Trial Outcomes & Findings for Natural History Study in Subjects With Usher Syndrome (NCT NCT03814499)

Results Overview

Change (from Baseline) in Best Corrected Visual acuity (BCVA) in the better-seeing eyes. BCVA in the better seeing eyes was assessed using the ETRS score (minimum value 0 and maximum value 100, with 0 representing the worst, and 100 the best visual functioning). The results are reported as the change in ETDRS score collected at the 1 year follow-up visit compared with the score at the baseline visit.

Recruitment status

COMPLETED

Target enrollment

56 participants

Primary outcome timeframe

1 year follow up visit

Results posted on

2024-12-09

Participant Flow

53 subjects meeting the inclusion/exclusion criteria were enrolled in the 18-month recruitment period.

Participant milestones

Participant milestones
Measure	Group of Subjects With Usher Syndrome Type 1B In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
Overall Study STARTED	53
Overall Study COMPLETED	50
Overall Study NOT COMPLETED	3

Reasons for withdrawal

Reasons for withdrawal
Measure	Group of Subjects With Usher Syndrome Type 1B In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
Overall Study Lost to Follow-up	3

Baseline Characteristics

As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Group of Subjects With Usher Syndrome Type 1B n=53 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
Age, Categorical <=18 years	11 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Age, Categorical Between 18 and 65 years	39 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Age, Categorical >=65 years	3 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Age, Continuous	33.6 years STANDARD_DEVIATION 16.7 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Sex: Female, Male Female	23 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Sex: Female, Male Male	30 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Race (NIH/OMB) Asian	0 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Race (NIH/OMB) Black or African American	0 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Race (NIH/OMB) White	53 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Race (NIH/OMB) More than one race	0 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
Region of Enrollment Netherlands	8 participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion/exclusion criteria.
Region of Enrollment Italy	29 participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion/exclusion criteria.
Region of Enrollment Spain	16 participants n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion/exclusion criteria.
BCVA - better seeing eyes	66.4 ETDRS Score STANDARD_DEVIATION 17.9 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion/exclusion criteria.
III4e Area - better seeing eyes	3365.8 Degree Squared STANDARD_DEVIATION 4142.1 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
V4e Area - better seeing eyes	5605.2 Degree squared STANDARD_DEVIATION 5290.2 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
MS - better seeing eyes	9.7 Decibels STANDARD_DEVIATION 9.9 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
CMT - better seeing eyes	259.6 Micrometers STANDARD_DEVIATION 63 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
EZ Band Horizontal - better seeing eyes	2807.5 Micrometers STANDARD_DEVIATION 2374.6 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
EZ Band Vertical - better seeing eyes	2436.1 Micrometers STANDARD_DEVIATION 2286.4 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
BCVA - worse seeing eyes	59.5 ETDRS score STANDARD_DEVIATION 21.7 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
III4e Area - worse seeing eyes	4176.4 Degree squared STANDARD_DEVIATION 4400.3 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
V4e Area - worse seeing eyes	5613.22 Degree squared STANDARD_DEVIATION 5127.2 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
MS - worse seeing eyes	9 Decibels STANDARD_DEVIATION 10.2 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
CMT - worse seeing eyes	250.7 Micrometers STANDARD_DEVIATION 63.3 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
EZ Hor. - worse seeing eyes	2615.5 Micrometers STANDARD_DEVIATION 2370.4 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.
EZ Vert. - worse seeing eyes	2332.4 Micrometers STANDARD_DEVIATION 666.5 • n=5 Participants • As mentioned before, 61 patients were screened, but 53 patients were considered for analyses because 8 patients did not meet the inclusion criteria.

PRIMARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visit

Change (from Baseline) in Best Corrected Visual acuity (BCVA) in the better-seeing eyes. BCVA in the better seeing eyes was assessed using the ETRS score (minimum value 0 and maximum value 100, with 0 representing the worst, and 100 the best visual functioning). The results are reported as the change in ETDRS score collected at the 1 year follow-up visit compared with the score at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
BCVA - Better Seeing Eyes	-2.26 ETDRS score Standard Deviation 3.838

PRIMARY outcome

Timeframe: 2 year follow up visit

Population: patients undergoing two-year follow-up visit

Change (from Baseline) in Best Corrected Visual acuity (BCVA) in the better-seeing eyes. BCVA in the better seeing eyes was assessed using the ETRS score (minimum value 0 and maximum value 100, with 0 representing the worst, and 100 the best visual functioning). The results are reported as the change in ETDRS score collected at the 2 year follow-up visit compared with the score at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
BCVA - Better Seeing Eyes	-1.468 ETDRS score Standard Deviation 4.999

PRIMARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in visual field area using III4e stimulus size in the better seeing eyes. Visual field area using III4e stimulus size in the better seeing eyes is expressed in degree squared (minimum value 0, maximum value 20000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
III4e Area - Better Seeing Eyes	561.966 degree squared Standard Deviation 2043.612

PRIMARY outcome

Timeframe: 2 year follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in visual field area using III4e stimulus size in the better seeing eyes. Visual field area using III4e stimulus size in the better seeing eyes is expressed in degree squared (minimum value 0, maximum value 20000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
III4e Area - Better Seeing Eyes	70.286 degree squared Standard Deviation 1451.128

PRIMARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in visual field area using V4e stimulus size in the better seeing eyes. Visual field area using V4e stimulus size in the better seeing eyes is expressed in degree squared (minimum value 0, maximum value 20000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
V4e Area - Better Seeing Eyes	273.309 degree squared Standard Deviation 2432.785

PRIMARY outcome

Timeframe: 2 year follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in visual field area using V4e stimulus size in the better seeing eyes. Visual field area using V4e stimulus size in the better seeing eyes is expressed in degree squared (minimum value 0, maximum value 20000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
V4e Area - Better Seeing Eyes	700.245 degree squared Standard Deviation 3942.6

PRIMARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in Best Corrected Visual acuity (BCVA) in the worse seeing eyes. BCVA in the worse seeing eyes was assessed using the ETRS score (minimum value 0 and maximum value 100, with 0 representing the worst, and 100 the best visual functioning). The results are reported as the change in the ETDRS score collected at the 1 year follow-up visit compared with the score at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
BCVA - Worse Seeing Eyes	-0.625 ETDRS score Standard Deviation 5.35

PRIMARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in Best Corrected Visual acuity in the worse seeing eyes. Best corrected visual acuity in the worse seeing eyes was assessed using the ETRS score (minimum value 0 and maximum value 100, with 0 representing the worst, and 100 the best visual functioning). The results are reported as the change in the ETDRS score collected at the 2 year follow-up visit compared with the score at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
BCVA - Worse Seeing Eyes	-0.909 ETDRS score Standard Deviation 7.041

PRIMARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in visual field area using III4e stimulus size in the worse-seeing eyes. Visual field area using III4e stimulus size in the worse-seeing eyes is expressed in degree squared (minimum value 0, maximum value 20000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
III4e Area - Worse Seeing Eyes	-445.569 degree squared Standard Deviation 2920.491

PRIMARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in visual field area using III4e stimulus size in the worse-seeing eyes. Visual field area using III4e stimulus size in the worse-seeing eyes is expressed in degree squared (minimum value 0, maximum value 20000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
III4e Area - Worse Seeing Eyes	-407.928 degree squared Standard Deviation 3209.147

PRIMARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in visual field area using V4e stimulus size in the worse-seeing eyes. Visual field area using V4e stimulus size in the worse-seeing eyes is expressed in degree squared (minimum value 0, maximum value 20000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
V4e Area - Worse Seeing Eyes	391.212 degree squared Standard Deviation 2726.331

PRIMARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in visual field area using V4e stimulus size in the worse-seeing eyes. Visual field area using V4e stimulus size in the worse-seeing eyes is expressed in degree squared (minimum value 0, maximum value 20000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
V4e Area - Worse Seeing Eyes	610.017 degree squared Standard Deviation 5658.524

SECONDARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in macular sensitivity, assessed by microperimetry, in the better-seeing eyes. Macular sensitivity, assessed by microperimetry is expressed in decibels (minimum value 0, maximum value 30). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
MS - Better Seeing Eyes	0.137 decibels Standard Deviation 2.89

SECONDARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in macular sensitivity, assessed by microperimetry, in the better-seeing eyes. Macular sensitivity, assessed by microperimetry is expressed in decibels (minimum value 0, maximum value 30). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
MS - Better Seeing Eyes	-0.315 decibels Standard Deviation 7.174

SECONDARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in Central Macular Thickness (CMT), evaluated with Optical Coherence tomography, in the better-seeing eyes. CMT was reported in micrometers (minimum value 0, maximum value 1000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
CMT - Better Seeing Eyes	7 micrometers Standard Deviation 21.532

SECONDARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in Central Macular Thickness (CMT), evaluated with Optical Coherence tomography, in the better-seeing eyes. CMT was reported in micrometers (minimum value 0, maximum value 1000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
CMT - Better Seeing Eyes	-5.667 micrometers Standard Deviation 18.877

SECONDARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in Ellipsoid Zone Band Width, evaluated with Optical Coherence tomography (horizontal scan), in the better-seeing eyes. EZ Band Horizontal is reported in micrometers (minimum value 0, maximum value 4000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
EZ Band Horizontal - Better Seeing Eyes	-42.795 micrometers Standard Deviation 324.893

SECONDARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in Ellipsoid Zone Band Width, evaluated with Optical Coherence tomography (horizontal scan), in the better-seeing eyes. EZ Band Horizontal is reported in micrometers (minimum value 0, maximum value 4000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
EZ Band Horizontal - Better Seeing Eyes	-160.556 micrometers Standard Deviation 628.761

SECONDARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in Ellipsoid Zone Band Width, evaluated with Optical Coherence tomography (Vertical scan), in the better-seeing eyes. EZ Band Vertical is reported in micrometers (minimum value 0, maximum value 4000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
EZ Band Vertical - Better Seeing Eyes	-289.75 micrometers Standard Deviation 1107.784

SECONDARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in Ellipsoid Zone Band Width, evaluated with Optical Coherence tomography (Vertical scan), in the better-seeing eyes. EZ Band Vertical is reported in micrometers (minimum value 0, maximum value 4000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
EZ Band Vertical - Better Seeing Eyes	190.553 micrometers Standard Deviation 1276.729

SECONDARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in macular sensitivity, assessed by microperimetry, in the worse-seeing eyes. Macular sensitivity, assessed by microperimetry is expressed in decibels (minimum value 0, maximum value 30). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
MS - Worse Seeing Eyes	-0.056 decibels Standard Deviation 3.279

SECONDARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in macular sensitivity, assessed by microperimetry, in the worse-seeing eyes. Macular sensitivity, assessed by microperimetry is expressed in decibels (minimum value 0, maximum value 30). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
MS - Worse Seeing Eyes	-0.758 decibels Standard Deviation 7.062

SECONDARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in Central Macular Thickness (CMT), evaluated with Optical Coherence tomography, in the worse-seeing eyes. CMT is expressed in micrometers (minimum value 0, maximum value 1000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
CMT - Worse Seeing Eyes	4.786 micrometers Standard Deviation 15.682

SECONDARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in Central Macular Thickness, evaluated with Optical Coherence tomography, in the worse-seeing eyes. CMT is expressed in micrometers (minimum value 0, maximum value 1000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
CMT - Worse Seeing Eyes	-2.026 micrometers Standard Deviation 22.358

SECONDARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in Ellipsoid Zone Band Width, evaluated with Optical Coherence tomography (horizontal scan), in the worse-seeing eyes. EZ Band Horizontal is expressed in micrometers (minimum value 0, maximum value 4000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
EZ Band Horizontal - Worse Seeing Eyes	-122.763 micrometers Standard Deviation 486.734

SECONDARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in Ellipsoid Zone Band Width, evaluated with Optical Coherence tomography (horizontal scan), in the worse-seeing eyes. EZ Band Horizontal is expressed in micrometers (minimum value 0, maximum value 4000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
EZ Band Horizontal - Worse Seeing Eyes	-21.658 micrometers Standard Deviation 237.373

SECONDARY outcome

Timeframe: 1 year follow up visit

Population: patients undergoing one-year follow-up visits

Change (from Baseline) in Ellipsoid Zone Band Width, evaluated with Optical Coherence tomography (Vertical scan), in the worse-seeing eyes. EZ Band Vertical is expressed in micrometers (minimum value 0, maximum value 4000). The results are reported as the change in the values collected at the 1 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=52 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
EZ Band Vertical - Worse Seeing Eyes	-149.051 micrometers Standard Deviation 528.203

SECONDARY outcome

Timeframe: 2 years follow up visit

Population: patients undergoing two-year follow-up visits

Change (from Baseline) in Ellipsoid Zone Band Width, evaluated with Optical Coherence tomography (Vertical scan), in the worse-seeing eyes. EZ Band Vertical is expressed in micrometers (minimum value 0, maximum value 4000). The results are reported as the change in the values collected at the 2 year follow-up visit compared with the values at the baseline visit.

Outcome measures

Outcome measures
Measure	Group of Subjects With Usher Syndrome Type 1B n=50 Participants In this study, there is 1 group of subjects with Usher Syndrome type 1B enrolled, over the 18-month recruitment period, to evaluate disease progression by several vision-related assessments. Subjects will be assessed using the following schedule: * Baseline visit * 1 year follow-up visit * 2 year follow-up visit
EZ Band Vertical - Worse Seeing Eyes	-15.861 micrometers Standard Deviation 236.02

Adverse Events

Group of Subjects With Usher Syndrome Type 1B

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Head of Clinical Development and Operations

Fondazione Telethon

Phone: +3902202217224

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place

Restriction type: LTE60