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Functional Imaging and Reading Deficit in Children With NF1

Primary Purpose

Neurofibromatosis Type 1

Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Neuropsychological assessments
morphological and functional MRI (fMRI)
genetic analysis
Sponsored by
University Hospital, Toulouse
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Neurofibromatosis Type 1 focused on measuring NF1, Children, Reading disability, Morphological and functional MRI, Genetic analysis

Eligibility Criteria

8 Years - 12 Years (Child)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

  • Age included between 8 and 12 years

  • Child presenting a type 1 neurofibromatosis according to 2 criteria in the following criteria list :

    • At least 6 café au lait spots
    • 2 or more neurofibromas or 1 plexiform neurofibroma
    • axillary or inguinal freckling
    • 1 optic nerf glioma
    • 2 or more Lisch nodules
    • 1 osseous lesion as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis
    • 1 A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria
  • Membership in a national insurance
  • Consent of the child and the parents

Exclusion Criteria:

  • Mental retardation (QI T < 70)
  • Treated or untreated epilepsy
  • Visual deficit (visual Acuteness < 4/10
  • Presence of a symptomatic optic glioma
  • Presence of a brain tumor.

Sites / Locations

  • CHU Toulouse

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Other

Arm Label

Children with reading disability

Children without reading disability

Arm Description

Children with NF1, with reading disability if their performances on reading assessment (Alouette Test) present a delay of at least 18 months, will have Neuropsychological assessments, morphological and functional MRI (fMRI) and genetic analysis

Children with NF1, without reading disability if their performances on reading assessment (Alouette Test) present a less than 18-month delay, will have Neuropsychological assessments, morphological and functional MRI (fMRI) and genetic analysis.

Outcomes

Primary Outcome Measures

Percentage of children performing in full the protocol functional MRI
Study the acceptability and feasibility of a functional MRI protocol in children with NF1 with or without reading disabilities.

Secondary Outcome Measures

blood flow in milliliters per minute
Comparison of brain activations involved in phonological and visuo-spatial processing in 2 groups in children with NF1. 1 group with reading disability and 1 group without reading disability Search for a link between the presence of a large deletion of the gene and learning disorders.

Full Information

First Posted
March 27, 2015
Last Updated
August 18, 2015
Sponsor
University Hospital, Toulouse
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1. Study Identification

Unique Protocol Identification Number
NCT02422732
Brief Title
Functional Imaging and Reading Deficit in Children With NF1
Official Title
Functional Magnetic Resonance Imaging and Reading Deficit in Children With NF1 Children
Study Type
Interventional

2. Study Status

Record Verification Date
August 2015
Overall Recruitment Status
Completed
Study Start Date
March 2009 (undefined)
Primary Completion Date
April 2015 (Actual)
Study Completion Date
April 2015 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Toulouse

4. Oversight

Data Monitoring Committee
No

5. Study Description

Brief Summary
A monocenter pilot study on the acceptability and feasibility of a functional MRI protocol in children with NF1 with or without reading disabilities.
Detailed Description
The principal aim of the study is to highlight the activation of brain area involved phonological and visuo-spatial processing in children with NF1 with or without reading disabilities.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Neurofibromatosis Type 1
Keywords
NF1, Children, Reading disability, Morphological and functional MRI, Genetic analysis

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
25 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Children with reading disability
Arm Type
Other
Arm Description
Children with NF1, with reading disability if their performances on reading assessment (Alouette Test) present a delay of at least 18 months, will have Neuropsychological assessments, morphological and functional MRI (fMRI) and genetic analysis
Arm Title
Children without reading disability
Arm Type
Other
Arm Description
Children with NF1, without reading disability if their performances on reading assessment (Alouette Test) present a less than 18-month delay, will have Neuropsychological assessments, morphological and functional MRI (fMRI) and genetic analysis.
Intervention Type
Other
Intervention Name(s)
Neuropsychological assessments
Intervention Description
IQ (WISC-IV) Reading tests (reading accuracy, reading speed, reading comprehension and strategy): Alouette, Lobrot, Odedys tests. Visuo-spatial skill (JLO, Thurston, CORSI tests) Attention (CPT 2, CBCL) Receptive oral language (EVIP)
Intervention Type
Radiation
Intervention Name(s)
morphological and functional MRI (fMRI)
Intervention Description
The fMRI will consider on the acquisition of a 3D anatomical sequence in T1 high resolution in axial slices of 1mm with an acquisition time of 10 min and a T2 sequence and a "Flair" to allow UBO location.
Intervention Type
Genetic
Intervention Name(s)
genetic analysis
Intervention Description
Blood collection in 3 tubes (2 PAXgen® and 1 EDTA) and analysis to study the NF1 gene deletion.
Primary Outcome Measure Information:
Title
Percentage of children performing in full the protocol functional MRI
Description
Study the acceptability and feasibility of a functional MRI protocol in children with NF1 with or without reading disabilities.
Time Frame
day 1
Secondary Outcome Measure Information:
Title
blood flow in milliliters per minute
Description
Comparison of brain activations involved in phonological and visuo-spatial processing in 2 groups in children with NF1. 1 group with reading disability and 1 group without reading disability Search for a link between the presence of a large deletion of the gene and learning disorders.
Time Frame
day 1

10. Eligibility

Sex
All
Minimum Age & Unit of Time
8 Years
Maximum Age & Unit of Time
12 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: Age included between 8 and 12 years Child presenting a type 1 neurofibromatosis according to 2 criteria in the following criteria list : At least 6 café au lait spots 2 or more neurofibromas or 1 plexiform neurofibroma axillary or inguinal freckling 1 optic nerf glioma 2 or more Lisch nodules 1 osseous lesion as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis 1 A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria Membership in a national insurance Consent of the child and the parents Exclusion Criteria: Mental retardation (QI T < 70) Treated or untreated epilepsy Visual deficit (visual Acuteness < 4/10 Presence of a symptomatic optic glioma Presence of a brain tumor.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Yves Chaix, MD PhD
Organizational Affiliation
CHU Toulouse
Official's Role
Principal Investigator
Facility Information:
Facility Name
CHU Toulouse
City
Toulouse
Country
France

12. IPD Sharing Statement

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Functional Imaging and Reading Deficit in Children With NF1

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