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.

A trial treatment currently underway in Boston is assessing the outcome of daily injections of IGF-1, a growth factor which has been used for many years to increase height in children of unusually small stature, or who lack normal levels of IGF-1. The rationale for using this as a treatment in Rett is a 2009 publication in PNAS. The study noted improvement of certain functions in Rett mouse models in response to IGF-1 administration, although the mice still developed the full range of symptoms and died prematurely. The double-blind trial explores whether significant results will be seen in human subjects, and if so, whether they will be sustained post-treatment.

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.

RSRT is not a traditional grant- making organization. Rather, we are instrumental in identifying the research agenda and assisting in its execution.  In fact, the concepts for most of the projects we fund were originated by RSRT and our advisors.

RSRT stimulates and accelerates development of both treatments and a cure via intensive, ongoing engagement with individual labs, biotech companies and in-house pharmaceutical research. We closely monitor not only the efforts of scientists working on MECP2 but also the research community at large. This allows us to quickly identify and recruit the interest of scientists doing synergistic work that is relevant to our mission.  Thorough due diligence and our extensive and global network of contacts create a deep and active knowledge base that stimulates new work and guides selection of the projects we decide to nurture.

We organize meetings and workshops on an as-needed basis throughout the year. We favor small, invitation-only meetings to promote in-depth discussion and ensure participants of confidentiality, allowing them to share data long before publication, a process that can take years. The success of each meeting is measured in part by how effectively the exchange of ideas, scientific tools and ensuing projects and collaborations move the field forward. Quality, innovation and speed are obviously crucial components to reach the next significant scientific breakthroughs as quickly as possible.