Observing the progression of neurofibromatosis type 2

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

This study is trying to learn more about how neurofibromatosis type 2 affects people and what causes tumors to grow by following 269 participants over ten years with various tests and check-ups.

Quick facts

• Study type: Observational
• Enrollment: 269 (estimated)
• Ages: 8 Years to 75 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (nih)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT00598351 on ClinicalTrials.gov

What this trial studies

This observational study aims to understand the factors that contribute to tumor progression and the neurological burden associated with neurofibromatosis type 2 (NF2). A total of 269 participants aged 8 to 75, diagnosed with NF2 either clinically or genetically, will undergo thorough physical and neurological examinations, including MRI scans and blood collection. Participants will be followed for up to ten years with annual evaluations, including auditory and vestibular assessments for those with measurable hearing and untreated vestibular schwannomas. The study seeks to gather comprehensive data to better understand NF2 and its impact on patients.

Who should consider this trial

Good fit: Ideal candidates are individuals aged 8 to 75 with a clinical or genetic diagnosis of neurofibromatosis type 2.

Not a fit: Patients with clinically unstable conditions or those unable to undergo MRI scans due to contraindications may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of neurofibromatosis type 2, potentially enhancing patient care and outcomes.

How similar studies have performed: While this study focuses on the natural history of NF2, similar observational studies have provided valuable insights into other genetic conditions, suggesting potential for success.

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).

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)

Study contacts

• Principal investigator: Prashant Chittiboina, M.D. — National Institute of Neurological Disorders and Stroke (NINDS)
• Study coordinator: Christina P Hayes, C.R.N.P.

Conditions: Neurofibromatosis, Meningioma, Ependymoma, Schwannoma, Spinal Cord Tumor, Vestibular Schwannoma, Natural History