Assessment of persons who are carrier of a LHON (m.03460G>A, m.11778G>A or m.14484T>C) mutation in the mitochondrial DNA.

Assessment of persons who are carrier of a LHON (m.03460G>A, m.11778G>A or m.14484T>C) mutation in the mitochondrial DNA. - Inventarisation of persons who are carrier of a LHON mutation.

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON40998

Enrollment

Registered

2015-04-23

Start date

2015-12-07

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

leber's disease leber's hereditary optic neuropathie

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Patients with a proven LHON mutation in the mitochondrial DNA. All family members in the maternal line of the patient with a proven LHON mutation in the mitochondrial DNA.

Exclusion criteria

Exclusion criteria: No LHON mutation

Design outcomes

Primary

Measure	Time frame
The Newcastle Mitochondrial Disease Scale measures disease and disease*s progression over time.	—

Secondary

Measure	Time frame
predictors for diminished vision	—

Countries

Netherlands

Outcome results