NCT04525261

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
60

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started May 2020

Shorter than P25 for all trials

Geographic Reach
1 country

9 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 1, 2020

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

July 31, 2020

Completed
Same day until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 31, 2020

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 31, 2020

Completed
25 days until next milestone

First Posted

Study publicly available on registry

August 25, 2020

Completed
Last Updated

November 29, 2023

Status Verified

November 1, 2023

Enrollment Period

3 months

First QC Date

July 31, 2020

Last Update Submit

November 28, 2023

Conditions

Leber Congenital Amaurosis 2Retinitis Pigmentosa 20

Keywords

RPE65-related inherited retinal dystrophiesnatural history study

Outcome Measures

Primary Outcomes (3)

  • best correct visual acuity

    average annual progression rate of best correct visual acuity over the retrospective follow-up period

    at least one year

  • visual field

    average annual progression rate of visual field over the retrospective follow-up period

    at least one year

  • optical coherence tomography

    average annual progression rate of central retinal thickness over the retrospective follow-up period

    at least one year

Secondary Outcomes (4)

  • microperimetry

    at least one year

  • fundus autofluorescence

    at least one year

  • Full-field Electroretinogram

    at least one year

  • Multifocal Electroretinogram

    at least one year

Eligibility Criteria

Age3 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

It is expected that approximately 200 patients may be recruited into the study during the recruitment period. Each subject must participate in the informed consent process and provide written informed consent/assent before any data could be collected.

You may qualify if:

  • 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).

You may not qualify if:

  • 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).

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (9)

Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero

Camposampiero, Italy

Location

UOC Oculistica - AOU Careggi

Florence, Italy

Location

UOC Oculistica - Ospedale Sacco

Milan, Italy

Location

UOC Oculistica - Ospedale San Paolo

Milan, Italy

Location

UOC Oculistica - AOU Università degli Studi della Campania Luigi Vanvitelli

Naples, Italy

Location

Centro di Neuroftalmologia dell'età evolutiva - IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino

Pavia, Italy

Location

UOC Oculistica - Fondazione IRCCS Policlinico San Matteo

Pavia, Italy

Location

UOC Oculistica - Ospedale Bambin Gesù di Roma

Rome, Italy

Location

UOC Oculistica - Policlinico Gemelli di Roma

Rome, Italy

Location

MeSH Terms

Conditions

Amaurosis congenita of Leber, type 2Retinitis Pigmentosa 20

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Prof

Study Record Dates

First Submitted

July 31, 2020

First Posted

August 25, 2020

Study Start

May 1, 2020

Primary Completion

July 31, 2020

Study Completion

July 31, 2020

Last Updated

November 29, 2023

Record last verified: 2023-11

Data Sharing

IPD Sharing
Will not share

Locations

IT(9)