Rett Syndrome Clinical Trial
Official title:
Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism
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 role
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.
The aim of this study is to confirm previous findings and examine the functionality of the
creatine transporter in RTT girls.
The investigators assume that previous findings will be confirmed, and are due to an altered
functionality of the creatine transporter.
Status | Completed |
Enrollment | 13 |
Est. completion date | January 2011 |
Est. primary completion date | January 2011 |
Accepts healthy volunteers | No |
Gender | Female |
Age group | 3 Years to 20 Years |
Eligibility |
Inclusion Criteria: - Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al, 2002)); - MECP2-mutation; - Complete neurophysiological work-up; - Participant preliminary research (research protocol NL25356.068.08). Exclusion Criteria: - Male gender |
Time Perspective: Cross-Sectional
Country | Name | City | State |
---|---|---|---|
Netherlands | Maastricht University Medical Center | Maastricht | Limburg |
Lead Sponsor | Collaborator |
---|---|
Maastricht University Medical Center |
Netherlands,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Confirm previous findings and examine the functionality of the creatine transporter in RTT girls | Blood as well as urine samples will be collected to confirm previous findings concerning plasma and urine creatine concentrations. Furthermore, blood samples will be used to perform mutation analysis of the SCL6A8 gene. Secondary, a skin biopsy will be collected for functional studies regarding the creatine transporter in RTT girls. By comparing intracellular and extracellular creatine concentrations, one can assess the functionality of the creatine transporter. | One hour | No |
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