Clinical trial NCT04525261: Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
Official title: Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Leber Congenital Amaurosis 2
Retinitis Pigmentosa 20
Keywords: RPE65-related inherited retinal dystrophies
natural history study
Lead sponsor: University of Campania Luigi Vanvitelli
Sponsor class: OTHER
Collaborators: name: Retina Italia Onlus
First posted: 2020-08-25
Enrollment: 60
Sex: ALL
Minimum age (years): 3
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
Sampling method: NON_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.

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.


Eligibility criteria: 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).

Primary outcomes:
measure: best correct visual acuity
timeFrame: at least one year
measure: visual field
timeFrame: at least one year
measure: optical coherence tomography
timeFrame: at least one year
Secondary outcomes:
measure: microperimetry
timeFrame: at least one year
measure: fundus autofluorescence
timeFrame: at least one year
measure: Full-field Electroretinogram
timeFrame: at least one year
measure: Multifocal Electroretinogram
timeFrame: at least one year
Other outcomes:
Locations:
city: Camposampiero
country: Italy
facility: Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero
city: Florence
country: Italy
facility: UOC Oculistica - AOU Careggi
city: Milan
country: Italy
facility: UOC Oculistica - Ospedale Sacco
city: Milan
country: Italy
facility: UOC Oculistica - Ospedale San Paolo
city: Naples
country: Italy
facility: UOC Oculistica - AOU Università degli Studi della Campania Luigi Vanvitelli
city: Pavia
country: Italy
facility: Centro di Neuroftalmologia dell'età evolutiva - IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino
city: Pavia
country: Italy
facility: UOC Oculistica - Fondazione IRCCS Policlinico San Matteo
city: Rome
country: Italy
facility: UOC Oculistica - Ospedale Bambin Gesù di Roma
city: Rome
country: Italy
facility: UOC Oculistica - Policlinico Gemelli di Roma
Study officials:
References: