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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04525261

Acronym

RPE65-NHS

Enrollment

Registered

2020-08-25

Start date

2020-05-01

Completion date

2020-07-31

Last updated

2023-11-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Leber Congenital Amaurosis 2, Retinitis Pigmentosa 20

Keywords

RPE65-related inherited retinal dystrophies, natural history study

Brief summary

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

3 Years to No maximum

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).

Design outcomes

Primary

Measure	Time frame	Description
visual field	at least one year	average annual progression rate of visual field over the retrospective follow-up period
optical coherence tomography	at least one year	average annual progression rate of central retinal thickness over the retrospective follow-up period
best correct visual acuity	at least one year	average annual progression rate of best correct visual acuity over the retrospective follow-up period

Secondary

Measure	Time frame	Description
microperimetry	at least one year	average annual progression rate of macular sensitivity assessed by microperimetry over the retrospective follow-up period
Multifocal Electroretinogram	at least one year	average annual progression rate of multifocal electroretinogram responses over the retrospective follow-up period
fundus autofluorescence	at least one year	change in fundus autofluorescence over the retrospective follow-up period
Full-field Electroretinogram	at least one year	average annual progression rate of full-field electroretinogram responses over the retrospective follow-up period

Countries

Italy

Outcome results