Leber Congenital AmaurosisNCT02714816
Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
An observational study of Leber Congenital Amaurosis, run by MeiraGTx UK II Ltd at 2 sites in 2 countries.
Trial summary
MGT005 is a natural history study to collect longitudinal prospective data from patients with Leber Congenital Amaurosis associated with defects in RPE65. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- Leber Congenital Amaurosis
- How many people
- 37 participants
- Where
- 2 sitesin 2 countries
- Study dates
- Apr 2016to 22 Jul 2023
- 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: Patients with RPE65-LCA condition
Who may be able to join
- Patients with RPE65 associated retinal dystrophy
- Minimum subject age of 3 years
- Able to give consent/parent or guardian able to give consent
Who cannot join
- Patients unable or unwilling to undertake consent or clinical testing
- Have received a gene therapy treatment in both eyes
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
About this study
MGT005 is a natural history study to collect longitudinal prospective data from patients with Leber Congenital Amaurosis associated with defects in RPE65.
Read the detailed description
Leber Congenital Amaurosis (LCA) is a diagnosis for a group of severe, autosomal recessively inherited rod - cone dystrophies that typically result in complete visual loss in the third or fourth decade of life. One form, LCA2, is caused by a mutation in the gene encoding RPE56, an RPE-specific 65-kDa isomerase. Non-functional RPE65 results in photoreceptor cells that are unable to respond to light resulting in these patients being visually impaired.
In preparation for human clinical trials, a detailed prospective phenotypic study will be undertaken to investigate the natural history of RPE65-LCA. Such a study will help identify suitable patients for therapeutic intervention. Furthermore through greater phenotyping an optimal window for intervention and specific parameters to help quantify effect and identify clinical end points may have been ascertained .
- Conditions
- Leber Congenital Amaurosis
- Medical subject headings
- Leber Congenital Amaurosis
What is being measured
The primary outcome is the main question the study is designed to answer.
Analysis of retinal structure and function
Retinal structure will be analysed using Adaptive optics and SD-OCT and Fundal autofluorescence. This will be correlated with assessment of visual acuity, psychophysical visual assessment, visual mobility, retinal sensitivity and visual fields
Measured: 6 years
Secondary outcomes (5)
Quality of Life Questionnaires
Assessment of Visual impairment using appropriate, validated questionnaires
Measured: 6 years
Retinal Sensitivity
To be assessed in Microperimetry
Measured: 6 years
Retinal Structural analysis
Retinal Structure analysis with Adaptive Optics
Measured: 6 years
Fundal Autofluorescence
Presence or Absence
Measured: 6 years
Assessment of Visual Fields
Assessment of Visual Fields with analysis of hill of vision
Measured: 6 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2016 (estimated)
- Study startApr 2016
- Primary completion22 Jul 2023
- Study completion22 Jul 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Leber Congenital AmaurosisStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 37 participants (actual)
Sponsor and investigators
- Lead sponsor
- MeiraGTx UK II Ltd
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Michel Michealides, Prof, Principal investigator, UCL/Moorfileds
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02714816
- Sponsor's protocol ID
- MGT005
- Status last verified
- Sep 2026
- First submitted
- 8 Mar 2016
- Last updated
- 21 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M. Retinal Structure in RPE65-Associated Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47.
PubMed 32347917Kumaran N, Rubin GS, Kalitzeos A, Fujinami K, Bainbridge JWB, Weleber RG, Michaelides M. A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3330-3339. doi: 10.1167/iovs.18-23873.
PubMed 30025081
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
- ClinicalTrials.gov ID
- NCT02714816
- Acronym / sponsor ID
- MGT005
- Conditions
- Leber Congenital Amaurosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 37 participants (actual)
- Lead sponsor
- MeiraGTx UK II LtdIndustry (pharma, biotech, devices)
- Study start
- Apr 2016
- Primary completion
- 22 Jul 2023 (actual)
- Study completion
- 22 Jul 2023 (actual)
- First posted
- 22 Mar 2016 (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.
MGT005 is a natural history study to collect longitudinal prospective data from patients with Leber Congenital Amaurosis associated with defects in RPE65.
Detailed description
Leber Congenital Amaurosis (LCA) is a diagnosis for a group of severe, autosomal recessively inherited rod - cone dystrophies that typically result in complete visual loss in the third or fourth decade of life. One form, LCA2, is caused by a mutation in the gene encoding RPE56, an RPE-specific 65-kDa isomerase. Non-functional RPE65 results in photoreceptor cells that are unable to respond to light resulting in these patients being visually impaired.
In preparation for human clinical trials, a detailed prospective phenotypic study will be undertaken to investigate the natural history of RPE65-LCA. Such a study will help identify suitable patients for therapeutic intervention. Furthermore through greater phenotyping an optimal window for intervention and specific parameters to help quantify effect and identify clinical end points may have been ascertained .
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with RPE65-LCA condition
Key inclusion criteria (3 listed)
- Patients with RPE65 associated retinal dystrophy
- Minimum subject age of 3 years
- Able to give consent/parent or guardian able to give consent
Key exclusion criteria (2 listed)
- Patients unable or unwilling to undertake consent or clinical testing
- Have received a gene therapy treatment in both eyes
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
Analysis of retinal structure and function
Time frame: 6 years
Retinal structure will be analysed using Adaptive optics and SD-OCT and Fundal autofluorescence. This will be correlated with assessment of visual acuity, psychophysical visual assessment, visual mobility, retinal sensitivity and visual fields
5 secondary outcomes
Quality of Life Questionnaires
Time frame: 6 years
Retinal Sensitivity
Time frame: 6 years
Retinal Structural analysis
Time frame: 6 years
Fundal Autofluorescence
Time frame: 6 years
Assessment of Visual Fields
Time frame: 6 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 21 Sep 2026.
- Derived from this study: PubMed 32347917Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M. Retinal Structure in RPE65-Associated Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47.
- Derived from this study: PubMed 30025081Kumaran N, Rubin GS, Kalitzeos A, Fujinami K, Bainbridge JWB, Weleber RG, Michaelides M. A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3330-3339. doi: 10.1167/iovs.18-23873.
- 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.
Michel Michealides, Prof principal investigator
UCL/Moorfileds
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Leber Congenital Amaurosis, run by MeiraGTx UK II Ltd at 2 sites in 2 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 21 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States, United Kingdom. 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?
Analysis of retinal structure and function (time frame: 6 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02714816, which also lists 2 linked publications.
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 21 Sep 2026.