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OpenTrials
Completed

NCT Number: NCT04525261

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

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.

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Key information

Conditions

Leber Congenital Amaurosis 2 Amaurosis congenita of Leber, type 2 Retinitis Pigmentosa 20

Age range

3 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero, Camposampiero, Italy

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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).

Treatment and study plan

Primary outcomes

  1. best correct visual acuity

    Time frame: at least one year

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

  2. visual field

    Time frame: at least one year

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

  3. optical coherence tomography

    Time frame: at least one year

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

Secondary outcomes

  1. microperimetry

    Time frame: at least one year

    average annual progression rate of macular sensitivity assessed by microperimetry over the retrospective follow-up period

  2. fundus autofluorescence

    Time frame: at least one year

    change in fundus autofluorescence over the retrospective follow-up period

  3. Full-field Electroretinogram

    Time frame: at least one year

    average annual progression rate of full-field electroretinogram responses over the retrospective follow-up period

  4. Multifocal Electroretinogram

    Time frame: at least one year

    average annual progression rate of multifocal electroretinogram responses over the retrospective follow-up period

Sponsors and collaborators

Lead sponsor

University of Campania Luigi Vanvitelli

Other

Collaborators

  • Retina Italia Onlus

Registry information

Acronym: RPE65-NHS

Important dates

Study start
2020
Primary completion
2020
Study completion
2020
First posted
Aug 25, 2020
Registry last updated
Nov 29, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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