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Trial record 2 of 9 for:    Recruiting Studies | Rett Syndrome

The Findings of MR Imaging in Rett Syndrome

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ClinicalTrials.gov Identifier: NCT02903056
Recruitment Status : Recruiting
First Posted : September 16, 2016
Last Update Posted : September 16, 2016
Sponsor:
Information provided by (Responsible Party):

Study Description
Brief 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 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.


Condition or disease Intervention/treatment
Rett Syndrome Other: Rett Syndrome

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

Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Case Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 1 Year
Official Title: The Findings of Resting-state Functional Magnetic Resonance Imaging , Susceptibility Weighted Imaging and Diffusion Spectrum Imaging in Rett Syndrome
Study Start Date : March 2016
Estimated Primary Completion Date : September 2017
Estimated Study Completion Date : September 2017

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U.S. FDA Resources

Groups and Cohorts

Group/Cohort Intervention/treatment
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.
Other: Rett Syndrome
Diagnosis of Rett Syndrome
Control-normal
Healthy people
Other: Rett Syndrome
Diagnosis of Rett Syndrome


Outcome Measures

Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. Peabody developmental motor scales (PDMS-2), [ Time Frame: within the first 90 days after scanning ]
    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.


Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years to 30 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
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.
Criteria

Inclusion Criteria:

  • Diagnosis: Rett Syndrome

Exclusion Criteria:

  1. Psychiatric diagnoses
  2. History of neurological impairment
  3. Neuropsychiatric conditions
  4. Clinical evidence of a genetic disorder
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02903056


Contacts
Contact: Wang Tso Lee, PhD 886223123456 ext 71618 leeped@hotmail.com

Locations
Taiwan
Department of Pediatrics, National Taiwan University Hospital Recruiting
Taipei, Taiwan
Contact: Wang Tso Lee    886-2-23123456 ext 71618      
Sponsors and Collaborators
National Taiwan University Hospital
Investigators
Principal Investigator: Wang Tso Lee, PhD NTUH
More Information

Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT02903056     History of Changes
Other Study ID Numbers: 201510011RINC
First Posted: September 16, 2016    Key Record Dates
Last Update Posted: September 16, 2016
Last Verified: September 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by National Taiwan University Hospital:
functional Magnetic Resonance Imaging
Diffusion Spectrum Imaging
Susceptibility weighted imaging
Magnetic Resonance Imaging

Additional relevant MeSH terms:
Syndrome
Rett Syndrome
Disease
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System