Leber's Hereditary Optic Neuropathy (LHON)
Conditions
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.
Interventions
None listed
Sponsors
Santhera Pharmaceuticals
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
Healthy volunteers
No
Inclusion criteria
1. age ≥ 12 years 2. the onset of symptoms is dated after 1999 and is well documented (at least month of onset of symptoms is known for each eye) 3. at least two VA assessments are available within 5 years of onset of symptoms and prior to idebenone use 4. have a genetic diagnosis for LHON for one of the following mitochondrial DNA (mtDNA) mutations: G11778A, G3460A, T14484C
Exclusion criteria
1. any participation in an interventional clinical trial after the onset of symptoms 2. 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 | 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. |
Countries
Belgium, France, Germany, Italy, Netherlands, Norway, United Kingdom
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| LHON Patients Case Record Cohort Historical case record data from all LHON patients fulfilling the prospectively-defined inclusion criteria:
1. Age ≥ 12 years.
2. Onset of symptoms was dated after 1999 and was well documented (at least month of onset of symptoms is known for each eye).
3. At least two VA assessments were available within 5 years of onset of symptoms and prior to idebenone use.
4. Have a genetic diagnosis for LHON for one of the following mtDNA mutations: G11778A, G3460A, or T14484C.
Actual: 48 (with VA assessment made ≤1 year after the onset of symptoms) out of 219 patients from whom data were collected and entered into the database. | 219 |
| LHON Patients Case Record Cohort Historical case record data from all LHON patients fulfilling the prospectively-defined inclusion criteria:
1. Age ≥ 12 years.
2. Onset of symptoms was dated after 1999 and was well documented (at least month of onset of symptoms is known for each eye).
3. At least two VA assessments were available within 5 years of onset of symptoms and prior to idebenone use.
4. Have a genetic diagnosis for LHON for one of the following mtDNA mutations: G11778A, G3460A, or T14484C.
Actual: 48 (with VA assessment made ≤1 year after the onset of symptoms) out of 219 patients from whom data were collected and entered into the database. | 438 |
| Total | 657 |
Baseline characteristics
| Characteristic | LHON Patients Case Record Cohort |
|---|---|
| Age, Categorical <=18 years | 49 Participants |
| Age, Categorical >=65 years | 1 Participants |
| Age, Categorical Between 18 and 65 years | 169 Participants |
| Age, Continuous | 26.0 years |
| Region of Enrollment Belgium | 30 participants |
| Region of Enrollment France | 29 participants |
| Region of Enrollment Germany | 56 participants |
| Region of Enrollment Italy | 20 participants |
| Region of Enrollment Netherlands | 24 participants |
| Region of Enrollment Poland | 40 participants |
| Region of Enrollment United Kingdom | 20 participants |
| Sex: Female, Male Female | 44 Participants |
| Sex: Female, Male Male | 175 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 0 |
| other Total, other adverse events | 0 / 0 |
| serious Total, serious adverse events | 0 / 0 |
Outcome results
Primary
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.
Time frame: 12 months
Population: Data from a total of 219 LHON patients and 438 eyes were obtained from this study, out of which 96 eyes had a VA assessment made ≤1 year after the onset of symptoms (primary outcome measure).
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| LHON Patients Case Record Cohort | 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 | 15 ETDRS letters |