The aims of this pilot study are to describe the nutritional status of a well-defined group of Dutch RTT girls with complete clinical, molecular and neurophysiological work-up (full description is presented in the section *study population*) and to…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
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 outcome
Not applicable.
Background summary
Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite
their good appetite, many females with RTT meet the criteria for moderate to
severe malnutrition. The pathological mechanism is barely understood. Although
feeding difficulties may play a part in this, other constitutional factors as
altered metabolic processes are suspected. Irregular breathing is a common
clinical feature, reflecting the immaturity of the brainstem in RTT. The
primary pathophysiology is a defective control mechanism of carbon dioxide
exhalation that leads to chronic respiratory alkalosis or acidosis. We assume
that chronic respiratory acidosis or alkalosis causes derangement of the
metabolic equilibrium in RTT females with important nutritional consequences.
Study objective
The aims of this pilot study are to describe the nutritional status of a
well-defined group of Dutch RTT girls with complete clinical, molecular and
neurophysiological work-up (full description is presented in the section *study
population*) and to examine the consequences of a chronic respiratory acidosis
or alkalosis on metabolic processes.
Primary objectives of the study are:
1. What is the nutritional status of the RTT girls?
2. Can metabolic alterations caused by chronic respiratory acidosis or
alkalosis be detected?
Understanding the nutritional and cardiorespiratory requirements of these
patients is important in order for them to receive appropriate and effective
treatment. This treatment is of interest for general health and the quality of
daily life of the whole family.
Study design
Observational pilot study.
Study burden and risks
Blood and urine samples will be collected once, in addition to a regular blood
withdrawal. These analysis will require 13 ml extra blood. Blood withdrawal
will be done by dr. E.E.J. Smeets. A person who is familiar with the person
with RTT will attend the blood withdrawal. This study is carried out in girls
with RTT, who are incapacitated persons. The study is group related; it is only
possible to extent the knowledge of RTT using this group of persons. The risks
include taking a blood and urine sample once, which are negligible and the
burden of participation to the study is minimal. Regarding the parents time
investment concerning filling in a three-day nutritional diary and the
interview will be about 45 minutes.
Postbus 5800
6202 AZ Maastricht
Nederland
Postbus 5800
6202 AZ Maastricht
Nederland
Listed location countries
Age
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.
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 | 00786071 |
CCMO | NL25356.068.08 |