Since muscle biopsy is a invasive and risky operation, we hope to find a new way to diagnose mitochondrial disorders.
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Metobolomic profiles and analysed date of urinary profile in urine.
Secondary outcome
-
Background summary
Mitochondrial disorders are a heterogenous group of patients. Many organs can
be affected by the disease because of lowered energy production. The
diagnostics of this disease can be very difficult.
Metabolomic research gives hope to a simplification of the diagnosis.
Study objective
Since muscle biopsy is a invasive and risky operation, we hope to find a new
way to diagnose mitochondrial disorders.
Study design
Collection of urine for analysis in our lab and partly shipping to South Africa
for analysis.
Study burden and risks
None.
ziekerstraat 114
6511lk nijmegen
Nederland
ziekerstraat 114
6511lk nijmegen
Nederland
Listed location countries
Age
Inclusion criteria
younger than 18 years, proven mitochondrial disorder, informed consent signed
Exclusion criteria
older than 18 years, no mitochondrial disorder proven, no consent
Design
Recruitment
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 |
|---|---|
| Other | bekend in ZuidAfrika |
| CCMO | NL19483.091.07 |