CompletedNCT03814499Updated Dec 9, 2024Results posted

Natural History Study in Subjects With Usher Syndrome

An observational study in Usher Syndrome, Type 1B, sponsored by Fondazione Telethon. Completed at 3 sites in 3 countries. Open to participants aged 8 Years and older. Per ClinicalTrials.gov, last updated 2024-12-09.

Sponsored by Fondazione Telethon · Observational

Study type: Observational
Model: Other
Time perspective: Prospective
Enrollment: 56
Ages: 8 Years and older
Sex: All

Study summary

Natural History Study in Subjects With Usher Syndrome ((USH1B) is a multi-centre, longitudinal, observational study designed to evaluate disease progression in subjects with USH1B by several vision-related assessments.

Read the detailed description

Natural History Study in Subjects With Usher Syndrome (USH1B) is being conducted to understand the progression of disease in USH1B patients as measured by visual acuity and visual field testing and a number of other vision-related assessments. Disease progression will be evaluated as change over time in these measures and associations between the endpoints will be examined.

The primary objective of this study is to evaluate the natural progression of disease over time in USHIB patients using visual field testing and best corrected visual acuity.

The secondary objectives of this study are to evaluate the progression of disease over time in USHIB patients through additional assessments:

Microperimetry (only in selected centres)
Fundus autofluorescence (FAF)
Optical Coherence Tomography (OCT)
Full-field Electroretinogram (ERG),
Multifocal Electroretinogram,
Vision-related function and quality of life, as measured by the 25-Item National Eye Institute Visual Function Questionnaire (NEI VFQ-25)

Conditions studied

Usher Syndrome, Type 1B

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In context

Usher Syndromes

34 studies on the registry are indexed under Usher Syndromes; 13 are open to participants now.

This study's enrollment of 56 is below the median of 100 across 15 observational studies indexed under Usher Syndromes.

Browse Usher Syndromes studies →

Lead sponsor

Fondazione Telethon is the lead sponsor of 12 studies on the registry; 3 are open to participants now.

Counted across the registry records on this site, refreshed daily.

Who can participate

Ages eligible: 8 Years and older
Sexes eligible: All
Accepts healthy volunteers: No
Sampling method: Non-probability sample

Study population

Subjects affected by Usher Syndrome 1B disease fulfilled eligibility criteria

Inclusion criteria

Must be willing to adhere to protocol for long-term follow-up as evidenced by written informed consent or parental permission and subject assent.
Subjects diagnosed with USH1.
Molecular diagnosis of USH1B due to MYO7A mutations (homozygotes or compound heterozygotes).
Age eight years old or older at the time of baseline.
Visual acuity ≥ 20/640 in at least one eye

Exclusion criteria

Exclusion Criteria:

Unable or unwilling to meet requirements of the study.
Unable to communicate with suitable verbal/auditory and/or tactile sign language (in the opinion of the investigator)
Participation in a clinical study with an investigational drug in the past six months.
Pre-existing eye conditions that would interfere with the interpretation of study endpoints (for example, glaucoma, corneal or significant lenticular opacities, cystoid macular oedema, macular hole).
Complicating systemic diseases in which the disease itself, or the treatment for the disease, can alter ocular function. Examples are malignancies whose treatment could affect central nervous system function (for example, radiation treatment of the orbit; leukemia with CNS/optic nerve involvement). Also excluded would be subjects with immuno- compromising diseases, as there could be susceptibility to opportunistic infection [such as cytomegalovirus (CMV) retinitis].
Subjects with diabetes or sickle cell disease would be excluded if they had any manifestation of advanced retinopathy (e.g. macular edema or proliferative changes).
Prior ocular surgery within three months.
Any other condition that would not allow the potential subject to complete follow-up examinations during the course of the study and, in the opinion of the investigator, makes the potential subject unsuitable for the study.

Study design

Observational model: Other
Time perspective: Prospective
Enrollment: 56 participants (actual)
Patient registry: No

What researchers measure

Primary outcomes

BCVA - Better Seeing Eyes
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.
Time frame: 1 year follow up visit
BCVA - Better Seeing Eyes
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.
Time frame: 2 year follow up visit
III4e Area - Better Seeing Eyes
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.
Time frame: 1 year follow up visit
III4e Area - Better Seeing Eyes
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.
Time frame: 2 year follow up visit
V4e Area - Better Seeing Eyes
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.
Time frame: 1 year follow up visit
V4e Area - Better Seeing Eyes
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.
Time frame: 2 year follow up visit
BCVA - Worse Seeing Eyes
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.
Time frame: 1 year follow up visit
BCVA - Worse Seeing Eyes
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.
Time frame: 2 years follow up visit
III4e Area - Worse Seeing Eyes
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.
Time frame: 1 year follow up visit
III4e Area - Worse Seeing Eyes
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.
Time frame: 2 years follow up visit
V4e Area - Worse Seeing Eyes
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.
Time frame: 1 year follow up visit
V4e Area - Worse Seeing Eyes
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.
Time frame: 2 years follow up visit

Secondary outcomes

MS - Better Seeing Eyes
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.
Time frame: 1 year follow up visit
MS - Better Seeing Eyes
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.
Time frame: 2 years follow up visit
CMT - Better Seeing Eyes
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.
Time frame: 1 year follow up visit
CMT - Better Seeing Eyes
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.
Time frame: 2 years follow up visit
EZ Band Horizontal - Better Seeing Eyes
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.
Time frame: 1 year follow up visit
EZ Band Horizontal - Better Seeing Eyes
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.
Time frame: 2 years follow up visit
EZ Band Vertical - Better Seeing Eyes
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.
Time frame: 1 year follow up visit
EZ Band Vertical - Better Seeing Eyes
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.
Time frame: 2 years follow up visit
MS - Worse Seeing Eyes
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.
Time frame: 1 year follow up visit
MS - Worse Seeing Eyes
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.
Time frame: 2 years follow up visit
CMT - Worse Seeing Eyes
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.
Time frame: 1 year follow up visit
CMT - Worse Seeing Eyes
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.
Time frame: 2 years follow up visit
EZ Band Horizontal - Worse Seeing Eyes
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.
Time frame: 1 year follow up visit
EZ Band Horizontal - Worse Seeing Eyes
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.
Time frame: 2 years follow up visit
EZ Band Vertical - Worse Seeing Eyes
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.
Time frame: 1 year follow up visit
EZ Band Vertical - Worse Seeing Eyes
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.
Time frame: 2 years follow up visit

Results

Posted Dec 9, 2024

Participant flow

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

Participant flow — Overall Study
Milestone	Group of Subjects With Usher Syndrome Type 1B
Started	53
Completed	50
Not completed	3
Withdrew: Lost to follow-up	3

Outcome measures

PrimaryBCVA - Better Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · ETDRS score

BCVA - Better Seeing Eyes
ETDRS score	Group of Subjects With Usher Syndrome Type 1B
BCVA - Better Seeing Eyes	-2.26 ± 3.838

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = <0.01 · Coefficient: -2.3

PrimaryBCVA - Better Seeing Eyes

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.

Time frame:: 2 year follow up visit
Reported as:: Mean · ETDRS score

BCVA - Better Seeing Eyes
ETDRS score	Group of Subjects With Usher Syndrome Type 1B
BCVA - Better Seeing Eyes	-1.468 ± 4.999

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = <0.01 · Coefficient: -3.8

PrimaryIII4e Area - Better Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · degree squared

III4e Area - Better Seeing Eyes
degree squared	Group of Subjects With Usher Syndrome Type 1B
III4e Area - Better Seeing Eyes	561.966 ± 2043.612

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.3269 · Coefficient: 369.9

PrimaryIII4e Area - Better Seeing Eyes

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.

Time frame:: 2 year follow up visit
Reported as:: Mean · degree squared

III4e Area - Better Seeing Eyes
degree squared	Group of Subjects With Usher Syndrome Type 1B
III4e Area - Better Seeing Eyes	70.286 ± 1451.128

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.4265 · Coefficient: 365.4

PrimaryV4e Area - Better Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · degree squared

V4e Area - Better Seeing Eyes
degree squared	Group of Subjects With Usher Syndrome Type 1B
V4e Area - Better Seeing Eyes	273.309 ± 2432.785

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.4782 · Coefficient: 264.3

PrimaryV4e Area - Better Seeing Eyes

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.

