Recent medical advances have led to new potential treatments for tumors, including tumors related neurofibromatosis type 2 (NF2). NF2 is a genetic disorder that causes tumors to grow in the brain, often leading to hearing loss and other complications.

Researchers have come to understand that NF2-related vestibular schwannoma tumor cells make high levels of a substance called vascular endothelial growth factor (VEGF). VEGF stimulates formation of new blood vessels that feed tumors and help them grow. Inhibiting VEGF may slow new blood vessel formation and may slow tumor growth. Drugs targeting new blood vessel formation in tumors are currently available to treat other types of cancer, such as those of the brain, lung, breast, colon and rectum, kidney, and liver. Some data are available to suggest that blocking VEGF may be useful in NF2.

PTC Therapeutics has developed an oral investigational new drug called PTC299. PTC299 is designed to only block tumor-produced VEGF and not to affect the VEGF necessary to maintain the growth and function of normal blood vessels.

In animal studies, PTC299 has been shown to decrease tumor VEGF and slow or stop the growth of tumors or cause them to shrink. Short duration, early phase clinical trials in healthy adult volunteers and patients with cancer have evaluated the safety of PTC299. Results from these trials show that adverse events observed in people receiving PTC299 at high doses have been infrequent, mild to moderate, and not usually considered to be likely caused by PTC299.

PTC Therapeutics is now conducting a clinical trial of PTC299 in adults with NF2. The study is testing PTC299 to see if the drug can slow the growth of NF2-related vestibular schwannoma tumors or can improve NF2-related hearing loss or both.

Participants take PTC299 by mouth twice per day. Each patient receives the drug continuously for up to 48 weeks. Magnetic resonance imaging (MRI) scans, hearing tests, and blood tests are conducted before the first dose and every 8 weeks during the course of treatment.

Clinical Trial Status

PTC and Massachusetts General Hospital have completed patient enrollment of the first of two stages in the clinical trial. Please note that enrollment of this trial is limited to 25 patients and is anticipated to be fully subscribed.

The status of the trial on our website and on www.clinicaltrials.gov will continue to be noted as “recruiting” until the required number of patients have completed enrollment.

If you would like to receive updates on this Phase 2 study and potential future studies in NF2, please visit the “Contact Us” section of this website and check the box to indicate that you wish to receive updates on neurofibromatosis.

Additional details about this PTC299 clinical trial can be found at www.clinicaltrials.gov or by contacting Patient and Professional Advocacy at (866) 282-5873 (toll free in the United States), (908) 912-9256 or PatientInfo@ptcbio.com.