Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma

Study Overview
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Brief Summary
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Currently, optic pathway gliomas (OPG) are detected based on abnormal findings made during annual ophthalmologic exams. However, because these exams are annual, it is possible for healthcare providers to miss the point at which a child's vision begins to decline (potentially indicating an OPG). If at-risk children are screened for hypotonia early in life, those children who are hypotonic may undergo magnetic resonance imaging (MRI) to evaluate for OPG before they are showing ophthalmologic symptoms. This would enable healthcare providers to discover vision loss earlier and treat symptomatic OPGs earlier, thereby allowing us a better chance of preventing further vision loss in children with OPGs.

Official Title
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Hypotonia as a Clinical Predictor of Optic Pathway Glioma in Children With Neurofibromatosis Type 1

Conditions
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Neurofibromatosis Type 1

Intervention / Treatment
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* Device: Magnetic resonance imaging
* Drug: Gadolinium contrast


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient must be seen at the St. Louis Children's Hospital NF Clinic Diagnosis of NF1 Between 1 and 7 years of age, inclusive Diagnosed with hypotonia Legally authorized representative/guardian must be able to understand and willing to sign an IRB-approved informed consent document Must have an MRI scan ordered by a treating physician Exclusion Criteria: Normal tone on clinical exam Known allergy to gadolinium or the sedative, propofol, used during MRI Poor kidney function defined as a known renal disease or elevated BUN and creatine Requiring intubation for anesthesia

Ages Eligible for Study
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Minimum Age: 1 Year
Maximum Age: 7 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Screening
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Arm 1: MRI of brain with gadolinium contrast<br>-Eligible children whose guardians have consented to their participation will undergo routine clinical brain MRI with gadolinium contrast. The MRI scan will last no more than 45 minutes | Device: Magnetic resonance imaging<br>* -Standard of care<br>* Other names: MRI;Drug: Gadolinium contrast<br>* -Standard of care<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Predictive accuracy of clinical diagnosis of hypotonia as an indicator of OPG in children with NF1 | A pediatric nurse practitioner (PNP) or a pediatric physician specializing in NF1, and physical therapist will screen the children for hypotonia. The MRI scan will show hypotonia if the children have thickening or enlargement of any portion of the optic nerve, optic chiasm, or optic tracts. The data analysis for this will be descriptive in nature. | At the time of MRI (1 day) | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Other features that may be indicatory of OPG in children with NF1 | MRI findings may include other brain tumors or T2 hyperintensities. The data analysis will be descriptive in nature. | At the time of MRI (1 day) | 
| Determine if a physical therapist (PT) can train another clinical professional to accurately diagnose hypotonia | -PTs use subjective muscle tone, a pull-to-sit test, and the presence or absence of head lag to determine hypotonia. | 1 day |