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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

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.

Condition or disease Intervention/treatment
Leber Hereditary Optic Neuropathy Other: Patient-reported outcomes (PROs)

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 3 Years
Official Title: Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients
Actual Study Start Date : January 3, 2018
Estimated Primary Completion Date : July 31, 2019
Estimated Study Completion Date : July 31, 2019

Group/Cohort Intervention/treatment
Single-group study Other: Patient-reported outcomes (PROs)
Patient-reported outcomes (PROs)

Primary Outcome Measures :
  1. Visual Function [ Time Frame: All assessments available before enrollment ]
    Visual function will include visual examination data from medical records.

  2. 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.

  3. The 36-Item Short Form Health Survey (SF-36) [ Time Frame: Enrollment ]
    The SF-36 surveys health status and quality of life

  4. 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.

  5. 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.

Secondary Outcome Measures :
  1. 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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.


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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03295071

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Contact: Barrett Katz, MD +1 646 831 3799
Contact: Magali Taiel, MD +33 (0)7 62 89 12 52

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United States, California
Doheny Eye Center UCLA Pasadena Recruiting
Pasadena, California, United States, 91105
Contact: Wiliam Sultan    626-817-4728   
Principal Investigator: Alfredo Sadun, MD         
United States, Georgia
Emory University Hospital Recruiting
Atlanta, Georgia, United States, 30322
Contact: Lindy Dubois    404-778-4443   
Principal Investigator: Nancy Newman, MD         
United States, Massachusetts
Massachusetts Eye and Ear Infirmary Recruiting
Boston, Massachusetts, United States, 02114
Contact: Shyana Harper    617-573-3412   
Principal Investigator: Dean Cestri, MD         
United States, Pennsylvania
Wills Eye Institute Recruiting
Philadelphia, Pennsylvania, United States, 19107
Contact: Jeanie Carpenter    215-928-3163   
Contact: Maria Massini    +1 215-825/4725   
Principal Investigator: Mark Moster, MD         
United States, Texas
Alkek Eye Center Recruiting
Houston, Texas, United States, 77030
Contact: April Leger    713-798-4123   
Principal Investigator: Rod Foroozan, MD         
CHU d'Angers Recruiting
Angers, France, 49100
Contact: Jeanne Muller   
Principal Investigator: Stephanie Leruez, MD         
CHNO Les Quinze Vingts Recruiting
Paris, France, 75012
Contact: Lise Plaine    +33140021456   
Principal Investigator: Catherine Vignal, MD         
Ospedale Bellaria Recruiting
Bologna, Italy, 40139
Contact: Lidia Di Vito    +39514966112   
Principal Investigator: Chiara La Morgia, MD         
Ospedale San Raffaele Recruiting
Milano, Italy, 20132
Contact: Francesca Calcagno    +39 3398092869   
Principal Investigator: Francesco Bandello, MD         
Institut Catala de Retina Recruiting
Barcelona, Spain, 08022
Contact: Antonio Morilla    +34 93 434 05 53   
Principal Investigator: Lorena Castillo, MD         
United Kingdom
Moorfields Eye Hospital Recruiting
London, Greater London, United Kingdom, EC1V 2PD
Contact: Rasha Jorany   
Principal Investigator: Patrick Yu Wai Man, MD         
Sponsors and Collaborators
GenSight Biologics
Additional Information:
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Responsible Party: GenSight Biologics Identifier: NCT03295071    
Other Study ID Numbers: GS010_Registry_001
First Posted: September 27, 2017    Key Record Dates
Last Update Posted: April 24, 2019
Last Verified: April 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by GenSight Biologics:
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
Additional relevant MeSH terms:
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Optic Nerve Diseases
Optic Atrophy, Hereditary, Leber
Nervous System Diseases
Cranial Nerve Diseases
Eye Diseases
Optic Atrophies, Hereditary
Optic Atrophy
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases