The aim of this study is to confirm previous findings and examine the functionality of the creatine transporter in RTT girls, at which mutation analysis of the SLC6A8 gene (as a possible cause of an altered functionality of the creatine transporter…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Blood as well as urine samples will be collected to confirm previous findings
(plasma and urine creatine concentrations) and perform mutation analysis
regarding the SLC6A8 gene. Secondary, a skin biopsy will be collected for
functionality investigations regarding creatine transporter.
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. Preliminary research showed elevated
plasma creatine concentrations and increased urinary creatine/creatinine ratios
in half of the RTT girls. Further investigations will be done in study. Blood
and urine samples as well as a skin biopsy will be collected.
Study objective
The aim of this study is to confirm previous findings and examine the
functionality of the creatine transporter in RTT girls, at which mutation
analysis of the SLC6A8 gene (as a possible cause of an altered functionality of
the creatine transporter) will be performed.
Primary objectives of the study are:
1. Can previous findings be confirmed?
2. Is the functionality of the creatine transporter altered in RTT girls?
3. Are mutations in the SLC6A8 gene present in RTT girls?
Study design
Observational study.
Study burden and risks
Blood and urine samples will be collected once, in addition to a regular blood
withdrawal. These analysis will require 6 ml extra blood. Secondary, a skin
biopsy will be collected under local anesthesia, using an Emla-plaster. The
risks are negligible and the burden of participation to the study is minimal.
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
Participant preliminary research (NL25356.068.08)
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 |
|---|---|
| CCMO | NL32481.068.10 |