Neurofibromatosis Type 1
Conditions
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.
Interventions
DEVICEMagnetic resonance imaging
-Standard of care
-Standard of care
Sponsors
St. Louis Children's Hospital
Washington University School of Medicine
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
1 Years to 7 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
United States
Outcome results
None listed