Natural History Study in Subjects With Usher Syndrome

Usher Syndrome, Type 1B Clinical Trial

Official title:

A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03814499
• Other study ID #: TIGEM3-UshTher-NHS
• Status: Recruiting
• Start date: June 1, 2018
• Est. completion date: December 30, 2021

Study information

• Verified date: January 2019
• Source: Fondazione Telethon
• Contact: BIANCA FONTANELLA
• Phone: +3908119230622
• Email: fontanel[@]tigem.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The objective of the study is to evaluate the natural progression of disease over time in USHIB patients

Description:

This natural history study (NHS) is being conducted to understand the progression of disease in USH1B patients as measured by a number of vision-related assessments. Disease progression will be evaluated as change over time in these measures, and associations between the endpoints will be examined.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 50
• Est. completion date: December 30, 2021
• Est. primary completion date: December 30, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 8 Years and older

Eligibility

Inclusion Criteria:

1. Must be willing to adhere to protocol for long-term follow-up as evidenced by written informed consent or parental permission and subject assent.

2. Subjects diagnosed with USH1.

3. Molecular diagnosis of USH1B due to MYO7A mutations (homozygotes or compound heterozygotes).

4. Age eight years old or older at the time of baseline.

5. Visual acuity = 20/640 in at least one eye

Exclusion Criteria:

1. Unable or unwilling to meet requirements of the study.

2. Unable to communicate with suitable verbal/auditory and/or tactile sign language (in the opinion of the investigator)

3. Participation in a clinical study with an investigational drug in the past six months.

4. 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).

5. 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].

6. 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).

7. Prior ocular surgery within three months.

8. 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.

Related Conditions & MeSH terms

• Syndrome
• Usher Syndrome, Type 1B
• Usher Syndromes

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
Fondazione Telethon

Countries where clinical trial is conducted

Italy,  Netherlands,  Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	visual acuity	Refraction and Best Corrected Visual Acuity	1 year
Primary	visual acuity	Refraction and Best Corrected Visual Acuity	2 years
Primary	visual field testing	kinetic perimetry and a full field static perimetry	1 year
Primary	visual field testing	kinetic perimetry and a full field static perimetry	2 years
Primary	Clinical ophthalmic examination	External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function	1 year
Primary	Clinical ophthalmic examination	External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function	2 years
Primary	Clinical ophthalmic examination	Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber	1 year
Primary	Clinical ophthalmic examination	Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber	2 years
Primary	Clinical ophthalmic examination	Intraocular Pressure measurement	1 year
Primary	Clinical ophthalmic examination	Intraocular Pressure measurement	2 years
Primary	Clinical ophthalmic examination	Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.	1 year
Primary	Clinical ophthalmic examination	Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.	2 year
Secondary	Microperimetry	central visual field	1 year
Secondary	Microperimetry	central visual field	2 years
Secondary	Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0	Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0	1 year
Secondary	Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0	Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0	2 years