Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene (RPE65-NHS)

University of Campania "Luigi Vanvitelli"

Status: Completed

Conditions: Retinitis Pigmentosa 20; Leber Congenital Amaurosis 2

Study type: Observational

Funder types: Other

Identifiers

NCT04525261

RPE65-NHS

Details and patient eligibility

About

Rationale:

In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene. Such a study will help identify suitable patients for therapeutic intervention.

Methodology:

This is a multicenter retrospective, descriptive chart review study designed to assess retinal structure and function in subjects with IRDs due to mutation in RPE65 gene by visual acuity, visual field measurements, Optical Coherence Tomography (OCT), and a number of other vision-related assessments.

Enrollment: 60 patients

Sex: All

Ages: 3+ years old

Volunteers: No Healthy Volunteers

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).