Natural History Study of Patients With Neurofibromatosis Type 2
|First Received Date ICMJE||January 10, 2008|
|Last Updated Date||October 7, 2016|
|Start Date ICMJE||January 2008|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE
||To determine the natural history (clinical and radiographic) of nervous system tumors in NF2|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00598351 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE
||To identify the stochastic factors that underlie the growth of NF2-associated tumors|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Natural History Study of Patients With Neurofibromatosis Type 2|
|Official Title ICMJE||A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2)|
This study will examine over the long-term the progress of patients with neurofibromatosis Type 2 (NF2), a condition associated with tumors of the nerves, brain and spinal cord. It will study patients tumors to learn how fast they can grow and if certain factors might affect their growth. It will also examine the effects of the tumors on patients abilities to carry out activities of daily living.
People between 8 and 75 years of age with NF2 may be eligible for this study. Participants undergo the following procedures:
Initial evaluation, including hearing, eye and balance testing, gait (walk) testing, magnetic resonance imaging (MRI) scans of the brain and spine, blood tests, and physical and neurological examinations.
MRI scans of the brain and spine every 6 months to follow the size and number of tumors.
Physical and neurological examinations and blood tests every 6 months.
Auditory tests every 12 months. These tests evaluate middle and inner ear function and the patient s ability to hear tones at different frequencies and to hear words at different volumes. The subject responds to tones and words that are delivered through earphones.
Eye examination every 1 to 2 years.
Gait testing every 12 months if a spinal cord tumor causes problems with sensation or muscle control in the arms and legs Subjects joints are measured while they walk across a room several times as scientific cameras record their movements.
Vestibular testing if the patient experiences changes in balance or undergoes treatment for vestibular schwannoma (a tumor that develops on the hearing and balance nerves). These tests check the function of various components of the balance system (eyes, inner ear, or leg and body sensation and muscles). They include:
The objective of this prospective natural history study on neurofibromatosis type 2 (NF2) is to gain clinical and molecular insight into the effects of this tumor suppressor syndrome on tumor development and progression and to identify factors linked to symptom evolution.
Two hundred fifty patients, ages 8-75, with a clinical or genetic diagnosis of NF2 will participate in this study.
Study participants will be evaluated with a thorough physical and neurologic examination upon enrollment. This initial outpatient evaluation will include ophthalmologic examination, magnetic resonance imaging with contrast of the craniospinal axis, NF2 research blood procurement and serum biomarker testing. Patients with measurable hearing will have audiology assessment performed during the initial visit. Patients with untreated vestibular schwannomas will have vestibular assessment performed during the initial visit. Whole genome/whole exome sequencing may be performed on blood or tissue obtained from subjects enrolled in this study who have surgery under a related study.
Patients with tumors that affect speech and swallowing production will be seen by a speech language pathologist at the following visit, where a standard clinical assessment of speech and swallowing function will be done. In patients with tumors that affect independent functioning associated with activities of daily living, a physical therapy and occupational therapy assessment will be performed at the following visit.
Subjects will be followed as outpatients for five years, during which clinical, radiologic and serum biomarker evaluation will be performed annually. Auditory testing will be performed annually for patients with measurable hearing. Patients with initially untreated vestibular schwannomas will be followed annually with vestibular testing. Ophthalmologic evaluation will performed every one to three years, depending on the severity of ocular lesions. Peri-operative speech and swallowing reassessments will be performed as medically indicated, when tumors that may affect these abilities are treated. Functional status testing will be repeated peri-operatively and annually thereafter when tumors that may affect independent functioning are treated.
If clinical symptoms attributable to any NF2-associated lesion are progressive in nature or warrant treatment intervention, testing may be repeated more frequently.
Based on data derived from this study, we hope to identify factors that predict tumor development, forecast tumor growth and that underlie symptom formation. These findings should permit the safer treatment of the subset of tumors that will cause symptoms and avoid the unnecessary treatment of lesions that will remain stable (not requiring treatment) in these patients. Moreover, this prospective natural history study should be useful in identifying the stochastic factors that underlie the biology of these tumors.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Time Perspective: Prospective|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Intervention ICMJE||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Active, not recruiting|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
|Ages||8 Years to 75 Years (Child, Adult, Senior)|
|Accepts Healthy Volunteers||No|
|Contacts ICMJE||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries ICMJE||United States|
|Removed Location Countries|
|NCT Number ICMJE||NCT00598351|
|Other Study ID Numbers ICMJE||080044, 08-N-0044|
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|Plan to Share Data||Not Provided|
|IPD Description||Not Provided|
|Responsible Party||National Institute of Neurological Disorders and Stroke (NINDS)|
|Study Sponsor ICMJE||National Institute of Neurological Disorders and Stroke (NINDS)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||October 2016|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP