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Trial record 1 of 1 for:    NCT03295071
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This study is not yet open for participant recruitment.
Verified September 2017 by GenSight Biologics
ClinicalTrials.gov Identifier:
First Posted: September 27, 2017
Last Update Posted: September 29, 2017
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.
Information provided by (Responsible Party):
GenSight Biologics

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 Intervention
Leber Hereditary Optic Neuropathy Other: Patient-reported outcomes (PROs)

Study Type: Observational [Patient Registry]
Study Design: 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

Resource links provided by NLM:

Further study details as provided by GenSight Biologics:

Primary Outcome Measures:
  • 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.

Secondary Outcome Measures:
  • 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

Estimated Enrollment: 50
Anticipated Study Start Date: October 2017
Estimated Study Completion Date: March 2019
Estimated Primary Completion Date: March 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Single-group study Other: Patient-reported outcomes (PROs)
Patient-reported outcomes (PROs)


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.

Ages Eligible for Study:   Child, Adult, Senior
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 and 3 years 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;
  • Subjects who are currently taking supplement treatment (e.g. vitamins) will not be excluded from this study.

Exclusion Criteria:

  • Subjects who received any investigational drug, or Idebenone, or participated in any LHON-related interventional clinical trial during the observational period;
  • Subjects without medical charts data available.
  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT03295071

Contact: Mohamed GENEAD, MD +1-617-455-5077 mgenead@gensight-biologics.com
Contact: Sonia VALERO, PharmD +33 1-85-76-28-18 svalero@gensight-biologics.com

Sponsors and Collaborators
GenSight Biologics
  More Information

Additional Information:
Responsible Party: GenSight Biologics
ClinicalTrials.gov Identifier: NCT03295071     History of Changes
Other Study ID Numbers: GS010_Registry_001
First Submitted: September 22, 2017
First Posted: September 27, 2017
Last Update Posted: September 29, 2017
Last Verified: September 2017

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:
Optic Nerve Diseases
Optic Atrophy, Hereditary, Leber
Cranial Nerve Diseases
Nervous System Diseases
Eye Diseases
Optic Atrophies, Hereditary
Optic Atrophy
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases