Leber Congenital Amaurosis 2RPE65-NHSNCT04525261
Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
An observational study of Leber Congenital Amaurosis 2 and Retinitis Pigmentosa 20, run by University of Campania Luigi Vanvitelli at 9 sites in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- Leber Congenital Amaurosis 2, Retinitis Pigmentosa 20
- How many people
- 60 participants
- Where
- 9 sitesItaly
- Study dates
- 1 May 2020to 31 Jul 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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).
Who cannot join
- 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).
Trial locations and contacts
9 sites in 1 country.
9 sites in 1 country
Italy9 sites
Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero
Camposampiero
UOC Oculistica - AOU Careggi
Florence
UOC Oculistica - Ospedale Sacco
Milan
UOC Oculistica - Ospedale San Paolo
Milan
UOC Oculistica - AOU Università degli Studi della Campania Luigi Vanvitelli
Naples
Centro di Neuroftalmologia dell'età evolutiva - IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino
Pavia
UOC Oculistica - Fondazione IRCCS Policlinico San Matteo
Pavia
UOC Oculistica - Ospedale Bambin Gesù di Roma
Rome
UOC Oculistica - Policlinico Gemelli di Roma
Rome
About this study
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.
- Keywords
- RPE65-related inherited retinal dystrophies, natural history study
- Medical subject headings
- Amaurosis congenita of Leber, type 2, Retinitis Pigmentosa 20
What is being measured
The primary outcome is the main question the study is designed to answer.
best correct visual acuity
average annual progression rate of best correct visual acuity over the retrospective follow-up period
Measured: at least one year
visual field
average annual progression rate of visual field over the retrospective follow-up period
Measured: at least one year
optical coherence tomography
average annual progression rate of central retinal thickness over the retrospective follow-up period
Measured: at least one year
Secondary outcomes (4)
microperimetry
average annual progression rate of macular sensitivity assessed by microperimetry over the retrospective follow-up period
Measured: at least one year
fundus autofluorescence
change in fundus autofluorescence over the retrospective follow-up period
Measured: at least one year
Full-field Electroretinogram
average annual progression rate of full-field electroretinogram responses over the retrospective follow-up period
Measured: at least one year
Multifocal Electroretinogram
average annual progression rate of multifocal electroretinogram responses over the retrospective follow-up period
Measured: at least one year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Aug 2020
- Study start1 May 2020
- Primary completion31 Jul 2020
- Study completion31 Jul 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Leber Congenital Amaurosis 2Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Campania Luigi Vanvitelli
- Sponsor type
- University, hospital or other
- Collaborators
- Retina Italia Onlus
- Responsible party
- Principal investigator, Francesca Simonelli, University of Campania Luigi Vanvitelli
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04525261
- Sponsor's protocol ID
- RPE65-NHS
- Acronym
- RPE65-NHS
- Status last verified
- Nov 2023
- First submitted
- 31 Jul 2020
- Last updated
- 29 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
- ClinicalTrials.gov ID
- NCT04525261
- Acronym / sponsor ID
- RPE65-NHS / RPE65-NHS
- Keywords
- RPE65-related inherited retinal dystrophies, natural history study
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- University of Campania Luigi VanvitelliUniversity, hospital or other
- Collaborators
- Retina Italia Onlus
- Study start
- 1 May 2020 (actual)
- Primary completion
- 31 Jul 2020 (actual)
- Study completion
- 31 Jul 2020 (actual)
- First posted
- 25 Aug 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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).
Key exclusion criteria (2 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
visual field
Time frame: at least one year
average annual progression rate of visual field over the retrospective follow-up period
optical coherence tomography
Time frame: at least one year
average annual progression rate of central retinal thickness over the retrospective follow-up period
4 secondary outcomes
microperimetry
Time frame: at least one year
fundus autofluorescence
Time frame: at least one year
Full-field Electroretinogram
Time frame: at least one year
Multifocal Electroretinogram
Time frame: at least one year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Nov 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Leber Congenital Amaurosis 2 and Retinitis Pigmentosa 20, run by University of Campania Luigi Vanvitelli at 9 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
best correct visual acuity (time frame: at least one year). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Nov 2023.