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REALITY LHON Registry (REALITY)

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ClinicalTrials.gov Identifier: NCT03295071
Recruitment Status : Recruiting
First Posted : September 27, 2017
Last Update Posted : May 7, 2018
Sponsor:
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)

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 : March 2019
Estimated Study Completion Date : March 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



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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.

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 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.

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


Contacts
Contact: Barrett Katz, MD +1 646 831 3799 bkatz@gensight-biologics.com
Contact: Serge Fitoussi, MD +33 (0)6 65 75 78 41 sfitoussi@gensight-biologics.com

Locations
United States, Pennsylvania
Wills Eye Institute Recruiting
Philadelphia, Pennsylvania, United States, 19107
Contact: Maria Massini       mmassini@willseye.org   
Principal Investigator: Mark Moster, MD         
Sponsors and Collaborators
GenSight Biologics

Additional Information:
Responsible Party: GenSight Biologics
ClinicalTrials.gov Identifier: NCT03295071     History of Changes
Other Study ID Numbers: GS010_Registry_001
First Posted: September 27, 2017    Key Record Dates
Last Update Posted: May 7, 2018
Last Verified: December 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