Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON)

NCT02796274 | Completed Results

• 1 other identifier: SNT-CRS-002
• Study Type: observational
• Target: 219
• Locations: 7 countries
• Sites: 21

Brief Summary

The purpose of this survey is to collect visual acuity data from patients with LHON in order to establish the clinical course (natural history) and visual acuity outcomes in patients with a genetically confirmed diagnosis of LHON. In addition, this survey will generate data that will serve as comparator for the open-label study SNT-IV-006.

Conditions

Leber's Hereditary Optic Neuropathy (LHON)

Outcome Measures

Primary Outcomes (1)

• In Eyes With VA Assessment Made ≤1 Year After Onset of Symptoms: Proportion of Eyes With Clinically Relevant Recovery (CRR) of VA (Measured by Change in ETDRS Letters) From Baseline (BL) or in Which BL VA Better Than 1.0 logMAR Was Maintained at 12 Months

  Clinically Relevant Recovery (CRR) is defined as a VA improvement from off-chart (ETDRS) to 5 letters on-chart, or an on-chart improvement of 10 letters.

  12 months

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a genetically confirmed diagnosis of LHON

You may qualify if:

• age ≥ 12 years
• the onset of symptoms is dated after 1999 and is well documented (at least month of onset of symptoms is known for each eye)
• at least two VA assessments are available within 5 years of onset of symptoms and prior to idebenone use
• have a genetic diagnosis for LHON for one of the following mitochondrial DNA (mtDNA) mutations: G11778A, G3460A, T14484C

You may not qualify if:

• any participation in an interventional clinical trial after the onset of symptoms
• any other cause of visual impairment (e.g. glaucoma, diabetic retinopathy, AIDS related visual impairment, cataract, macular degeneration, etc.) or any active ocular disorder (uveitis, infections, inflammatory retinal disease, thyroid eye disease, etc.) during the data collection period

Sponsors & Collaborators

• Santhera Pharmaceuticals: lead

Study Sites (21)

CHU Saint-Pierre

Brussels, Belgium

Location

Cliniques Universitaire Saint-Luc

Brussels, Belgium

Location

Universitair Ziekenhuis Gent

Ghent, Belgium

Location

C. H. U. Sart Tilman

Liège, Belgium

Location

CHU Angers - Hôpital Hôtel Dieu

Angers, France

Location

Hopital Roger Salengro - CHU Lille

Lille, France

Location

Fondation Ophtalmologique Adolphe de Rothschild

Paris, France

Location

CHU Reims - Hôpital Robert Debré

Reims, France

Location

CHU Strasbourg - Hôpital Hautepierre

Strasbourg, France

Location

Justus-Liebig-Universitaet Giessen

Giessen, Germany

Location

Universitaetsklinikum Heidelberg

Heidelberg, Germany

Location

Friedrich-Baur-Institut

München, Germany

Location

Azienda Ospedaliera Universitaria Policlinico G. Martino

Messina, Italy

Location

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, Italy

Location

Università di Pisa

Pisa, Italy

Location

G. B. Bietti Fondazione - IRCCS

Rome, Italy

Location

Maastricht University Medical Center

Maastricht, Netherlands

Location

Oogziekenhuis Rotterdam

Rotterdam, Netherlands

Location

Haukeland Universitetssykehus

Bergen, Norway

Location

University Hospital of Wales

Cardiff, United Kingdom

Location

Queen's Hospital

London, United Kingdom

Location

MeSH Terms

Conditions

Optic Atrophy, Hereditary, Leber

Condition Hierarchy (Ancestors)

Optic Atrophies, Hereditary; Optic Atrophy; Optic Nerve Diseases; Cranial Nerve Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Eye Diseases, Hereditary; Eye Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Vanessa Dos Reis Ferreira
• Organization: Santhera Pharmaceuticals

office@santhera.com

+41 61 906 89 50

Study Officials

• Thomas Klopstock, Prof. Dr.

  Friedrich-Baur-Institut, Muenchen, Germany

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: LTE60
• Restrictive Agreement: Yes

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 7, 2016
• First Posted: June 10, 2016
• Study Start: May 1, 2016
• Primary Completion: March 1, 2018
• Study Completion: July 1, 2018
• Last Updated: January 30, 2020
• Results First Posted: January 30, 2020

Record last verified: 2020-01

Locations

BE (4); FR (5); DE (3); IT (4); GB (2); NO (1); NL (2)