I) To apply MRI techniques to identify anatomical and functional POLG related cerebral biomarkers. II) Investigate differences in said biomarkers between subjects and healthy controls.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Biomarkers in non-symptomatic POLG subjects, including anatomical and/or
functional differences.
Secondary outcome
NVT
Background summary
In this study, carriers of POLG mutation(s), displaying an asymptomatic
phenotype, will be examined to determine possible anatomical and functional
(MRI) deviations. Our goal is to examine both structural MRI differences
between a mildly impaired and a healthy system, and the functional changes in a
mildly impaired compared to healthy system.
Study objective
I) To apply MRI techniques to identify anatomical and functional POLG related
cerebral biomarkers.
II) Investigate differences in said biomarkers between subjects and healthy
controls.
Study design
Observational study
Study burden and risks
Including the informed consent procedure, the burden to participants is limited
to approximately four contact hour on one day. All measurements are
non-invasive. Participants with contraindications for MRI will be excluded.
Therefore the risks associated with participating in this study are negligible.
Paul-Henri Spaaklaan 1
Maastricht 6229 EN
NL
Paul-Henri Spaaklaan 1
Maastricht 6229 EN
NL
Listed location countries
Age
Inclusion criteria
-Carrier of a POLG mutation
-asymptomatic phenotype
Exclusion criteria
-contra-indications for MRI
-severe phenotype
Design
Recruitment
Medical products/devices used
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL56881.068.16 |