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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04525261
Recruitment Status : Recruiting
First Posted : August 25, 2020
Last Update Posted : August 25, 2020
Sponsor:
Collaborator:
Retina Italia Onlus
Information provided by (Responsible Party):
Francesca Simonelli, University of Campania "Luigi Vanvitelli"

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.


Condition or disease
Leber Congenital Amaurosis 2 Retinitis Pigmentosa 20

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
Actual Study Start Date : May 1, 2020
Estimated Primary Completion Date : December 31, 2020
Estimated Study Completion Date : December 31, 2020





Primary Outcome Measures :
  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 Outcome Measures :
  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



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   3 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04525261


Contacts
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Contact: Francesca Simonelli, MD +390817704501 francesca.simonelli@unicampania.it

Locations
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Italy
Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero Not yet recruiting
Camposampiero, Italy
Contact: Marzio Chizzolini, MD    +39049 9324111    marzio.chizzolini@aulss6.veneto.it   
Principal Investigator: Marzio Chizzolini, MD         
Sub-Investigator: Francesco Parmeggiani, MD         
UOC Oculistica - AOU Careggi Recruiting
Florence, Italy
Contact: Vittoria Murro, MD    +39 055 27571    vittoria.murro@unifi.it   
Principal Investigator: Vittoria Murro, MD         
Sub-Investigator: Andrea Sodi, MD         
UOC Oculistica - Ospedale Sacco Recruiting
Milan, Italy
Contact: Giovanni Staurenghi    +390263631    giovanni.staurenghi@unimi.it   
Principal Investigator: Giovanni Staurenghi         
Sub-Investigator: Anna Paola Salvetti         
UOC Oculistica - Ospedale San Paolo Recruiting
Milan, Italy
Contact: Luca Rossetti    +390281843937    luca.rossetti@unimi.it   
Principal Investigator: Luca Rossetti, MD         
Sub-Investigator: Leonardo Colombo, MD         
UOC Oculistica - AOU Università degli Studi della Campania Luigi Vanvitelli Recruiting
Naples, Italy
Contact: Francesca Simonelli    +390817704501    francesca.simonelli@unicampania.it   
Principal Investigator: Francesca Simonelli, MD         
Sub-Investigator: Francesco Testa, MD         
Sub-Investigator: Raffaella Brunetti Pierri, MD         
Centro di Neuroftalmologia dell'età evolutiva - IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino Recruiting
Pavia, Italy
Contact: Sabrina Signorini    +39 0382 3801    sabrina.signorini@mondino.it   
Principal Investigator: Sabrina Signorini         
Sub-Investigator: Giorgia Aprile         
UOC Oculistica - Fondazione IRCCS Policlinico San Matteo Recruiting
Pavia, Italy
Contact: Luciano Quaranta    +390382526213    luciano.quaranta@unipv.it   
Principal Investigator: Luciano Quaranta         
Sub-Investigator: Chiara Bertone         
UOC Oculistica - Ospedale Bambin Gesù di Roma Recruiting
Rome, Italy
Contact: Luca Buzzonetti    +39 06 6859 2222    luca.buzzonetti@opbg.net   
Principal Investigator: Luca Buzzonetti         
Sub-Investigator: Giancarlo Iarossi         
UOC Oculistica - Policlinico Gemelli di Roma Recruiting
Rome, Italy
Contact: Stanislao Rizzo    +390630155228    stanislao.rizzo@unicatt.it   
Principal Investigator: Stanislao Rizzo         
Sub-Investigator: Benedetto Falsini         
Sponsors and Collaborators
University of Campania "Luigi Vanvitelli"
Retina Italia Onlus
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Responsible Party: Francesca Simonelli, Prof, University of Campania "Luigi Vanvitelli"
ClinicalTrials.gov Identifier: NCT04525261    
Other Study ID Numbers: RPE65-NHS
First Posted: August 25, 2020    Key Record Dates
Last Update Posted: August 25, 2020
Last Verified: August 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Francesca Simonelli, University of Campania "Luigi Vanvitelli":
RPE65-related inherited retinal dystrophies
natural history study
Additional relevant MeSH terms:
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Blindness
Retinitis
Retinitis Pigmentosa
Retinal Diseases
Leber Congenital Amaurosis
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases