Rett SyndromeNCT01198015
Creatine Metabolism in Rett Syndrome
An observational study of Rett Syndrome, run by Maastricht University Medical Center at 1 site in Netherlands.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 to 20 years, women only
- Conditions the study is for
- Rett Syndrome
- How many people
- 13 participants
- Where
- 1 siteNetherlands
- Study dates
- Aug 2010to Jan 2011
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 20 years
- Women only
- No healthy volunteers
- Child, Adult
Study population: The study population (identical to the population in the preliminary research project) consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular, neurophysiological and metabolic work-up.
Who may be able to join
- 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).
Who cannot join
- Male gender
Trial locations and contacts
1 site in 1 country.
Netherlands1 site
Maastricht University Medical Center
Maastricht, Limburg, 6202 AZ
About this study
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.
- Conditions
- Rett Syndrome
- Keywords
- Rett syndrome, Nutritional status, Creatine metabolism
- Medical subject headings
- Rett Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Rett syndrome girls | The study population (identical to the population in the preliminary research project) consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular, neurophysiological and metabolic work-up. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: One hour
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Sep 2010 (estimated)
- Study startAug 2010
- Primary completionJan 2011
- Study completionJan 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rett SyndromeStudies of the same condition, open and under way.
- More trials run by Maastricht University Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Cross-sectional
- Enrolment
- 13 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Maastricht University Medical Center
- Sponsor type
- University, hospital or other
- Investigators
- Leopold MG Curfs, Professor, Study director, Maastricht University Medical CenterEric EJ Smeets, MD, Study director, Maastricht University Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01198015
- Sponsor's protocol ID
- NL32481.068.10
- Other IDs
- MEC-10-2-038
- Status last verified
- Feb 2011
- First submitted
- 2 Sep 2010
- Last updated
- 17 Feb 2011
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Feb 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism
- ClinicalTrials.gov ID
- NCT01198015
- Acronym / sponsor ID
- NL32481.068.10
- Conditions
- Rett Syndrome
- Keywords
- Rett syndrome, Nutritional status, Creatine metabolism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 13 participants (estimated)
- Lead sponsor
- Maastricht University Medical CenterUniversity, hospital or other
- Study start
- Aug 2010
- Primary completion
- Jan 2011 (actual)
- Study completion
- Jan 2011 (actual)
- First posted
- 9 Sep 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Rett syndrome girls | – | –The study population (identical to the population in the preliminary research project) consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular, neurophysiological and metabolic work-up. |
Who may qualify
- Ages
- 3 to 20 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- The study population (identical to the population in the preliminary research project) consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular, neurophysiological and metabolic work-up.
Key inclusion criteria (4 listed)
- 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).
Key exclusion criteria (1 listed)
- Male gender
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Confirm previous findings and examine the functionality of the creatine transporter in RTT girls
Time frame: One hour
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Feb 2011.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Leopold MG Curfs, Professor study director
Maastricht University Medical Center
Eric EJ Smeets, MD study director
Maastricht University Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rett Syndrome, run by Maastricht University Medical Center at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Feb 2011. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Confirm previous findings and examine the functionality of the creatine transporter in RTT girls (time frame: One hour). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Feb 2011.