Leber's Hereditary Optic Neuropathy (LHON)NCT02796274
Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON)
An observational study of Leber's Hereditary Optic Neuropathy (LHON), run by Santhera Pharmaceuticals at 21 sites in 7 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Leber's Hereditary Optic Neuropathy (LHON)
- How many people
- 219 participants
- Where
- 21 sitesin 7 countries
- Study dates
- May 2016to Jul 2018
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with a genetically confirmed diagnosis of LHON
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
21 sites in 7 countries.
21 sites in 7 countries
France5 sites
CHU Angers - Hôpital Hôtel Dieu
Angers
Hopital Roger Salengro - CHU Lille
Lille
Fondation Ophtalmologique Adolphe de Rothschild
Paris
CHU Reims - Hôpital Robert Debré
Reims
CHU Strasbourg - Hôpital Hautepierre
Strasbourg
Belgium4 sites
CHU Saint-Pierre
Brussels
Cliniques Universitaire Saint-Luc
Brussels
Universitair Ziekenhuis Gent
Ghent
C. H. U. Sart Tilman
Liège
Italy4 sites
Azienda Ospedaliera Universitaria Policlinico G. Martino
Messina
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan
Università di Pisa
Pisa
G. B. Bietti Fondazione - IRCCS
Rome
Germany3 sites
Justus-Liebig-Universitaet Giessen
Giessen
Universitaetsklinikum Heidelberg
Heidelberg
Friedrich-Baur-Institut
München
Netherlands2 sites
Maastricht University Medical Center
Maastricht
Oogziekenhuis Rotterdam
Rotterdam
United Kingdom2 sites
University Hospital of Wales
Cardiff
Queen's Hospital
London
About this study
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.
- Medical subject headings
- Optic Atrophy, Hereditary, Leber
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2016 (estimated)
- Study startMay 2016
- Primary completionMar 2018
- Study completionJul 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Leber's Hereditary Optic Neuropathy (LHON)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 219 participants (actual)
Sponsor and investigators
- Lead sponsor
- Santhera Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Thomas Klopstock, Prof. Dr., Principal investigator, Friedrich-Baur-Institut, Muenchen, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02796274
- Sponsor's protocol ID
- SNT-CRS-002
- Status last verified
- Jan 2020
- First submitted
- 7 Jun 2016
- Last updated
- 30 Jan 2020
- Results posted
- Yes, on ClinicalTrials.gov
Publications
Krawczynski MR, van Everdingen J, Leroy BP, Verny C, Bauer NJC, Andris C, Lorenz B, Votruba M, Priglinger C, Jurkute N, Lloria X, Silva M, Carelli V, Yu-Wai-Man P, Klopstock T. Visual acuity changes in idebenone treatment-naive patients with Leber hereditary optic neuropathy: insights from the CRS-2 study. J Neurol. 2026 Oct 28;273(11):690. doi: 10.1007/s00415-026-14181-6.
PubMed 42955336
Study at a glance
From the registry record, last updated by the sponsor on 30 Jan 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON)
- ClinicalTrials.gov ID
- NCT02796274
- Acronym / sponsor ID
- SNT-CRS-002
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 219 participants (actual)
- Lead sponsor
- Santhera PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- May 2016
- Primary completion
- Mar 2018 (actual)
- Study completion
- Jul 2018 (actual)
- First posted
- 10 Jun 2016 (estimated)
- Results
- Posted 30 Jan 2020
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a genetically confirmed diagnosis of LHON
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Time frame: 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.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jan 2020.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 42955336Krawczynski MR, van Everdingen J, Leroy BP, Verny C, Bauer NJC, Andris C, Lorenz B, Votruba M, Priglinger C, Jurkute N, Lloria X, Silva M, Carelli V, Yu-Wai-Man P, Klopstock T. Visual acuity changes in idebenone treatment-naive patients with Leber hereditary optic neuropathy: insights from the CRS-2 study. J Neurol. 2026 Oct 28;273(11):690. doi: 10.1007/s00415-026-14181-6.
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New Non-invasive Modalities for Assessing Retinal Structure and Function
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Stem Cell Ophthalmology Treatment Study II
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Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients
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Active, not recruitingPhase 3
A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation
Leber Hereditary Optic Neuropathy (LHON)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Thomas Klopstock, Prof. Dr. principal investigator
Friedrich-Baur-Institut, Muenchen, Germany
21 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Leber's Hereditary Optic Neuropathy (LHON), run by Santhera Pharmaceuticals at 21 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 30 Jan 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 21 sites in France, Belgium, Italy, Germany, Netherlands and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 30 Jan 2020). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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 (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02796274, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jan 2020.