Natural History Study in Subjects With Usher Syndrome

Brief Title

Natural History Study in Subjects With Usher Syndrome

Official Title

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

Brief Summary

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

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


Primary Outcome

visual acuity

Secondary Outcome

 Microperimetry

Condition

Usher Syndrome, Type 1B



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

50

Start Date

June 1, 2018

Completion Date

December 30, 2021

Primary Completion Date

December 30, 2020

Eligibility Criteria

        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.
      

Gender

All

Ages

8 Years - N/A

Accepts Healthy Volunteers

No

Contacts

FRANCESCA SIMONELLI, +3908119230622, [email protected]

Location Countries

Italy

Location Countries

Italy

Administrative Informations


NCT ID

NCT03814499

Organization ID

TIGEM3-UshTher-NHS


Responsible Party

Sponsor

Study Sponsor

Fondazione Telethon


Study Sponsor

FRANCESCA SIMONELLI, Principal Investigator, Eye Clinic of the University of Campania Luigi Vanvitelli, Naples, Italy


Verification Date

January 2019