The Findings of MR Imaging in Rett Syndrome

NCT02903056 | Unknown

• 1 other identifier: 201510011RINC
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Rett Syndrome

Keywords

functional Magnetic Resonance Imaging; Diffusion Spectrum Imaging; Susceptibility weighted imaging; Magnetic Resonance Imaging

Outcome Measures

Primary Outcomes (1)

• 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.

  40 minutes

Secondary Outcomes (1)

• Peabody developmental motor scales (PDMS-2),

  within the first 90 days after scanning

Study Arms (2)

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

Control-normal

Healthy people

Other: Rett Syndrome

Interventions

Rett Syndrome OTHER

Diagnosis of Rett Syndrome

Control-normal; Rett Syndrome

Eligibility Criteria

• Age: 3 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• Diagnosis: Rett Syndrome

You may not qualify if:

• Psychiatric diagnoses
• History of neurological impairment
• Neuropsychiatric conditions
• Clinical evidence of a genetic disorder

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

Department of Pediatrics, National Taiwan University Hospital

Taipei, Taiwan

RECRUITING

MeSH Terms

Conditions

Rett Syndrome

Interventions

Methyl-CpG-Binding Protein 2

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Intervention Hierarchy (Ancestors)

DNA-Binding Proteins; Proteins; Amino Acids, Peptides, and Proteins; Chromosomal Proteins, Non-Histone; Nuclear Proteins; Nucleoproteins

Study Officials

• Wang Tso Lee, PhD

  NTUH

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Wang Tso Lee, PhD

CONTACT

886223123456; leeped@hotmail.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 3, 2016
• First Posted: September 16, 2016
• Study Start: March 1, 2016
• Primary Completion: September 1, 2017
• Study Completion: September 1, 2017
• Last Updated: September 16, 2016

Record last verified: 2016-09

Data Sharing

• IPD Sharing: Will not share

Locations

TW (1)