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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. Identifier: NCT03295071
Recruitment Status : Recruiting
First Posted : September 27, 2017
Last Update Posted : April 24, 2019
Information provided by (Responsible Party):
GenSight Biologics

Tracking Information
First Submitted Date September 22, 2017
First Posted Date September 27, 2017
Last Update Posted Date April 24, 2019
Actual Study Start Date January 3, 2018
Estimated Primary Completion Date July 31, 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: September 26, 2017)
  • 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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: September 26, 2017)
Economic burden of disease [ Time Frame: Enrollment ]
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
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title REALITY LHON Registry
Official Title Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients
Brief Summary

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.

Detailed Description Not Provided
Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Cross-Sectional
Target Follow-Up Duration 3 Years
Biospecimen Not Provided
Sampling Method Probability Sample
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.

Condition Leber Hereditary Optic Neuropathy
Intervention Other: Patient-reported outcomes (PROs)
Patient-reported outcomes (PROs)
Study Groups/Cohorts Single-group study
Intervention: Other: Patient-reported outcomes (PROs)
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: September 26, 2017)
Original Estimated Enrollment Same as current
Estimated Study Completion Date July 31, 2019
Estimated Primary Completion Date July 31, 2019   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • 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;

Exclusion Criteria:

  • 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.
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contact: Barrett Katz, MD +1 646 831 3799
Contact: Magali Taiel, MD +33 (0)7 62 89 12 52
Listed Location Countries France,   Italy,   Spain,   United Kingdom,   United States
Removed Location Countries  
Administrative Information
NCT Number NCT03295071
Other Study ID Numbers GS010_Registry_001
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party GenSight Biologics
Study Sponsor GenSight Biologics
Collaborators Not Provided
Investigators Not Provided
PRS Account GenSight Biologics
Verification Date April 2019