Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma

Not Applicable

Terminated

• Conditions: Neurofibromatosis Type 1
• Interventions: Device: Magnetic resonance imaging; Drug: Gadolinium contrast

• Registration Number: NCT02584413
• Lead Sponsor: Washington University School of Medicine

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2013-04-16
• Study First Submitted: 2015-10-20
• Study First Submitted QC: 2015-10-20
• Study First Posted: 2015-10-22
• Primary Completion: 2019-02-07
• Study Completion: 2019-02-07
• Status Verified: 2019-08
• Last Update Submitted: 2019-08-29
• Last Update Posted: 2019-09-03

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 29

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

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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

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Arm 1: MRI of brain with gadolinium contrast	Gadolinium contrast	-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
Arm 1: MRI of brain with gadolinium contrast	Magnetic resonance imaging	-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

Primary Outcome Measures

Name	Time	Method
Predictive accuracy of clinical diagnosis of hypotonia as an indicator of OPG in children with NF1	At the time of MRI (1 day)	* 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.

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Washington University School of Medicine (St. Louis Children's Hospital); 🇺🇸 Saint Louis, Missouri, United States