Purpose:
Objective
With this prospective natural history study on neurofibromatosis type 2 (NF2) study, we hope
to understand the factors leading to tumor progression and neurological disease burden in
NF2.
Study Population
A total of 269 participants, ages 8-75, with a clinical or genetic diagnosis of NF2 will
participate in this study.
Design
Study participants will be evaluated with a thorough physical and neurologic examination upon
enrollment. This initial outpatient evaluation will include magnetic resonance imaging with
contrast of brain and spine and blood collection for research use. Participants with
measurable hearing will have audiology assessment performed during the initial visit.
Participants with untreated vestibular schwannomas will have vestibular assessment performed
during the initial visit. Genetic studies performed outside will be acceptable as
confirmation of NF2 in enrolled patients. If needed to confirm NF2 with genetic studies, or
for research purpose, whole genome/whole exome sequencing may be performed on blood obtained
from subjects enrolled in this study. All participants will be evaluated by a speech language
pathologist.
Subjects will be followed as outpatients for up to ten years, during which clinical, and
radiologic evaluation will be performed annually. Auditory testing will be performed annually
for participants with measurable hearing. Participants with initially untreated vestibular
schwannomas will be followed annually with vestibular testing. Speech and swallowing
reassessments will be repeated if worsening of speech or swallowing is reported. Blood will
be collected at each visit for blood biomarker testing
Outcome measures
We hope to understand the biologic basis for speech and swallowing dysfunction in patients
with NF2. We will study and report the strength of association of MRI findings, clinical
assessments cranial nerve deficits and speech/swallowing dysfunction. We hope to
identify imaging biomarkers of hearing loss in NF2. We will attempt to discover the mode of
peripheral neuropathy in patients with NF2. Lastly, we will attempt to discover previously
unknown serum biomarkers associated with high tumor burden in NF2.
...
Study summary:
Objective
With this prospective natural history study on neurofibromatosis type 2 (NF2) study, we hope
to understand the factors leading to tumor progression and neurological disease burden in
NF2.
Study Population
A total of 269 participants, ages 8-75, with a clinical or genetic diagnosis of NF2 will
participate in this study.
Design
Study participants will be evaluated with a thorough physical and neurologic examination upon
enrollment. This initial outpatient evaluation will include magnetic resonance imaging with
contrast of brain and spine and blood collection for research use. Participants with
measurable hearing will have audiology assessment performed during the initial visit.
Participants with untreated vestibular schwannomas will have vestibular assessment performed
during the initial visit. Genetic studies performed outside will be acceptable as
confirmation of NF2 in enrolled patients. If needed to confirm NF2 with genetic studies, or
for research purpose, whole genome/whole exome sequencing may be performed on blood obtained
from subjects enrolled in this study. All participants will be evaluated by a speech language
pathologist.
Subjects will be followed as outpatients for up to ten years, during which clinical, and
radiologic evaluation will be performed annually. Auditory testing will be performed annually
for participants with measurable hearing. Participants with initially untreated vestibular
schwannomas will be followed annually with vestibular testing. Speech and swallowing
reassessments will be repeated if worsening of speech or swallowing is reported. Blood will
be collected at each visit for blood biomarker testing
Outcome measures
We hope to understand the biologic basis for speech and swallowing dysfunction in patients
with NF2. We will study and report the strength of association of MRI findings, clinical
assessments cranial nerve deficits and speech/swallowing dysfunction. We hope to
identify imaging biomarkers of hearing loss in NF2. We will attempt to discover the mode of
peripheral neuropathy in patients with NF2. Lastly, we will attempt to discover previously
unknown serum biomarkers associated with high tumor burden in NF2.
Criteria:
- INCLUSION CRITERIA:
To be eligible for entry into the study, candidates must meet all the following criteria:
- Have the diagnosis of NF2 by established clinical criteria or genetic testing.
- Be between the age of 8 and 75.
- Have the capacity to undergo serial MRI scanning of the CNS without IV sedation.
- Able to give informed consent, or have a parent able to provide informed consent if a
child.
EXCLUSION CRITERIA:
Candidates will be excluded if they:
- Have a clinically unstable condition that precludes serial clinical and imaging
evaluation (i.e. Class 3 congestive heart failure, severe chronic renal insufficiency,
severe chronic obstructive pulmonary disease).
- Cannot have an MRI scan due to an allergy or relative contraindication to MRI contrast
agents.
- Have prior surgery or implant that involves metal clips or wires, which might be
expected to cause tissue damage or produce image artifacts such as pacemakers,
stimulators, pumps, aneurysm clips, metallic prostheses, and artificial heart valves.
- ABIs or cochlear implants are not approved by the NIH Radiology department for safe
use on NIH scanners..
- Have severe chronic renal insufficiency (glomerular filtration rate less than 30
mL/min/1.73 m2), hepatorenal syndrome or post-liver transplantation.
- Are pregnant at time of intake visit (women of childbearing age will be tested with a
urine pregnancy test).
Primary Contact:
Principal Investigator
Prashant Chittiboina, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)
Gretchen C Scott, R.N.
Phone: Not Listed
Email: nf2@nih.gov