NCT00598351 Natural History Study of Patients With Neurofibromatosis Type 2
| NCT ID | NCT00598351 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Institute of Neurological Disorders and Stroke (NINDS) |
| Condition | Neurofibromatosis |
| Study Type | OBSERVATIONAL |
| Enrollment | 269 participants |
| Start Date | 2008-03-21 |
| Primary Completion | — |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 269 participants in total. It began in 2008-03-21.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 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, 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).
Contact & Investigator
Prashant Chittiboina, M.D.
PRINCIPAL INVESTIGATOR
National Institute of Neurological Disorders and Stroke (NINDS)
Frequently Asked Questions
Who can join the NCT00598351 clinical trial?
This trial is open to participants of all sexes, aged 8 Years or older, up to 75 Years, studying Neurofibromatosis. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00598351 currently recruiting?
Yes, NCT00598351 is actively recruiting participants. Contact the research team at christi.hayes@nih.gov for enrollment information.
Where is the NCT00598351 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT00598351 clinical trial?
NCT00598351 is sponsored by National Institute of Neurological Disorders and Stroke (NINDS). The principal investigator is Prashant Chittiboina, M.D. at National Institute of Neurological Disorders and Stroke (NINDS). The trial plans to enroll 269 participants.