Leber Congenital Amaurosis (LCA)NCT02575430
Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT
An observational study of Leber Congenital Amaurosis (LCA) and Retinitis Pigmentosa (RP), run by QLT Inc. at 9 sites in 7 countries.
Trial summary
To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations. Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Leber Congenital Amaurosis (LCA), Retinitis Pigmentosa (RP)
- What is being tested?
- No treatment: retrospective chart review
- How many people
- 59 participants
- Where
- 9 sitesin 7 countries
- Study dates
- Dec 2015to Mar 2016
- 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 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects with IRD phenotypically diagnosed as LCA or RP caused by autosomal recessive mutation in RPE65 or LRAT.
Who may be able to join
- Male or female subjects aged 8 or older with IRD (LCA or RP) caused by inherited autosomal recessive mutation in either RPE65 or LRAT.
- Subjects who have at least 2 documented kinetic visual field assessments of the same isopter(s) in at least one eye performed at least 2 years apart on the same type of equipment when the subject was between the ages of 6 and 65 years.
- If applicable, subjects who provide informed consent for the study (the requirement for informed consent may be applicable to all sites or may be waived by the IRB and/or local regulations). The parent or guardian must sign an approved informed consent form for the study for subjects younger than the age of majority.
Who cannot join
- Subjects, who in the Investigator's opinion, have any severe acute or chronic medical condition, psychiatric condition, physical examination finding or laboratory abnormality that may interfere with the interpretation of their visual function data.
- Subjects with concomitant bilateral ocular disorders that may affect visual acuity or visual fields (e.g., advanced glaucoma, optic neuritis, anterior ischemic optic neuropathy, advanced cataract, intraocular surgery).
Trial locations and contacts
9 sites in 7 countries.
9 sites in 7 countries
United States2 sites
Wilmer Eye Institute - Johns Hopkins Hospital
Baltimore, Maryland, 21287
Casey Eye Institute - Marquam Hill
Portland, Oregon, 97239-4197
Canada2 sites
Montreal Children's Hospital, McGill University Health Centre
Montreal, Quebec, H4A 3J1
The Hospital for Sick Children, Ophthalmology and Vision Sciences
Toronto, Ontario, M5G 1X8
Denmark1 site
Glostrup Hospital and National Eye Clinic at the Kennedy Center
Glostrup Municipality, Copenhagen
Germany1 site
STZ Eyetrial at the Department of Ophthalmology - University of Tübingen
Tübingen, 72076
Switzerland1 site
Jules Gonin Eye Hospital - Oculogenetic Unit
Lausanne, CH-1004
United Kingdom1 site
Moorfields Eye Hospital - Research and Treatment Centre
London, EC1V 2PD
About this study
Official title: Retrospective, Uncontrolled, Multicenter, Case History Study to Determine the Natural History of Visual Function in Subjects With Inherited Retinal Disease (IRD) Caused by Inherited Mutation of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.
Read the detailed description
This is a retrospective, uncontrolled, multicenter, case history study to determine the natural history of visual function in patients with IRD phenotypically diagnosed as LCA or RP caused by autosomal recessive mutation in RPE65 or LRAT.
Up to 60 subjects will be enrolled in this study at approximately 12 study centers in Canada, the US and Europe.
- Being tested
- No treatment: retrospective chart review
- Medical subject headings
- Leber Congenital Amaurosis, Retinitis Pigmentosa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No treatment: retrospective chart reviewOther
| Study group | Role | What they receive |
|---|---|---|
| Subjects with IRD | IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations. Receives: Other: No treatment: retrospective chart review |
What is being measured
The primary outcome is the main question the study is designed to answer.
Visual field
Measured: Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years
Secondary outcomes (1)
Visual acuity
Measured: Change in visual acuity over time. Previous assessments performed when subject was between the ages of 6 and 65 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Oct 2015 (estimated)
- Study startDec 2015
- Primary completionMar 2016
- Study completionMar 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Leber Congenital Amaurosis (LCA)Studies 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
- Time perspective
- Retrospective
- Enrolment
- 59 participants (actual)
Sponsor and investigators
- Lead sponsor
- QLT Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- David Saperstein, MD, Study director, QLT Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02575430
- Sponsor's protocol ID
- RET NAT 01
- Status last verified
- Apr 2016
- First submitted
- 9 Oct 2015
- Last updated
- 29 Apr 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Apr 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Retrospective, Uncontrolled, Multicenter, Case History Study to Determine the Natural History of Visual Function in Subjects With Inherited Retinal Disease (IRD) Caused by Inherited Mutation of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
- ClinicalTrials.gov ID
- NCT02575430
- Acronym / sponsor ID
- RET NAT 01
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 59 participants (actual)
- Lead sponsor
- QLT Inc.Industry (pharma, biotech, devices)
- Study start
- Dec 2015
- Primary completion
- Mar 2016 (actual)
- Study completion
- Mar 2016 (actual)
- First posted
- 14 Oct 2015 (estimated)
- 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.
To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.
Detailed description
This is a retrospective, uncontrolled, multicenter, case history study to determine the natural history of visual function in patients with IRD phenotypically diagnosed as LCA or RP caused by autosomal recessive mutation in RPE65 or LRAT.
Up to 60 subjects will be enrolled in this study at approximately 12 study centers in Canada, the US and Europe.
Study design
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects with IRD | – | Other: No treatment: retrospective chart reviewIRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations. |
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects with IRD phenotypically diagnosed as LCA or RP caused by autosomal recessive mutation in RPE65 or LRAT.
Key inclusion criteria (3 listed)
- Male or female subjects aged 8 or older with IRD (LCA or RP) caused by inherited autosomal recessive mutation in either RPE65 or LRAT.
- Subjects who have at least 2 documented kinetic visual field assessments of the same isopter(s) in at least one eye performed at least 2 years apart on the same type of equipment when the subject was between the ages of 6 and 65 years.
- If applicable, subjects who provide informed consent for the study (the requirement for informed consent may be applicable to all sites or may be waived by the IRB and/or local regulations). The parent or guardian must sign an approved informed consent form for the study for subjects younger than the age of majority.
Key exclusion criteria (2 listed)
- Subjects, who in the Investigator's opinion, have any severe acute or chronic medical condition, psychiatric condition, physical examination finding or laboratory abnormality that may interfere with the interpretation of their visual function data.
- Subjects with concomitant bilateral ocular disorders that may affect visual acuity or visual fields (e.g., advanced glaucoma, optic neuritis, anterior ischemic optic neuropathy, advanced cataract, intraocular surgery).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No treatment: retrospective chart review | Other | Subjects with IRD |
Primary outcome
Visual field
Time frame: Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years
1 secondary outcome
Visual acuity
Time frame: Change in visual acuity over time. Previous assessments performed when subject was between the ages of 6 and 65 years
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 Apr 2016.
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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.
David Saperstein, MD study director
QLT Inc.
9 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Leber Congenital Amaurosis (LCA) and Retinitis Pigmentosa (RP), run by QLT Inc. at 9 sites in 7 countries.
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 3 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 Apr 2016. 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 United States, Canada, Denmark, Germany, Netherlands and 2 more countries. 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?
Visual field (time frame: Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years). 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 Apr 2016.