Overall Study
Withdrawal by Subject
|
0
|
1
|
0
|
0
|
|
Overall Study
Sponsor's decision
|
0
|
1
|
0
|
0
|
|
Overall Study
Early Termination
|
2
|
6
|
0
|
4
|
|
Overall Study
Lost to Follow-up
|
0
|
0
|
2
|
0
|
|
Overall Study
The patient decided to withdraw via email
|
1
|
0
|
0
|
0
|
|
Overall Study
The patient was unresponsive to contact
|
0
|
0
|
0
|
4
|
|
Overall Study
The patient wished to participate no longer
|
0
|
1
|
0
|
0
|
|
Overall Study
Patient withdrew as they could no longer participate, as they had moved to Canada
|
0
|
0
|
1
|
0
|
Baseline Characteristics
Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3
Baseline characteristics by cohort
| Measure |
Low Dose AAV-CNGA3 or AAV-CNGB3
n=6 Participants
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=15 Participants
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.
|
Other Dose AAV-CNGA3 or AAV-CNGB3
n=3 Participants
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=10 Participants
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.
|
Total
n=34 Participants
Total of all reporting groups
|
|---|---|---|---|---|---|
|
Age, Categorical
<=18 years
|
3 Participants
n=5 Participants
|
11 Participants
n=7 Participants
|
3 Participants
n=5 Participants
|
5 Participants
n=4 Participants
|
22 Participants
n=21 Participants
|
|
Age, Categorical
Between 18 and 65 years
|
3 Participants
n=5 Participants
|
4 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
5 Participants
n=4 Participants
|
12 Participants
n=21 Participants
|
|
Age, Categorical
>=65 years
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=21 Participants
|
|
Sex: Female, Male
Female
|
3 Participants
n=5 Participants
|
10 Participants
n=7 Participants
|
3 Participants
n=5 Participants
|
4 Participants
n=4 Participants
|
20 Participants
n=21 Participants
|
|
Sex: Female, Male
Male
|
3 Participants
n=5 Participants
|
5 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
6 Participants
n=4 Participants
|
14 Participants
n=21 Participants
|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
2 Participants
n=4 Participants
|
2 Participants
n=21 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
6 Participants
n=5 Participants
|
15 Participants
n=7 Participants
|
3 Participants
n=5 Participants
|
8 Participants
n=4 Participants
|
32 Participants
n=21 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=21 Participants
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=21 Participants
|
|
Race (NIH/OMB)
Asian
|
2 Participants
n=5 Participants
|
1 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
2 Participants
n=4 Participants
|
5 Participants
n=21 Participants
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=21 Participants
|
|
Race (NIH/OMB)
Black or African American
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=21 Participants
|
|
Race (NIH/OMB)
White
|
4 Participants
n=5 Participants
|
14 Participants
n=7 Participants
|
3 Participants
n=5 Participants
|
8 Participants
n=4 Participants
|
29 Participants
n=21 Participants
|
|
Race (NIH/OMB)
More than one race
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=21 Participants
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=21 Participants
|
|
Region of Enrollment
United States
|
0 participants
n=5 Participants
|
1 participants
n=7 Participants
|
2 participants
n=5 Participants
|
2 participants
n=4 Participants
|
5 participants
n=21 Participants
|
|
Region of Enrollment
United Kingdom
|
6 participants
n=5 Participants
|
14 participants
n=7 Participants
|
1 participants
n=5 Participants
|
8 participants
n=4 Participants
|
29 participants
n=21 Participants
|
PRIMARY outcome
Timeframe: 5 YearsThe 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.
Outcome measures
| Measure |
Low Dose AAV-CNGA3 or AAV-CNGB3
n=6 Participants
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=15 Participants
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.
|
Other Dose AAV-CNGA3 or AAV-CNGB3
n=3 Participants
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=10 Participants
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.
|
|---|---|---|---|---|
|
Incidence of Adverse Events Related to the Treatment
|
1 Participants
|
2 Participants
|
0 Participants
|
0 Participants
|
SECONDARY outcome
Timeframe: 12 monthsPopulation: 32 of the 34 participants performed the visual acuity assessment at baseline and 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.
Outcome measures
| Measure |
Low Dose AAV-CNGA3 or AAV-CNGB3
n=6 Participants
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=15 Participants
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.
|
Other Dose AAV-CNGA3 or AAV-CNGB3
n=2 Participants
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=9 Participants
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.
|
|---|---|---|---|---|
|
Improvements in Visual Function as Assessed by Visual Acuity at Month 12
|
-0.6 Number of ETDRS letters
Interval -3.0 to 1.0
|
0.2 Number of ETDRS letters
Interval -5.0 to 4.0
|
3.5 Number of ETDRS letters
Interval 3.0 to 4.0
|
4.0 Number of ETDRS letters
Interval -3.0 to 9.0
|
SECONDARY outcome
Timeframe: 60 monthsPopulation: 16 of the 34 participants performed the visual acuity assessment at baseline and 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.
Outcome measures
| Measure |
Low Dose AAV-CNGA3 or AAV-CNGB3
n=4 Participants
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=8 Participants
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.
|
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=4 Participants
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.
|
|---|---|---|---|---|
|
Improvements in Visual Function as Assessed by Visual Acuity at Month 60
|
3.3 Number of ETDRS letters
Interval -4.0 to 7.0
|
0.1 Number of ETDRS letters
Interval -4.0 to 3.0
|
—
|
-0.3 Number of ETDRS letters
Interval -7.0 to 7.0
|
SECONDARY outcome
Timeframe: 12 monthsPopulation: 31 of the 34 participants had contrast sensitivity data available at both baseline and Month 12 in the treated eye.
Change from baseline to Month 12 in contrast sensitivity in the treated eye. The direction of improvement is an increase in sensitivity.
Outcome measures
| Measure |
Low Dose AAV-CNGA3 or AAV-CNGB3
n=6 Participants
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=14 Participants
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.
|
Other Dose AAV-CNGA3 or AAV-CNGB3
n=2 Participants
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=9 Participants
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.
|
|---|---|---|---|---|
|
Improvements in Retinal Function as Assessed by Static Perimetry at Month 12
|
-0.08 LogCS
Interval -0.3 to 0.2
|
-0.17 LogCS
Interval -0.4 to 0.1
|
0.12 LogCS
Interval 0.0 to 0.2
|
0.03 LogCS
Interval -0.2 to 0.3
|
SECONDARY outcome
Timeframe: 60 monthsPopulation: 15 of the 34 participants had contrast sensitivity data available at both baseline and Month 60 in the treated eye.
Change from baseline to Month 60 in contrast sensitivity in the treated eye. The direction of improvement is an increase in sensitivity.
Outcome measures
| Measure |
Low Dose AAV-CNGA3 or AAV-CNGB3
n=4 Participants
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=7 Participants
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.
|
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=4 Participants
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.
|
|---|---|---|---|---|
|
Improvements in Retinal Function as Assessed by Static Perimetry at Month 60
|
-0.19 LogCS
Interval -1.0 to 0.4
|
-0.11 LogCS
Interval -0.4 to 0.1
|
—
|
-0.12 LogCS
Interval -0.3 to 0.1
|
SECONDARY outcome
Timeframe: 12 monthsPopulation: 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.
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.
Outcome measures
| Measure |
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=8 Participants
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.
|
Other Dose AAV-CNGA3 or AAV-CNGB3
n=2 Participants
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=1 Participants
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.
|
|---|---|---|---|---|
|
Quality of Life at Month 12 Measured by QoL Questionnaires in Children and Adolescents
|
—
|
4.3 Units on a scale
Interval -6.0 to 19.0
|
9.5 Units on a scale
Interval 9.0 to 10.0
|
-12.0 Units on a scale
Interval -12.0 to -12.0
|
SECONDARY outcome
Timeframe: 60 monthsPopulation: 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.
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.
Outcome measures
| Measure |
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=2 Participants
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.
|
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.
|
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.
|
|---|---|---|---|---|
|
Quality of Life at Month 60 Measured by QoL Questionnaires in Children and Adolescents
|
—
|
0.0 Units on a scale
Interval -20.0 to 20.0
|
—
|
—
|
SECONDARY outcome
Timeframe: 12 monthsPopulation: 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.
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.
Outcome measures
| Measure |
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.
|
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.
|
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=2 Participants
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.
|
|---|---|---|---|---|
|
Quality of Life at Month 12 Measured by QoL Questionnaires in Adults
|
—
|
—
|
—
|
0.5 Units on a scale
Interval 0.0 to 1.0
|
SECONDARY outcome
Timeframe: 60 monthsPopulation: 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.
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.
Outcome measures
| Measure |
Low Dose AAV-CNGA3 or AAV-CNGB3
n=1 Participants
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.
|
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.
|
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.
|
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.
|
|---|---|---|---|---|
|
Quality of Life at Month 60 Measured by QoL Questionnaires in Adults
|
0.0 Units on a scale
Interval 0.0 to 0.0
|
—
|
—
|
—
|
Adverse Events
Low Dose AAV-CNGA3 or AAV-CNGB3
Serious events: 0 serious events
Other events: 1 other events
Deaths: 0 deaths
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
Serious events: 1 serious events
Other events: 4 other events
Deaths: 0 deaths
Other Dose AAV-CNGA3 or AAV-CNGB3
Serious events: 0 serious events
Other events: 3 other events
Deaths: 0 deaths
High Dose AAV-CNGA3 or AAV-CNGB3
Serious events: 1 serious events
Other events: 2 other events
Deaths: 0 deaths
Total
Serious events: 2 serious events
Other events: 10 other events
Deaths: 0 deaths
Serious adverse events
| Measure |
Low Dose AAV-CNGA3 or AAV-CNGB3
n=6 participants at risk
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=15 participants at risk
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.
|
Other Dose AAV-CNGA3 or AAV-CNGB3
n=3 participants at risk
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=10 participants at risk
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.
|
Total
n=34 participants at risk
Safety Analysis Set
|
|---|---|---|---|---|---|
|
Eye disorders
Retinal detachment
|
0.00%
0/6 • 5 years
|
6.7%
1/15 • 5 years
|
0.00%
0/3 • 5 years
|
0.00%
0/10 • 5 years
|
2.9%
1/34 • 5 years
|
|
Respiratory, thoracic and mediastinal disorders
Pneumothorax
|
0.00%
0/6 • 5 years
|
0.00%
0/15 • 5 years
|
0.00%
0/3 • 5 years
|
10.0%
1/10 • 5 years
|
2.9%
1/34 • 5 years
|
Other adverse events
| Measure |
Low Dose AAV-CNGA3 or AAV-CNGB3
n=6 participants at risk
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.
|
Intermediate Dose AAV-CNGA3 or AAV-CNGB3
n=15 participants at risk
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.
|
Other Dose AAV-CNGA3 or AAV-CNGB3
n=3 participants at risk
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.
|
High Dose AAV-CNGA3 or AAV-CNGB3
n=10 participants at risk
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.
|
Total
n=34 participants at risk
Safety Analysis Set
|
|---|---|---|---|---|---|
|
Eye disorders
Vision blurred
|
0.00%
0/6 • 5 years
|
13.3%
2/15 • 5 years
|
0.00%
0/3 • 5 years
|
10.0%
1/10 • 5 years
|
8.8%
3/34 • 5 years
|
|
Eye disorders
Dry eye
|
0.00%
0/6 • 5 years
|
13.3%
2/15 • 5 years
|
0.00%
0/3 • 5 years
|
0.00%
0/10 • 5 years
|
5.9%
2/34 • 5 years
|
|
Infections and infestations
influenza
|
0.00%
0/6 • 5 years
|
6.7%
1/15 • 5 years
|
66.7%
2/3 • 5 years
|
0.00%
0/10 • 5 years
|
8.8%
3/34 • 5 years
|
|
Infections and infestations
COVID-19
|
0.00%
0/6 • 5 years
|
6.7%
1/15 • 5 years
|
0.00%
0/3 • 5 years
|
10.0%
1/10 • 5 years
|
5.9%
2/34 • 5 years
|
|
Infections and infestations
Nasopharyngitis
|
0.00%
0/6 • 5 years
|
6.7%
1/15 • 5 years
|
33.3%
1/3 • 5 years
|
0.00%
0/10 • 5 years
|
5.9%
2/34 • 5 years
|
|
Nervous system disorders
Headache
|
16.7%
1/6 • 5 years
|
6.7%
1/15 • 5 years
|
0.00%
0/3 • 5 years
|
0.00%
0/10 • 5 years
|
5.9%
2/34 • 5 years
|
Additional Information
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place