Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene

Plain-language summary

This study followed the disease course (natural history) of patients with inherited retinal diseases caused by mutations in the RPE65 gene. It enrolled patients aged three and older with retinitis pigmentosa or Leber Congenital Amaurosis and a confirmed mutation in the RPE65 gene. This was a study without an assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

University of Campania Luigi Vanvitelli

Start date

5/1/2020

Estimated completion

7/31/2020

Countries

Italy

Related genes

Locations

• Camposampiero, Italy
• Florence, Italy
• Milan, Italy
• Milan, Italy
• Naples, Italy
• Pavia, Italy
• Pavia, Italy
• Rome, Italy
• Rome, Italy

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Must be willing to adhere to protocol as evidenced by written informed consent or parental permission and subject assent.
* Subjects diagnosed with Retinitis Pigmentosa or Leber Congenital Amaurosis.
* Molecular diagnosis showing mutations (homozygotes or compound heterozygotes) in RPE65 gene.
* Age three years old or older.
* Minimum of two office / clinic visits encounters with ophthalmic assessment that span a follow-up period of at least 1 year with the last visit occurring within the last six months (before signature of informed consent and of study start).

Exclusion Criteria:

* Unable or unwilling to meet requirements of the study.
* Participation in a clinical study with an investigational drug during the retrospective study time period (i.e., from 01/01/1990 to study start date).