A systematic metabolic approach to the evaluation of nutrition in Rett syndrome according to the cardiorespiratory phenotype in Dutch Rett girls.

A systematic metabolic approach to the evaluation of nutrition in Rett syndrome according to the cardiorespiratory phenotype in Dutch Rett girls. - Metabolic evaluation of nutrition in Rett syndrome.

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON34012

Enrollment

Registered

2009-03-11

Start date

2009-05-20

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

Rett syndrome

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Clinical diagnosis of Rett syndroom according to the diagnostic criteria (Hagberg et al, 2002) MECP2-mutation Complete neurophysiological work-up

Exclusion criteria

Exclusion criteria: Male gender.

Design outcomes

Primary

Measure	Time frame
To ascertain the nutritional status, a complete nutrition assessment and measurement of body composition will be carried out. To examine the consequences of an altered carbon dioxide metabolism, blood as well as urine samples will be collected concerning biochemical screening for metabolites from multiple pathways. Secondary, metabolites indicating possibly impaired mitochondrial function will also be investigated (full description is presented on page 21 and 22).	—

Measure

Time frame

To ascertain the nutritional status, a complete nutrition assessment and measurement of body composition will be carried out. To examine the consequences of an altered carbon dioxide metabolism, blood as well as urine samples will be collected concerning biochemical screening for metabolites from multiple pathways. Secondary, metabolites indicating possibly impaired mitochondrial function will also be investigated (full description is presented on page 21 and 22).

—

Secondary

Measure	Time frame
Not applicable.	—

Countries

Netherlands

Outcome results