NeurofibromatosisNCT00598351
Natural History Study of Patients With Neurofibromatosis Type 2
An observational study of Neurofibromatosis, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 8 to 75 years
- Conditions the study is for
- Neurofibromatosis
- How many people
- 269 participants
- Where
- 1 siteUnited States
- Study dates
- 21 Mar 2008to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 to 75 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: subjects with a diagnosis of NF2 by established clinical criteria or genetic testing
Who may be able to join
- 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.
Who cannot join
- 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).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2).
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.
Read more
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.
...
Read the detailed description
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.
- Conditions
- Neurofibromatosis
- Keywords
- Meningioma, Ependymoma, Schwannoma, Spinal Cord Tumor, Vestibular Schwannoma, Natural History
- Medical subject headings
- Neurofibromatoses, Meningioma, Ependymoma, Neurilemmoma, Spinal Cord Neoplasms, Neuroma, Acoustic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Patients must have the diagnosis of NF2 by established clinical criteria or genetic testing. |
What is being measured
The primary outcome is the main question the study is designed to answer.
To determine the natural history (clinical and radiographic) of nervous system tumors in NF2
Clinical Variables (longitudinal: measured annually for each subject)a. Subjective speech and swallowing dysfunction (binary)b. Spinal cord function:Modified ASIA Motor Scalec. Ambulatory status:modified McCormick grading scaled. Overall function:Karnofsky Performance Statuse. NFTI-QOLf. Functional Independence Measure scale MRI Variables (longitudinal: measured annually for each subject):a. Tumor volume (continuous variable) for VS tumors, meningiomas, other schwannomas, ependymomas, and Total tumor burden (number and volume). Specific growth rates of tumors.b. FLAIR hyper-intensity MRI Variables (cross-sectional: measured at baseline and as needed for each subject):c. MRI of Right Upper and Lower Extremity Laboratory testing variables (longitudinal:measured annually for each subject):a. Audiometry Laboratory testing variables (cross-sectional:measured at baseline and as needed for each subject)b. EMG/NCV study valuesc. Vestibular testing Covariate variable:a. Ageb. Sex
Measured: annual for up to 10 years
Secondary outcomes (4)
To identify the underlying causes, and patterns of progression of speech and swallowing problems in patients with NF2
Self-reported swallowing deficits (binary, yes vs no) based on the last Visit (cross-sectional data)
Measured: Annual for up to 10 years
To identify imaging biomarkers of hearing loss in patients with NF2
MRI Variables (longitudinal: measured annually for each subject):a. Tumor volume (continuous variable) for VS tumors, meningiomas, other schwannomas, ependymomas, and Total tumor burden(number and volume). Specific growth rates of tumors.b. FLAIR hyper-intensity MRI Variables (crosssectional: measured at baseline and as needed for each subject
Measured: Annual for up to 10 years
To identify the etiology of peripheral neuropathy in patients with NF2
MRI images of the Right upper extremity will be evaluated for the presence of peripheral nerve lesions at baseline. These imaging findings will be evaluated with respect to EMG/NCV results.
Measured: Annual for up to 10 years
To identify serum biomarkers of NF2 disease progression
determination of serum biomarker status and suspected biologic markers of disease progression using quantitative immunoassay or newer proteomic approaches
Measured: Annual for up to 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jan 2008 (estimated)
- Study start21 Mar 2008
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for NeurofibromatosisStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 269 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Prashant Chittiboina, M.D., Principal investigator, National Institute of Neurological Disorders and Stroke (NINDS)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00598351
- Sponsor's protocol ID
- 080044
- Other IDs
- 08-N-0044
- Status last verified
- 18 Feb 2026
- First submitted
- 10 Jan 2008
- Last updated
- 16 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2).
- ClinicalTrials.gov ID
- NCT00598351
- Acronym / sponsor ID
- 080044
- Conditions
- Neurofibromatosis
- Keywords
- Meningioma, Ependymoma, Schwannoma, Spinal Cord Tumor, Vestibular Schwannoma, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 269 participants (estimated)
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 21 Mar 2008 (actual)
- First posted
- 21 Jan 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
...
Detailed description
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients | – | –Patients must have the diagnosis of NF2 by established clinical criteria or genetic testing. |
Who may qualify
- Ages
- 8 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- subjects with a diagnosis of NF2 by established clinical criteria or genetic testing
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (6 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To determine the natural history (clinical and radiographic) of nervous system tumors in NF2
Time frame: annual for up to 10 years
Clinical Variables (longitudinal: measured annually for each subject)a. Subjective speech and swallowing dysfunction (binary)b. Spinal cord function:Modified ASIA Motor Scalec. Ambulatory status:modified McCormick grading scaled. Overall function:Karnofsky Performance Statuse. NFTI-QOLf. Functional Independence Measure scale MRI Variables (longitudinal: measured annually for each subject):a. Tumor volume (continuous variable) for VS tumors, meningiomas, other schwannomas, ependymomas, and Total tumor burden (number and volume). Specific growth rates of tumors.b. FLAIR hyper-intensity MRI Variables (cross-sectional: measured at baseline and as needed for each subject):c. MRI of Right Upper and Lower Extremity Laboratory testing variables (longitudinal:measured annually for each subject):a. Audiometry Laboratory testing variables (cross-sectional:measured at baseline and as needed for each subject)b. EMG/NCV study valuesc. Vestibular testing Covariate variable:a. Ageb. Sex
4 secondary outcomes
To identify the underlying causes, and patterns of progression of speech and swallowing problems in patients with NF2
Time frame: Annual for up to 10 years
To identify imaging biomarkers of hearing loss in patients with NF2
Time frame: Annual for up to 10 years
To identify the etiology of peripheral neuropathy in patients with NF2
Time frame: Annual for up to 10 years
To identify serum biomarkers of NF2 disease progression
Time frame: Annual for up to 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Prashant Chittiboina, M.D. principal investigator
National Institute of Neurological Disorders and Stroke (NINDS)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 16 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Christina P Hayes, C.R.N.P. ((301) 496-2921, christi.hayes@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To determine the natural history (clinical and radiographic) of nervous system tumors in NF2 (time frame: annual for up to 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Oct 2026.