National survey of people carrying the mt.3243A>G mutation of mitochondrial DNA.

National survey of people carrying the mt.3243A>G mutation of mitochondrial DNA. - mt.3243A> G inventory

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON34556

Enrollment

100

Registered

2010-09-21

Start date

2010-10-01

Completion date

Unknown

Last updated

2024-05-06

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

Conditions

energiestofwisselingsziekte niet-vasculaire beroertes

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: patients carrying the mt.3243A>G mutation and relatives in the maternal line

Exclusion criteria

Exclusion criteria: Absence of mt.3243A> G mutation

Design outcomes

Primary

Measure	Time frame
The Newcastle Mitochondrial Disease Scales give a score which may be continued in time and gives a measure of the seriousness of the mitochondrial disorder	—

Secondary

Measure	Time frame
Identifying a minimally invasive alternative to demonstrate the presence of the mt.3243A> G mutation in patients and/or carriers.	—

Countries

Netherlands

Outcome results