As the result of meetings just held in Washington DC, many of our elected officials are thinking about Rett syndrome right now.
WHY THEY ARE THINKING ABOUT RETT SYNDROME
We at Rettsyndrome.org have requested that report language is included in the Department of Defense’s fiscal year 2016 appropriations bills that would allow funding to be used for clinical trials for Rett syndrome. Our Chief Science Officer Steve Kaminsky, PhD, recently met with officials asking them to include Rett syndrome in the “Peer Reviewed Medical Research Program.” Being included in this program would allow Rett researchers to compete for this additional federal funding. Rett syndrome represents a clinical model of synaptic disorder associated with brain injury, as seen in wounded warriors. Clinical trials in Rett syndrome could lead to new avenues to approach traumatic brain injury (TBI).
Traumatic brain injury has affected the lives of over 300,000 veterans and warfighters and shares common synaptic dysfunction to Rett syndrome and leads to physical, cognitive, emotional and behavioral problems. Soldiers suffering from TBI can develop tremors, uncoordinated muscle movements, shock-like contractions of muscles, loss of range of movement and control, seizures and loss of vision, hearing and smell. These brave men and women may suffer from changes in personality, emotional instability, depression, anxiety, hypomania, mania, apathy, problems with social judgment and impaired conversation skills.
Among the challenges with discovery based research in TBI are that no two injuries share common pathology, so controlling the clinical research is very difficult. Rett syndrome, being a single gene disorder, has a known cause of the neuronal damage and can be studied in a controlled research setting. The fact that both disorders have associated synaptic dysfunction makes Rett syndrome an excellent model to identify possible treatments for TBI. Drugs currently in clinical trials to treat Rett syndrome are expected to be found to be effective in treating those suffering from TBI.
WHY THIS IS IMPORTANT
Including Rett syndrome in the list of diseases and disorders eligible for study under the peer reviewed medical program will allow researchers from all over the country to compete for this funding. Institutes that have conducted research or that are currently participating in clinical research include Baylor College of Medicine, Boston Children’s Hospital, Children’s Hospital of Philadelphia, Emory University, Gillette Children’s, Rush University Medical Center, University of Alabama at Birmingham, UCSF, UC San Diego, University of Cincinnati, University of Colorado Medical School, University of Rochester, and Vanderbilt University.
Using Rett syndrome as a model for TBI also has the potential of making these medications available more quickly. Because Rett syndrome is a rare disease, drugs are eligible for Fast Track, Breakthrough Therapy and Orphan Drug Status from the Food and Drug Administration that may allow treatments to gain approval faster than they would if developed solely for the purpose of treating TBI.
This was an initial effort to obtain funding through the DOD accounts. We will continue to educate elected officials on Rett syndrome and hope that through these advocacy efforts we will obtain additional funding to identify treatments for Rett syndrome and other neurological disorders.
Rettsyndrome.org is a 501c(3) non-profit corporation registered as the International Rett Syndrome Foundation