Rett SyndromeNCT02903056
The Findings of MR Imaging in Rett Syndrome
An observational study of Rett Syndrome, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
Introduction: Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age… Read more about this study
- Who is it for?
- Ages 3 to 30 years
- Conditions the study is for
- Rett Syndrome
- What is being tested?
- Rett Syndrome
- How many people
- 100 participants
- Where
- 1 siteTaiwan
- Study dates
- Mar 2016to Sep 2017
- How long will I take part?
- 1 Year
- 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 30 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age of two. At the same time, stereotyped hand movement typically appears.
Who may be able to join
- Diagnosis: Rett Syndrome
Who cannot join
- Psychiatric diagnoses
- History of neurological impairment
- Neuropsychiatric conditions
- Clinical evidence of a genetic disorder
Trial locations and contacts
1 site in 1 country.
Taiwan1 site, 1 recruiting
- Recruiting
Department of Pediatrics, National Taiwan University Hospital
Taipei
Wang Tso Lee, 886-2-23123456 ext. 71618
About this study
Official title: The Findings of Resting-state Functional Magnetic Resonance Imaging , Susceptibility Weighted Imaging and Diffusion Spectrum Imaging in Rett Syndrome
Introduction: Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age of two. At the same time, stereotyped hand movement typically appears. However, some of them will improve the abilities in speech and eye gaze, and the repetitive hand movements may decrease after few years.
Background / hypothesis：Preliminary evidence suggests that there are many differences in brain structure between Rett syndrome and normal people including cerebral volume reduction in both white matter and gray matter, cerebral blood flow in the frontal area, and density of receptors in basal ganglia. In MR imaging studies, decreases in parietal lobe gray matter were found, and several reductions in cortical white matter were observed by DTI. However, the visual related pathway- posterior corona radiata in Rett syndrome girls was normal to be increased in FA values. The similar result was also discovered in the superior longitudinal fasciculus, associated with speech, which equal to control subjects and patients with preserved speech (phrases and sentences).Despite this, few studies mentioned comparison with brain microstructure in the different stage, especially in adult patients. Therefore, our prospective study will be planned to figure out the specific changing pattern of brain structure in different stages of Rett syndrome. And the trajectory of microstructure in brain is going to be in accordance with the functional improvement.
The investigators suppose that (1)there are different microstructural changes for patients with/without preserved mobility, verbal ability and communication skill; (2)there are a few specific brain microstructures changes in visual pathway; (3) there is a specific changing pattern of brain microstructure in different aging of Rett syndrome. To acquire more specific results, the investigators aim to apply conventional MRI, diffusion-spectrum imaging, and some clinical assessment tools like Rett syndrome -related questionnaire, SSI, PDMS-2 and six-minute walk test to investigate their correlation.
Read the detailed description
In this study we proposed to use conventional MR imaging, diffusion spectrum imaging(DSI), and susceptibility weighted imaging(SWI), to acquire the information of brain structure in neural tissue and the volume of blood vessels. Conventional MR imaging with 3T MR unit will consist of sagittal T1-weighted, axial T2 fast spin-echo, and thickness of transverse sections in 2.5 mm are obtained parallel to the anterior and posterior commissure line. Diffusion spectrum imaging(DSI), a more specific method to detects the fiber crossing of white matter, quantified by GFA value to investigate the tract-specific abnormalities with the growth trajectories and their correlations with clinical features in patients with RTT.DSI scans were acquired using a Siemens Tim Trio 3T scanner at NTUH. Diffusion spectrum imaging data were obtained in 32 channel head coil with following parameters: TE = 2.98 ms, TR = 2000 ms, slice per slab=208, slice thickness = 1.0mm, FoV read = 256mm, voxel size=2.5x2.5x2.5mm. Susceptibility weighted image(SWI), facilitated sensitivity to deposited hemosiderin, has improved the recognition of cerebral micro bleeds (CMB). Therefore, we plan to use the advancing techniques to gain the information about the multiple cortico-subcortical blood vessels from our patient.
Study subjects will be recruited from OPD in NTU hospital, age range 2 to 30 years, 45 diagnosed rett patients and 45 controls. All of the scanning will complete in NTU hospital. Before entering the scanning room, parents of patients will finish a questionnaire about the physical development in Rett syndrome, including gross motor, fine motor skills and speech ability. After then, DSI data are acquired at 3T MR unit and we will analysis the white matter data by DSI studio (http://dsi-studio.labsolver.org ) and perform the whole brain tracts in detail by TBAA which were reconstructed on the NTU-DSI-122 template. We will process and analyze the gray matter by using FreeSurfer (http://freesurfer.net) and the volume of cerebral micro bleeds by SWI data to find out the difference between Rett patients and control group. In order to obtain the results with reliability and validity, Peabody developmental motor scales (PDMS-2), a motor development program will be applied to assess the gross motor and fine motor skills objectively. PDMS-2 consists of 6 subjects: reflexes, stationary, locomotion, object manipulation, grasping, and visual-motor integration and can be used in clinical assessment and training. Finally, the brain structure data will be compared with the functional changes in Rett syndrome patients.
- Conditions
- Rett Syndrome
- Being tested
- Rett Syndrome
- Keywords
- functional Magnetic Resonance Imaging, Diffusion Spectrum Imaging, Susceptibility weighted imaging, Magnetic Resonance Imaging
- Medical subject headings
- Rett Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Rett SyndromeOther
Diagnosis of Rett Syndrome
| Study group | Role | What they receive |
|---|---|---|
| Rett Syndrome | Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age of two. At the same time, stereotyped hand movement typically appears. Receives: Other: Rett Syndrome | |
| Control-normal | Healthy people Receives: Other: Rett Syndrome |
What is being measured
The primary outcome is the main question the study is designed to answer.
DSI data
Diffusion spectrum imaging(DSI), a more specific method to detects the fiber crossing of white matter, quantified by GFA value to investigate the tract-specific abnormalities with the growth trajectories and their correlations with clinical features in patients with RTT.DSI scans were acquired using a Siemens Tim Trio 3T scanner at NTUH. Diffusion spectrum imaging data were obtained in 32 channel head coil with following parameters: TE = 2.98 ms, TR = 2000 ms, slice per slab=208, slice thickness = 1.0mm, FoV read = 256mm, voxel size=2.5x2.5x2.5mm.
Measured: 40 minutes
Secondary outcomes (1)
Peabody developmental motor scales (PDMS-2),
A motor development program will be applied to assess the gross motor and fine motor skills objectively. PDMS-2 consists of 6 subjects: reflexes, stationary, locomotion, object manipulation, grasping, and visual-motor integration and can be used in clinical assessment and training.
Measured: within the first 90 days after scanning
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Sep 2016 (estimated)
- Study startMar 2016
- Primary completionSep 2017 (estimated)
- Study completionSep 2017 (estimated)
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 National Taiwan University HospitalThe 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
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (estimated)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Wang Tso Lee, PhD, Principal investigator, NTUH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02903056
- Sponsor's protocol ID
- 201510011RINC
- Status last verified
- Sep 2016
- First submitted
- 3 May 2016
- Last updated
- 16 Sep 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Sep 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Findings of Resting-state Functional Magnetic Resonance Imaging , Susceptibility Weighted Imaging and Diffusion Spectrum Imaging in Rett Syndrome
- ClinicalTrials.gov ID
- NCT02903056
- Acronym / sponsor ID
- 201510011RINC
- Conditions
- Rett Syndrome
- Keywords
- functional Magnetic Resonance Imaging, Diffusion Spectrum Imaging, Susceptibility weighted imaging, Magnetic Resonance Imaging
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- Mar 2016
- Primary completion
- Sep 2017 (estimated)
- Study completion
- Sep 2017 (estimated)
- First posted
- 16 Sep 2016 (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.
Introduction: Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age of two. At the same time, stereotyped hand movement typically appears. However, some of them will improve the abilities in speech and eye gaze, and the repetitive hand movements may decrease after few years.
Background / hypothesis：Preliminary evidence suggests that there are many differences in brain structure between Rett syndrome and normal people including cerebral volume reduction in both white matter and gray matter, cerebral blood flow in the frontal area, and density of receptors in basal ganglia. In MR imaging studies, decreases in parietal lobe gray matter were found, and several reductions in cortical white matter were observed by DTI. However, the visual related pathway- posterior corona radiata in Rett syndrome girls was normal to be increased in FA values. The similar result was also discovered in the superior longitudinal fasciculus, associated with speech, which equal to control subjects and patients with preserved speech (phrases and sentences).Despite this, few studies mentioned comparison with brain microstructure in the different stage, especially in adult patients. Therefore, our prospective study will be planned to figure out the specific changing pattern of brain structure in different stages of Rett syndrome. And the trajectory of microstructure in brain is going to be in accordance with the functional improvement.
The investigators suppose that (1)there are different microstructural changes for patients with/without preserved mobility, verbal ability and communication skill; (2)there are a few specific brain microstructures changes in visual pathway; (3) there is a specific changing pattern of brain microstructure in different aging of Rett syndrome. To acquire more specific results, the investigators aim to apply conventional MRI, diffusion-spectrum imaging, and some clinical assessment tools like Rett syndrome -related questionnaire, SSI, PDMS-2 and six-minute walk test to investigate their correlation.
Detailed description
In this study we proposed to use conventional MR imaging, diffusion spectrum imaging(DSI), and susceptibility weighted imaging(SWI), to acquire the information of brain structure in neural tissue and the volume of blood vessels. Conventional MR imaging with 3T MR unit will consist of sagittal T1-weighted, axial T2 fast spin-echo, and thickness of transverse sections in 2.5 mm are obtained parallel to the anterior and posterior commissure line. Diffusion spectrum imaging(DSI), a more specific method to detects the fiber crossing of white matter, quantified by GFA value to investigate the tract-specific abnormalities with the growth trajectories and their correlations with clinical features in patients with RTT.DSI scans were acquired using a Siemens Tim Trio 3T scanner at NTUH. Diffusion spectrum imaging data were obtained in 32 channel head coil with following parameters: TE = 2.98 ms, TR = 2000 ms, slice per slab=208, slice thickness = 1.0mm, FoV read = 256mm, voxel size=2.5x2.5x2.5mm. Susceptibility weighted image(SWI), facilitated sensitivity to deposited hemosiderin, has improved the recognition of cerebral micro bleeds (CMB). Therefore, we plan to use the advancing techniques to gain the information about the multiple cortico-subcortical blood vessels from our patient.
Study subjects will be recruited from OPD in NTU hospital, age range 2 to 30 years, 45 diagnosed rett patients and 45 controls. All of the scanning will complete in NTU hospital. Before entering the scanning room, parents of patients will finish a questionnaire about the physical development in Rett syndrome, including gross motor, fine motor skills and speech ability. After then, DSI data are acquired at 3T MR unit and we will analysis the white matter data by DSI studio (http://dsi-studio.labsolver.org ) and perform the whole brain tracts in detail by TBAA which were reconstructed on the NTU-DSI-122 template. We will process and analyze the gray matter by using FreeSurfer (http://freesurfer.net) and the volume of cerebral micro bleeds by SWI data to find out the difference between Rett patients and control group. In order to obtain the results with reliability and validity, Peabody developmental motor scales (PDMS-2), a motor development program will be applied to assess the gross motor and fine motor skills objectively. PDMS-2 consists of 6 subjects: reflexes, stationary, locomotion, object manipulation, grasping, and visual-motor integration and can be used in clinical assessment and training. Finally, the brain structure data will be compared with the functional changes in Rett syndrome patients.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Year
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Rett Syndrome | – | Other: Rett SyndromeRett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age of two. At the same time, stereotyped hand movement typically appears. |
| Control-normal | – | Other: Rett SyndromeHealthy people |
Who may qualify
- Ages
- 3 to 30 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age of two. At the same time, stereotyped hand movement typically appears.
Key inclusion criteria (1 listed)
- Diagnosis: Rett Syndrome
Key exclusion criteria (4 listed)
- Psychiatric diagnoses
- History of neurological impairment
- Neuropsychiatric conditions
- Clinical evidence of a genetic disorder
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Rett SyndromeDiagnosis of Rett Syndrome | Other | Control-normal, Rett Syndrome |
Primary outcome
DSI data
Time frame: 40 minutes
Diffusion spectrum imaging(DSI), a more specific method to detects the fiber crossing of white matter, quantified by GFA value to investigate the tract-specific abnormalities with the growth trajectories and their correlations with clinical features in patients with RTT.DSI scans were acquired using a Siemens Tim Trio 3T scanner at NTUH. Diffusion spectrum imaging data were obtained in 32 channel head coil with following parameters: TE = 2.98 ms, TR = 2000 ms, slice per slab=208, slice thickness = 1.0mm, FoV read = 256mm, voxel size=2.5x2.5x2.5mm.
1 secondary outcome
Peabody developmental motor scales (PDMS-2),
Time frame: within the first 90 days after scanning
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Sep 2016.
- Individual participant dataSharing planned: No
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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.
Wang Tso Lee, PhD principal investigator
NTUH
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 National Taiwan University Hospital at 1 site in Taiwan.
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 1 inclusion and 4 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: status not confirmed, as of the sponsor's last update on 16 Sep 2016. 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 Taiwan. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Wang Tso Lee, PhD (886223123456 ext. 71618, leeped@hotmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
DSI data (time frame: 40 minutes). 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 16 Sep 2016.