A systematic metabolic approach to the evaluation of nutrition in Rett syndrome according to the cardiorespiratory phenotype in Dutch Rett girls.
Completed
- Conditions
- Rett syndrome10083624
- Registration Number
- NL-OMON34012
- Lead Sponsor
- Academisch Ziekenhuis Maastricht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 12
Inclusion Criteria
Clinical diagnosis of Rett syndroom according to the diagnostic criteria (Hagberg
et al, 2002)
MECP2-mutation
Complete neurophysiological work-up
Exclusion Criteria
Male gender.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>To ascertain the nutritional status, a complete nutrition assessment and<br /><br>measurement of body composition will be carried out. To examine the<br /><br>consequences of an altered carbon dioxide metabolism, blood as well as urine<br /><br>samples will be collected concerning biochemical screening for metabolites from<br /><br>multiple pathways. Secondary, metabolites indicating possibly impaired<br /><br>mitochondrial function will also be investigated (full description is presented<br /><br>on page 21 and 22).</p><br>
- Secondary Outcome Measures
Name Time Method <p>Not applicable.</p><br>