Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma

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

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.

Study Overview

• Status: Terminated
• Conditions: Neurofibromatosis Type 1
• Intervention / Treatment: Device: Magnetic resonance imaging; Drug: Gadolinium contrast

• Study Type: Interventional
• Enrollment (Actual): 29
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Missouri
    • Saint Louis, Missouri, United States, 63110
      • Washington University School of Medicine (St. Louis Children's Hospital)

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 7 years (CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: SCREENING
• Allocation: NA
• Interventional Model: SINGLE_GROUP
• Masking: NONE

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
EXPERIMENTAL: Arm 1: MRI of brain with 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	Device: Magnetic resonance imaging; -Standard of care; Other Names: MRI; Drug: Gadolinium contrast; -Standard of care

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Washington University School of Medicine
• Collaborators: St. Louis Children's Hospital
• Investigators: Principal Investigator: David Gutmann, M.D., Ph.D., Washington University School of Medicine

Publications and helpful links

Helpful Links

• Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine

Study record dates

Study Major Dates

• Study Start (ACTUAL): April 16, 2013
• Primary Completion (ACTUAL): February 7, 2019
• Study Completion (ACTUAL): February 7, 2019

Study Registration Dates

• First Submitted: October 20, 2015
• First Submitted That Met QC Criteria: October 20, 2015
• First Posted (ESTIMATE): October 22, 2015

Study Record Updates

• Last Update Posted (ACTUAL): September 3, 2019
• Last Update Submitted That Met QC Criteria: August 29, 2019
• Last Verified: August 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Neurologic Manifestations; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Neuromuscular Manifestations; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma; Muscle Hypotonia
• Other Study ID Numbers: 201303074

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No