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AzTrials

Leber's Hereditary Optic Neuropathy (LHON)NCT05555784

Evaluation of Impact of Disease and Visual Disability on Quality of Life and Loss of Independence of Patients Living in France With Leber's Hereditary Optic Neuropathy (LHON) Through Qualitative and Quantitative Data Collection

An observational study of Leber's Hereditary Optic Neuropathy (LHON), run by Argo Sante at 1 site in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial genetic disorder characterized by optic nerve atrophy due to the degeneration of retinal ganglion cells, which leads to acute visual loss. Males are more likely to develop optic neuropathy than women. Read more about this study

Who is it for?
Ages 20 to 60 years
How many people
12 participants
Where
1 siteFrance
Study dates
4 Aug 2022to 2 Feb 2023
Phase
Observational
Are there results?
None posted in the registry

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 20 to 60 years
  • All sexes
  • No healthy volunteers
  • Adult

Study population: Adults living in France diagnosed with Leber's hereditary optic neuropathy (LHON) for more than twelve months and less than five years

Who may be able to join

  • 20 to 59 years old
  • Living in France and fluent in French
  • Diagnosed with Leber's hereditary optic neuropathy (LHON) for more than twelve months and less than five years
  • Suffering from the mutation ND4 (m.11778G>A)
  • Willing to participate in the study

Who cannot join

  • Not willing to participate in the study
  • Patients treated/cured with gene therapy rAAV2/2-ND4 (GS010, Lumevoq®)
  • Patients diagnosed there are more than five years or less than twelve months
  • Patients suffering from disabilities not related to LHON
  • Person or person having a member of their family working in ophthalmology-related industries or profession, in clinical research or associations of patients, or involved in health governmental agencies
  • Person having difficulties reading or speaking French, unable to answer the questions

Trial locations and contacts

1 site in 1 country.

France1 site

  • Argo Sante

    Orléans, 45160

Other trials in France

About this study

Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial genetic disorder characterized by optic nerve atrophy due to the degeneration of retinal ganglion cells, which leads to acute visual loss.

Males are more likely to develop optic neuropathy than women. They experience blurring or clouding of vision in one eye. The fellow eye develops similar symptoms sequentially with a delay of weeks.

Read more

This sudden vision loss has devastating consequences on the life course of young men, with the impact of LHON on their quality of life and loss of independence.

Yet, data describing the impacts of LHON on the life-course of patients is lacking, with very little data available in the literature.

This study aims to understand the life of patients living with LHON disease through the analysis of the impact of LHON on the quality of life and loss of independence of patients living in France and to accurately describe the consequences of the disease on their social, familial and professional life.

Read the detailed description

The protocol presents a retrospective study. Patients living in France with LOHN shall be informed about it and offered to enroll through patients' associations or experts involved. As part of the consent process, participants should be informed of the nature of the study and the objectives and that the replies would remain confidential and anonymous.

After a brief screening, the study divides into two parts: one aiming at collecting quantitative data through 3 standard quality of life questionnaires, and one survey specially written for this study (sample of 25 patients, duration 2 hours). The second is a qualitative interview to deep dive into their personal, social, familial, and professional life (10 patients, duration is 50 minutes). The study contains the detailed sections:

  • Screening
  • A survey specially designed for the study
  • Quality of life through EQ-5D-5L
  • Quality of life through NEI VFQ- 25, specific for patients suffering from glaucoma
  • Quality of life through ARAMAV questionnaire specific for visually impaired people
  • An in-depth qualitative interview, specially designed to fit the requirements of the study
Keywords
Leber's hereditary optic neuropathy (LHON), quality of life, loss of independence, social life, family, socio-professional, France
Medical subject headings
Optic Atrophy, Hereditary, Leber

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Describe the disease impact on quality of life through qualitative data of loss of independence of patients suffering from LHON and living in France

    Descriptive analysis of answers given to ad-hoc questionnaire and qualitative analysis of interviews

    Measured: Once at enrollment

Secondary outcomes (6)

  1. Measure the general quality of life

    The 5-level EQ-5D version (EQ-5D-5L) comprises five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension has 5 levels: no problems, slight problems, moderate problems, severe problems and extreme problems. It gives a score where 1 represents the better life that ones can imagine, and 0 stands for death. The EQ VAS records the patient's self-rated health on a vertical visual analogue scale, where the endpoints are labelled 'The best health you can imagine' and 'The worst health you can imagine'. The VAS can be used as a quantitative measure of health outcome that reflect the patient's own judgement.

    Measured: Once at enrollment

  2. Measure the vision-related quality of life

    NEIVFQ-25 (National Eye Institute Visual Functioning Questionnaire - 25): a base set of 25 vision-targeted questions representing 11 vision-related constructs, plus an additional single-item general health rating question. It generates the vision-related sub-scales: global vision activities, difficulty with near vision activities, difficulty with distance vision activities, limitations in social functioning due to vision, role limitations due to vision, dependency on others due to vision, mental health symptoms due to vision, driving difficulties, limitations with peripheral and color vision, and ocular pain.

    Measured: once at enrollment

  3. Measure the independence and independence-related quality of life

    • 13-30 ARAMAV: independence scale comprising 9 daily life activities groups (personal care, meals intake and preparation, domestic care, finances, society life, practical life, outside travel. Each is evaluated regarding the level of realization, the help received, and the level of satisfaction. It gives 2 scores: an independence score where 100 represents an independent person and 0 a totally dependent person and a quality of life score where 100 represents the better quality of life and 0 is the worse quality of life.

    Measured: once at enrollment

  4. Measure the cost of visual loss in terms of economic impact

    ad-hoc questionnaire

    Measured: once at enrollment

  5. Assess the patient's needs in care and social-economic support

    ad-hoc questionnaire

    Measured: once at enrollment

  6. Explore the relation between health status and employment conditions, education, and economic situation

    ad-hoc questionnaire

    Measured: once at enrollment

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted27 Sep 2022
  2. Study start4 Aug 2022
  3. Primary completion2 Feb 2023
  4. Study completion2 Feb 2023

Resources

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
12 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT05555784
Sponsor's protocol ID
2022-A00552-41
Status last verified
Feb 2024
First submitted
2 Sep 2022
Last updated
6 Feb 2024
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Cui S, Jiang H, Peng J, Wang J, Zhang X. Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation. J Neuroophthalmol. 2019 Mar;39(1):56-59. doi: 10.1097/WNO.0000000000000644.

    PubMed 29554000

  • Kirkman MA, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P. Quality of life in patients with leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3112-5. doi: 10.1167/iovs.08-3166. Epub 2009 Feb 28.

    PubMed 19255150

  • Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol. 2005 Sep;140(3):517-23. doi: 10.1016/j.ajo.2005.03.017.

    PubMed 16083845

  • Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA. Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison. Front Neurol. 2021 May 24;12:662838. doi: 10.3389/fneur.2021.662838. eCollection 2021.

    PubMed 34108929

  • Yu-Wai-Man P, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162.

    PubMed 11897814

Questions about this trial

What is this clinical trial studying?

An observational study of Leber's Hereditary Optic Neuropathy (LHON), run by Argo Sante at 1 site in France.

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 5 inclusion and 6 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 6 Feb 2024. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in France. 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?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

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?

Describe the disease impact on quality of life through qualitative data of loss of independence of patients suffering from LHON and living in France (time frame: Once at enrollment). 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 NCT05555784, which also lists 5 linked publications.

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 6 Feb 2024.

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