Natural History Study in Subjects With Usher Syndrome

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

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

Study Overview

• Status: Unknown
• Conditions: Usher Syndrome, Type 1B

Detailed 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.

• Study Type: Observational
• Enrollment (Anticipated): 50

Contacts and Locations

• Study Contact: Name: BIANCA FONTANELLA; Phone Number: +3908119230622; Email: fontanel@tigem.it

Study Locations

• Italy
  • Naples, Italy
    • Recruiting
    • Eye Clinic of the University of Campania Luigi Vanvitelli
    • Contact: Francesca Simonelli; Phone Number: +390815666761; Email: Francesca.SIMONELLI@unicampania.it
    • Principal Investigator: Francesca Simonelli
• Netherlands
  • Rotterdam, Netherlands
    • Recruiting
    • Stichting Oogziekenhuis Rotterdam
    • Contact: Ingeborgh van den Born; Email: born@oogziekenhuis.nl
    • Principal Investigator: Ingeborgh van den Born
• Spain
  • Madrid, Spain
    • Recruiting
    • Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz
    • Contact: Carmen Ayuso; Email: cayuso@fjd.es
    • Principal Investigator: Carmen Ayuso

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Subjects affected by Usher Syndrome 1B disease fulfilled eligibility criteria

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
visual acuity	Refraction and Best Corrected Visual Acuity	1 year
visual acuity	Refraction and Best Corrected Visual Acuity	2 years
visual field testing	kinetic perimetry and a full field static perimetry	1 year
visual field testing	kinetic perimetry and a full field static perimetry	2 years
Clinical ophthalmic examination	External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function	1 year
Clinical ophthalmic examination	External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function	2 years
Clinical ophthalmic examination	Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber	1 year
Clinical ophthalmic examination	Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber	2 years
Clinical ophthalmic examination	Intraocular Pressure measurement	1 year
Clinical ophthalmic examination	Intraocular Pressure measurement	2 years
Clinical ophthalmic examination	Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.	1 year
Clinical ophthalmic examination	Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.	2 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Microperimetry	central visual field	1 year
Microperimetry	central visual field	2 years
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
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

Collaborators and Investigators

• Sponsor: Fondazione Telethon
• Investigators: Principal Investigator: 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

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2018
• Primary Completion (Anticipated): December 30, 2020
• Study Completion (Anticipated): December 30, 2021

Study Registration Dates

• First Submitted: January 18, 2019
• First Submitted That Met QC Criteria: January 22, 2019
• First Posted (Actual): January 24, 2019

Study Record Updates

• Last Update Posted (Actual): January 24, 2019
• Last Update Submitted That Met QC Criteria: January 22, 2019
• Last Verified: January 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Eye Diseases; Neurologic Manifestations; Disease; Congenital Abnormalities; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Ear Diseases; Eye Diseases, Hereditary; Retinal Dystrophies; Sensation Disorders; Abnormalities, Multiple; Hearing Disorders; Vision Disorders; Deaf-Blind Disorders; Hearing Loss, Sensorineural; Blindness; Hearing Loss; Retinitis Pigmentosa; Deafness; Syndrome; Usher Syndromes
• Other Study ID Numbers: TIGEM3-UshTher-NHS