Time frame:: 2 year follow up visit
Reported as:: Mean · degree squared

V4e Area - Better Seeing Eyes
degree squared	Group of Subjects With Usher Syndrome Type 1B
V4e Area - Better Seeing Eyes	700.245 ± 3942.6

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.2716 · Coefficient: 730.2

PrimaryBCVA - Worse Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · ETDRS score

BCVA - Worse Seeing Eyes
ETDRS score	Group of Subjects With Usher Syndrome Type 1B
BCVA - Worse Seeing Eyes	-0.625 ± 5.35

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.4178 · Coefficient: -0.6

PrimaryBCVA - Worse Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · ETDRS score

BCVA - Worse Seeing Eyes
ETDRS score	Group of Subjects With Usher Syndrome Type 1B
BCVA - Worse Seeing Eyes	-0.909 ± 7.041

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.2677 · Coefficient: -1.5

PrimaryIII4e Area - Worse Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · degree squared

III4e Area - Worse Seeing Eyes
degree squared	Group of Subjects With Usher Syndrome Type 1B
III4e Area - Worse Seeing Eyes	-445.569 ± 2920.491

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.3364 · Coefficient: -467

PrimaryIII4e Area - Worse Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · degree squared

III4e Area - Worse Seeing Eyes
degree squared	Group of Subjects With Usher Syndrome Type 1B
III4e Area - Worse Seeing Eyes	-407.928 ± 3209.147

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.1124 · Coefficient: -908

PrimaryV4e Area - Worse Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · degree squared

V4e Area - Worse Seeing Eyes
degree squared	Group of Subjects With Usher Syndrome Type 1B
V4e Area - Worse Seeing Eyes	391.212 ± 2726.331

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.2649 · Coefficient: 479.2

PrimaryV4e Area - Worse Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · degree squared

V4e Area - Worse Seeing Eyes
degree squared	Group of Subjects With Usher Syndrome Type 1B
V4e Area - Worse Seeing Eyes	610.017 ± 5658.524

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.216 · Coefficient: 1114.3

SecondaryMS - Better Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · decibels

MS - Better Seeing Eyes
decibels	Group of Subjects With Usher Syndrome Type 1B
MS - Better Seeing Eyes	0.137 ± 2.89

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.9032 · Coefficient: 0.1

SecondaryMS - Better Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · decibels

MS - Better Seeing Eyes
decibels	Group of Subjects With Usher Syndrome Type 1B
MS - Better Seeing Eyes	-0.315 ± 7.174

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.7889 · Coefficient: -0.4

SecondaryCMT - Better Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · micrometers

CMT - Better Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
CMT - Better Seeing Eyes	7 ± 21.532

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.0242 · Coefficient: 7

SecondaryCMT - Better Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · micrometers

CMT - Better Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
CMT - Better Seeing Eyes	-5.667 ± 18.877

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.5092 · Coefficient: 1.5

SecondaryEZ Band Horizontal - Better Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · micrometers

EZ Band Horizontal - Better Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
EZ Band Horizontal - Better Seeing Eyes	-42.795 ± 324.893

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.3634 · Coefficient: -47.1

SecondaryEZ Band Horizontal - Better Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · micrometers

EZ Band Horizontal - Better Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
EZ Band Horizontal - Better Seeing Eyes	-160.556 ± 628.761

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.0677 · Coefficient: -204.7

SecondaryEZ Band Vertical - Better Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · micrometers

EZ Band Vertical - Better Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
EZ Band Vertical - Better Seeing Eyes	-289.75 ± 1107.784

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.156 · Coefficient: -235.8

SecondaryEZ Band Vertical - Better Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · micrometers

EZ Band Vertical - Better Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
EZ Band Vertical - Better Seeing Eyes	190.553 ± 1276.729

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.3148 · Coefficient: -102

SecondaryMS - Worse Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · decibels

MS - Worse Seeing Eyes
decibels	Group of Subjects With Usher Syndrome Type 1B
MS - Worse Seeing Eyes	-0.056 ± 3.279

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.9349 · Coefficient: -0.1

SecondaryMS - Worse Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · decibels

MS - Worse Seeing Eyes
decibels	Group of Subjects With Usher Syndrome Type 1B
MS - Worse Seeing Eyes	-0.758 ± 7.062

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.7196 · Coefficient: -0.6

SecondaryCMT - Worse Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · micrometers

CMT - Worse Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
CMT - Worse Seeing Eyes	4.786 ± 15.682

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.0542 · Coefficient: 4.7

SecondaryCMT - Worse Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · micrometers

CMT - Worse Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
CMT - Worse Seeing Eyes	-2.026 ± 22.358

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.4224 · Coefficient: 2.6

SecondaryEZ Band Horizontal - Worse Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · micrometers

EZ Band Horizontal - Worse Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
EZ Band Horizontal - Worse Seeing Eyes	-122.763 ± 486.734

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.1247 · Coeffiient: -118.9

SecondaryEZ Band Horizontal - Worse Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · micrometers

EZ Band Horizontal - Worse Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
EZ Band Horizontal - Worse Seeing Eyes	-21.658 ± 237.373

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.1461 · Coefficient: -135.2

SecondaryEZ Band Vertical - Worse Seeing Eyes

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.

Time frame:: 1 year follow up visit
Reported as:: Mean · micrometers

EZ Band Vertical - Worse Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
EZ Band Vertical - Worse Seeing Eyes	-149.051 ± 528.203

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.0699 · Coefficient: -154.2

SecondaryEZ Band Vertical - Worse Seeing Eyes

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.

Time frame:: 2 years follow up visit
Reported as:: Mean · micrometers

EZ Band Vertical - Worse Seeing Eyes
micrometers	Group of Subjects With Usher Syndrome Type 1B
EZ Band Vertical - Worse Seeing Eyes	-15.861 ± 236.02

Statistical analysis

Group of Subjects With Usher Syndrome Type 1B · Regression, Linear · p = 0.0901 · Coefficient: -164.6

Adverse events

Collected over 1 year, 2 years. Non-serious events are listed at a 0% frequency threshold.

Adverse event summary by group
Group	Deaths	Serious	Other
Group of Subjects With Usher Syndrome Type 1B	0/53 (0%)	0/53 (0%)	0/53 (0%)

Baseline characteristics

A total of 61 patients (32 screened by Unicamp, 20 by IIS-FJD and 9 by REH) with clinical diagnosis of USH1 were screened for inclusion in the study. 8 of these were excluded according to exclusion/inclusion criteria.

Age, Categorical
Age, Categorical(Participants)	Group of Subjects With Usher Syndrome Type 1B
<=18 years	11
Between 18 and 65 years	39
>=65 years	3

Age, Continuous
Age, Continuous(years)	Group of Subjects With Usher Syndrome Type 1B
Mean	33.6 ± 16.7

Sex: Female, Male
Sex: Female, Male(Participants)	Group of Subjects With Usher Syndrome Type 1B
Female	23
Male	30

Race (NIH/OMB)
Race (NIH/OMB)(Participants)	Group of Subjects With Usher Syndrome Type 1B
American Indian or Alaska Native	0
Asian	0
Native Hawaiian or Other Pacific Islander	0
Black or African American	0
White	53
More than one race	0
Unknown or Not Reported	0

Region of Enrollment
Region of Enrollment(participants)	Group of Subjects With Usher Syndrome Type 1B
Netherlands	8
Italy	29
Spain	16

BCVA - better seeing eyes
BCVA - better seeing eyes(ETDRS Score)	Group of Subjects With Usher Syndrome Type 1B
Mean	66.4 ± 17.9

III4e Area - better seeing eyes
III4e Area - better seeing eyes(Degree Squared)	Group of Subjects With Usher Syndrome Type 1B
Mean	3365.8 ± 4142.1

V4e Area - better seeing eyes
V4e Area - better seeing eyes(Degree squared)	Group of Subjects With Usher Syndrome Type 1B
Mean	5605.2 ± 5290.2

11 further baseline measures are reported on the registry.

Study locations

3 sites

Eye Clinic of the University of Campania Luigi Vanvitelli
Naples, Italy
Stichting Oogziekenhuis Rotterdam
Rotterdam, Netherlands
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz
Madrid, Spain

References and documents

Study documents

Protocol and statistical analysis plan · Mar 16, 2018
Informed consent form · Mar 16, 2018

Documents are hosted by the registry — open the source record to download them.

Updates

Tracking since Sep 25, 2026

No changes since tracking began. The registry record was last updated on Dec 9, 2024, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗

Registry details

Key details

Study ID: NCT03814499
Lead sponsor: Fondazione Telethon
Responsible party: Sponsor
First posted: Jan 24, 2019
Start date: Jun 1, 2018
Primary completion: Dec 30, 2020
Completion: Dec 30, 2022
Results posted: Dec 9, 2024
Last update: Dec 9, 2024

Study contacts

FRANCESCA SIMONELLI

principal investigator · Eye Clinic of the University of Campania Luigi Vanvitelli, Naples, Italy

Ingeborgh van den Born

principal investigator · Stichting Oogziekenhuis Rotterdam, Rotterdam, The Netherland.

Carmen Ayuso

principal investigator · Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain

View the source record on ClinicalTrials.gov ↗

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