Natural History Study in Subjects With Usher Syndrome

NCT03814499 | Completed Results

• 1 other identifier: TIGEM3-UshTher-NHS
• Study Type: observational
• Target: 56
• Locations: 3 countries
• Sites: 3

Brief 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.

Conditions

Usher Syndrome, Type 1B

Outcome Measures

Primary Outcomes (12)

• 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.

  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.

  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.

  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.

  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.

  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.

  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.

  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.

  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.

  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.

  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.

  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.

  2 years follow up visit

Secondary Outcomes (16)

• MS - Better Seeing Eyes

  1 year follow up visit

• MS - Better Seeing Eyes

  2 years follow up visit

• CMT - Better Seeing Eyes

  1 year follow up visit

• CMT - Better Seeing Eyes

  2 years follow up visit

• EZ Band Horizontal - Better Seeing Eyes

  1 year follow up visit

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects affected by Usher Syndrome 1B disease fulfilled eligibility criteria

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Fondazione Telethon: lead

Study Sites (3)

Eye Clinic of the University of Campania Luigi Vanvitelli

Naples, Italy

Location

Stichting Oogziekenhuis Rotterdam

Rotterdam, Netherlands

Location

Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz

Madrid, Spain

Location

MeSH Terms

Conditions

Usher syndrome, type 1B

Results Point of Contact

• Title: Head of Clinical Development and Operations
• Organization: Fondazione Telethon

szancan@telethon.it

+3902202217224

Study Officials

• FRANCESCA SIMONELLI

  Eye Clinic of the University of Campania Luigi Vanvitelli, Naples, Italy

  PRINCIPAL INVESTIGATOR

• Ingeborgh van den Born

  Stichting Oogziekenhuis Rotterdam, Rotterdam, The Netherland.

  PRINCIPAL INVESTIGATOR

• Carmen Ayuso

  Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: LTE60
• Restrictive Agreement: Yes

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2019
• First Posted: January 24, 2019
• Study Start: June 1, 2018
• Primary Completion: December 30, 2020
• Study Completion: December 30, 2022
• Last Updated: December 9, 2024
• Results First Posted: December 9, 2024

Record last verified: 2024-10

Locations

ES (1); IT (1); NL (1)