REALITY LHON Registry (REALITY)
|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. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03295071|
Recruitment Status : Completed
First Posted : September 27, 2017
Last Update Posted : February 8, 2021
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|Condition or disease||Intervention/treatment|
|Leber Hereditary Optic Neuropathy||Other: Patient-reported outcomes (PROs)|
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 Type :||Observational [Patient Registry]|
|Actual Enrollment :||44 participants|
|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|
|Actual Primary Completion Date :||July 1, 2020|
|Actual Study Completion Date :||July 1, 2020|
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).
Other: Patient-reported outcomes (PROs)
Patient-reported outcomes (PROs)
- 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.
- 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
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, Older Adult|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Probability Sample|
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.
- 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;
- 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.
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
|United States, California|
|Doheny Eye Center UCLA Pasadena|
|Pasadena, California, United States, 91105|
|United States, Georgia|
|Emory University Hospital|
|Atlanta, Georgia, United States, 30322|
|United States, Massachusetts|
|Massachusetts Eye and Ear Infirmary|
|Boston, Massachusetts, United States, 02114|
|United States, Pennsylvania|
|Wills Eye Institute|
|Philadelphia, Pennsylvania, United States, 19107|
|United States, Texas|
|Alkek Eye Center|
|Houston, Texas, United States, 77030|
|Angers, France, 49100|
|CHNO Les Quinze Vingts|
|Paris, France, 75012|
|Bologna, Italy, 40139|
|Ospedale San Raffaele|
|Milano, Italy, 20132|
|Institut Catala de Retina|
|Barcelona, Spain, 08022|
|Moorfields Eye Hospital|
|London, Greater London, United Kingdom, EC1V 2PD|
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
|Responsible Party:||GenSight Biologics|
|Other Study ID Numbers:||
|First Posted:||September 27, 2017 Key Record Dates|
|Last Update Posted:||February 8, 2021|
|Last Verified:||July 2020|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Heredity Optic Atrophy
Leber Hereditary Optic Atrophy
Leber Hereditary Optic Neuropathy
Hereditary Eye Diseases
Inherited retinal dystrophies or degeneration
Inborn Genetic Disease
Nervous System Diseases
Heredodegenerative Disorders of the Nervous System
Optic Nerve Diseases
Optic Atrophy, Hereditary, Leber
Nervous System Diseases
Cranial Nerve Diseases
Optic Atrophies, Hereditary
Heredodegenerative Disorders, Nervous System
Eye Diseases, Hereditary
Genetic Diseases, Inborn