Research

There is only one road to treatments and a cure for Rett Syndrome and it’s called research. If you are visiting our website because you love a child with Rett Syndrome, you are probably seeking the answer to this question: Will there be a cure for Rett Syndrome and if so, when?

A distinction must be made between treatments for Rett and a cure for Rett. A truly effective treatment should ameliorate or even eliminate a particular symptom or set of symptoms.  The array of severe symptoms in Rett Syndrome is so significant that controlling even one or two could dramatically improve a patient’s quality of life.  A cure, on the other hand, completely restores an individual to health.

Recent data from a variety of labs suggest there may be many ways to improve Rett symptoms pharmacologically – at least in mice. The next few years will continue to bring clinical trials and pilot studies of existing medications and procedures to explore whether, applied individually or perhaps in combination, they can relieve symptoms. While past trials have been informative but largely unsuccessful, as the basic science and research tools advance we should see improvement in managing some of the distressing problems that plague children and adults with Rett Syndrome. A 2011 paper from the lab of Huda Zoghbi suggests that the nature of MECP2 deficits may dictate lifelong administration of treatments found to be effective.

Achieving the kind of cure that we envision for our children will likely require addressing the underlying genetic problem: repairing the MECP2 mutation via some kind of gene correction and/or gene therapy or protein replacement; activating the silent, healthy MECP2 on the inactive X; or finding a way, perhaps through modifier genes, to bypass MECP2 altogether.