Leber Hereditary Optic NeuropathyREALITYNCT03295071
REALITY LHON Registry
An observational study of Leber Hereditary Optic Neuropathy, run by GenSight Biologics at 11 sites in 5 countries.
Trial summary
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Leber Hereditary Optic Neuropathy
- What is being tested?
- Patient-reported outcomes (PROs)
- How many people
- 44 participants
- Where
- 11 sitesin 5 countries
- Study dates
- 3 Jan 2018to 1 Jul 2020
- How long will I take part?
- 3 Years
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study will recruit at least 50 affected LHON subjects (both adult and pediatric) from global clinical sites at the following countries, but not limited to: Spain, Italy, France, United Kingdom, and the United States. Efforts will be done to maintain the population of at least 50 affected LHON subjects. Recruitment efforts of recruiting approximately 75% of eligible subjects with 11778/ND4 mutation and 30% of eligible subjects under the age of 18 at the time of index date, wherever possible, will be done at the study level.
Who may be able to join
- Subjects who have a confirmed and genotyped diagnosis of LHON;
- Subjects with visual function outcomes data including at least 2 visual function assessments between 1 year and 3 years (+/- 4 weeks) after vision loss;
- Subjects who are willing and able to provide written informed consent if required as per local regulations;
- For LHON subjects under the age of 18 years, permission from a legal guardian to participate in the study;
Who cannot join
- Subjects who received any investigational drug, or participated in any LHON-related interventional clinical trial during the observational period;
- Subjects without medical charts data available.
Trial locations and contacts
11 sites in 5 countries.
11 sites in 5 countries
United States5 sites
Emory University Hospital
Atlanta, Georgia, 30322
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, 02114
Alkek Eye Center
Houston, Texas, 77030
Doheny Eye Center UCLA Pasadena
Pasadena, California, 91105
Wills Eye Institute
Philadelphia, Pennsylvania, 19107
United Kingdom1 site
Moorfields Eye Hospital
London, Greater London, EC1V 2PD
About this study
Official title: Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs).
Read the detailed description
The purpose of this study is to understand the evolution of visual functional and structural changes and other associated symptoms in patients with LHON. The relation between genetic, lifestyle and/or environmental factors and the LHON disease will be described, and a better understanding of the natural history of LHON disease and the healthcare associated to with the disease will be sought.
In addition, we would also like to understand the economic burden for patients and their families with LHON resulting from direct and indirect costs they may have because of their disease.
- Conditions
- Leber Hereditary Optic Neuropathy
- Being tested
- Patient-reported outcomes (PROs)
- Keywords
- Heredity Optic Atrophy, Leber Hereditary Optic Atrophy, Leber Hereditary Optic Neuropathy, Eye Diseases, Hereditary Eye Diseases, Inherited retinal dystrophies or degeneration, Inborn Genetic Disease, Gene Therapy, Intravitreal Injections, Mitochondrial Disease, AAV2 Vectors, Nervous System Diseases, Neurodegenerative Disease, Heredodegenerative Disorders of the Nervous System
- Medical subject headings
- Optic Atrophy, Hereditary, Leber, Eye Diseases, Eye Diseases, Hereditary, Genetic Diseases, Inborn, Mitochondrial Diseases, Nervous System Diseases, Neurodegenerative Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patient-reported outcomes (PROs)Other
Patient-reported outcomes (PROs)
| Study group | Role | What they receive |
|---|---|---|
| Single-group study | This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs). Receives: Other: Patient-reported outcomes (PROs) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Visual Function
Visual function will include visual examination data from medical records.
Measured: All assessments available before enrollment
The National Eye Institute Visual Function Questionnaire (VFQ)-25
The National Eye Institute Visual Function Questionnaire (NEI-VFQ or VFQ)-25 is a valid and reliable 25-item version of the 51-item VFQ.
Measured: Enrollment
The 36-Item Short Form Health Survey (SF-36)
The SF-36 surveys health status and quality of life
Measured: Enrollment
Child Health Questionnaire (CHQ)
The CHQ uses the same structure and methodological approach as the SF-36 and is designed and normed for children from 5-to-18 years of age.
Measured: Enrollment
EuroQol-5 Dimension (EQ-5D)-5L
The EuroQol-5 Dimension-5 Level (EQ-5D-5L) is a generic HRQoL instrument that is widely used as a PRO measure.
Measured: Enrollment
Secondary outcomes (1)
Economic burden of disease
Data will be gathered by questionnaire at cross-sectional survey. Direct costs and indirect costs resulting from LHON will be estimated by all enrolled subjects. Direct costs will include the medical and non-medical direct costs due to LHON
Measured: Enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Sep 2017
- Study start3 Jan 2018
- Primary completion1 Jul 2020
- Study completion1 Jul 2020
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 Hereditary Optic NeuropathyStudies 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
- Cross-sectional
- Enrolment
- 44 participants (actual)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- GenSight Biologics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03295071
- Sponsor's protocol ID
- GS010_Registry_001
- Acronym
- REALITY
- Status last verified
- Feb 2026
- First submitted
- 22 Sep 2017
- Last updated
- 2 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, Vignal-Clermont C, Wang AG, Donahue SP, Leroy BP, Sergott RC, Klopstock T, Sadun AA, Rebolleda Fernandez G, Chwalisz BK, Banik R, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA; the LHON Study Group. Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation. Ophthalmol Ther. 2023 Feb;12(1):401-429. doi: 10.1007/s40123-022-00611-x. Epub 2022 Nov 30.
PubMed 36449262Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA. Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison. Front Neurol. 2021 May 24;12:662838. doi: 10.3389/fneur.2021.662838. eCollection 2021.
PubMed 34108929
Study at a glance
From the registry record, last updated by the sponsor on 2 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients
- ClinicalTrials.gov ID
- NCT03295071
- Acronym / sponsor ID
- REALITY / GS010_Registry_001
- Conditions
- Leber Hereditary Optic Neuropathy
- Keywords
- Heredity Optic Atrophy, Leber Hereditary Optic Atrophy, Leber Hereditary Optic Neuropathy, Eye Diseases, Hereditary Eye Diseases, Inherited retinal dystrophies or degeneration, Inborn Genetic Disease, Gene Therapy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 44 participants (actual)
- Lead sponsor
- GenSight BiologicsIndustry (pharma, biotech, devices)
- Study start
- 3 Jan 2018 (actual)
- Primary completion
- 1 Jul 2020 (actual)
- Study completion
- 1 Jul 2020 (actual)
- First posted
- 27 Sep 2017 (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.
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs).
Detailed description
The purpose of this study is to understand the evolution of visual functional and structural changes and other associated symptoms in patients with LHON. The relation between genetic, lifestyle and/or environmental factors and the LHON disease will be described, and a better understanding of the natural history of LHON disease and the healthcare associated to with the disease will be sought.
In addition, we would also like to understand the economic burden for patients and their families with LHON resulting from direct and indirect costs they may have because of their disease.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Target follow-up
- 3 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Single-group study | – | Other: Patient-reported outcomes (PROs)This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study will recruit at least 50 affected LHON subjects (both adult and pediatric) from global clinical sites at the following countries, but not limited to: Spain, Italy, France, United Kingdom, and the United States. Efforts will be done to maintain the population of at least 50 affected LHON subjects. Recruitment efforts of recruiting approximately 75% of eligible subjects with 11778/ND4 mutation and 30% of eligible subjects under the age of 18 at the time of index date, wherever possible, will be done at the study level.
Key inclusion criteria (4 listed)
- Subjects who have a confirmed and genotyped diagnosis of LHON;
- Subjects with visual function outcomes data including at least 2 visual function assessments between 1 year and 3 years (+/- 4 weeks) after vision loss;
- Subjects who are willing and able to provide written informed consent if required as per local regulations;
- For LHON subjects under the age of 18 years, permission from a legal guardian to participate in the study;
Key exclusion criteria (2 listed)
- Subjects who received any investigational drug, or participated in any LHON-related interventional clinical trial during the observational period;
- Subjects without medical charts data available.
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 |
|---|---|---|
| Patient-reported outcomes (PROs)Patient-reported outcomes (PROs) | Other | Single-group study |
Primary outcome
Visual Function
Time frame: All assessments available before enrollment
Visual function will include visual examination data from medical records.
The National Eye Institute Visual Function Questionnaire (VFQ)-25
Time frame: Enrollment
The National Eye Institute Visual Function Questionnaire (NEI-VFQ or VFQ)-25 is a valid and reliable 25-item version of the 51-item VFQ.
The 36-Item Short Form Health Survey (SF-36)
Time frame: Enrollment
The SF-36 surveys health status and quality of life
Child Health Questionnaire (CHQ)
Time frame: Enrollment
The CHQ uses the same structure and methodological approach as the SF-36 and is designed and normed for children from 5-to-18 years of age.
EuroQol-5 Dimension (EQ-5D)-5L
Time frame: Enrollment
The EuroQol-5 Dimension-5 Level (EQ-5D-5L) is a generic HRQoL instrument that is widely used as a PRO measure.
1 secondary outcome
Economic burden of disease
Time frame: Enrollment
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 2 Mar 2026.
- Derived from this study: PubMed 36449262Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, Vignal-Clermont C, Wang AG, Donahue SP, Leroy BP, Sergott RC, Klopstock T, Sadun AA, Rebolleda Fernandez G, Chwalisz BK, Banik R, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA; the LHON Study Group. Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation. Ophthalmol Ther. 2023 Feb;12(1):401-429. doi: 10.1007/s40123-022-00611-x. Epub 2022 Nov 30.
- Derived from this study: PubMed 34108929Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA. Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison. Front Neurol. 2021 May 24;12:662838. doi: 10.3389/fneur.2021.662838. eCollection 2021.
- GenSight Biologics WebsiteLink provided by the sponsor.
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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.
11 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Leber Hereditary Optic Neuropathy, run by GenSight Biologics at 11 sites in 5 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 4 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 2 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in United States, France, Italy, Spain, 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?
Visual Function (time frame: All assessments available before enrollment). The study lists 5 primary outcomes in all. 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 NCT03295071, 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 2 Mar 2026.