A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2).

Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY

Objective With this prospective natural experiment trial 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. 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. ...

Eligibility
Participation Requirements
Sex: All
Minimum Age: 8
Maximum Age: 75
Healthy Volunteers: f
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⁃ 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.

Locations
United States
Maryland
National Institutes of Health Clinical Center
RECRUITING
Bethesda
Contact Information
Primary
Christina P Hayes, C.R.N.P.
christi.hayes@nih.gov
(301) 496-2921
Backup
Prashant Chittiboina, M.D.
prashant.chittiboina@nih.gov
(301) 496-2921
Time Frame
Start Date: 2008-03-21
Participants
Target number of participants: 269
Treatments
Patients
Patients must have the diagnosis of NF2 by established clinical criteria or genetic testing.
Sponsors
Leads: National Institute of Neurological Disorders and Stroke (NINDS)

This content was sourced from clinicaltrials.gov