We are in the early stages of understanding Smith-Kingsmore syndrome and how to help persons with it. Current management includes treatment of medical concerns, like seizures, and therapies like speech and physical. While new research will continue to add to our knowledge, so too are we as caregivers continuing to learn every day. We are hopeful that we will benefit from the promising research underway and the support of the medical research community.
Trials and Data Collection:
There are currently multiple studies underway. The aim of these studies is to gain a better understanding of MTOR conditions like Smith-Kingsmore syndrome to help in designing treatments that could greatly improve the lives of persons with it.
We have received requests for information and samples to support this research. Seattle Children’s Hospital Research Institute, Center for Integrative Brain Research, in Seattle, USA, has a long-term study into the genetic causes of developmental disorders. UCLA’s Division of Medical Genetics, in Los Angeles, USA, is starting a comprehensive study of all of the psychiatric, behavioral, neurological, and medical characteristics of children with MTOR changes. The ICR in London, UK, is investigating the causes of increased and/or assymetric growth in children with the Childhood Overgrowth (COG) Study.
In addition, although there is currently no curative therapy for individuals with Smith-Kingsmore syndrome, off-label use of rapamycin / sirolimus is in progress. Sirolimus is an mTOR inhibitor that binds to the protein and decreases activity in the mTOR pathway. It may be promising in reducing or preventing some symptoms of this condition.
We are excited about the potential of this and other treatments under consideration. As additional information or any other research and treatments become available, we will update this site.
Latest Research News:
November 2018: The latest research request comes from the UCLA Department of Human Genetics. The team is conducting a genetic study on individuals with overgrowth conditions, like Smith-Kingsmore syndrome. The attached flyer provides more information and who to contact to participate in the study. You can also contact us to email you a copy.
If you’d like more information on this or any other studies, or for us to keep you informed of any updates and news, please provide your email.