Leber's hereditary optic neuropathy H47
Conditions
Interventions
Group 1: Register study
Retrospective and prospective health data capture of LHON patients
Sponsors
Universitätsklinikum Tübingen
Eligibility
Sex/Gender
All
Age
12 Years to No maximum
Inclusion criteria
Inclusion criteria: • Patients diagnosed with LHON by clinical and/or genetic diagnosis (i.e. carriers of at least one pathogenic mutation known or suspected to cause LHON) • Willing to provide patient authorization/informed consent for the use of their pseudonymized data • Patients between 14 and 18 years of age can only participate if their legal guardians grant authorization/informed consent
Exclusion criteria
Exclusion criteria: There are no exclusion criteria.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| In this register study, objectives for data evaluation may be defined in an ongoing fashion based on current scientific knowledge and demand of the ophthalmological community. Initial objectives of this register study include: • To describe the incidence of LHON • To describe the demographic distribution of LHON • To identify association of mitochondrial mutations with LHON • To identify possible risk factors of LHON • To describe the long-term clinical course of LHON • To describe diagnostic and clinical findings associated with LHON • To describe the therapeutic approaches in LHON patients • To describe diagnostic pathways in LHON patients • To describe healthcare utilization of LHON patients • To collect data on the treatment satisfaction with the drugs used for LHON treatment | — |
Secondary
| Measure | Time frame |
|---|---|
| Additional future objectives may be documented and defined in an amended observational plan, if applicable. | — |
Countries
Germany
Contacts
Public ContactTobias Peters
Department für Augenheilkunde, Universitätsklinikum Tübingen
Outcome results
None listed