Researchers are exploring ways to inhibit a protein known as p53. This protein helps the body to kill off unwanted cells. In individuals with TCS, p53 is abnormally activated, leading to the loss of cranial neural crest cells and ultimately the craniofacial symptoms of TCS. Methods to inhibit the production of p53 or to block the mechanisms that lead to p53 activation may an effective treatment avenue for affected individuals. More research is necessary to determine the long-term safety and effectiveness of such medications and what role they may play in the treatment of individuals with TCS.
Some researchers are studying the use of stems cells found in fat tissue (adipose-derived stem cells) as an adjunct therapy to surgery in individuals with craniofacial disorders such as TCS. Initial results have shown that surgical outcomes may be improved using these stem cells to help stimulate regrowth of the affected areas. However, this therapy is experimental and controversial, and requires more research to determine its viability as a potential therapy.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: