From Dr. Linda:
1) questions about “what does this mean in plain language”
Many of you have asked me what this new breakthrough with finding a mutated gene that caused a PWS or Sturge Weber means. In plain language, what this means is that 1) Moms or Dads did nothing to cause this 2) There was a mutation in a gene that caused this 3) Now we can work toward a treatment that will “repair” the mutation and resolve the stain but this would ONLY occur after an accurate diagnosis is made and that can only be done once the baby is born. Gene therapies are currently being used to treat Parkinson’s disease and lymphoma where once they found the mutated gene they then created a pharmaceutical drug to “repair” the mutation and treat the disease. That is likely how this will work but it will take a while before we see it in action.
2) questions about if only kids will get the treatment or only adults or both (when it is available)
Many people have asked who this will apply to. This will apply to ALL ages. Consider people with Parkinson’s Disease. Doctors found the mutated gene and created a drug therapy to correct the mutation. Anyone who gets Parkinson’s will be able to try the new gene therapy. Same with this. They found the mutated gene and will now begin working on a drug that will correct this mutation. I highly doubt the FDA will approve use of a drug on babies first so they will likely try it on adults, when it comes out. However, everyone should continue with their current treatment plans and remain optimistic about the future. But, remember, this will take a while, like a few years, before we see a treatment.
3) question as to whether research is being done for KTS or if this will apply to KTS
According to Dr. Martin Mihm, Jr., head of research for the VBF, the KTS stain is different from the PWS or SWS stain. This study was done by collecting tissue samples from over 300 people with PWS and SWS. I believe they would need to do the same for KTS but it is a good chance for people to start thinking about that study next, if they are not already doing it.
4) when will the therapy be available?
The real question you all want answered is “when”? Gene therapy is still under medical and ethical scrutiny in the USA. Now that the gene has been identified, the next step is to “create” a drug or recreate the healthy gene and put it into a solution to be administered to the individual. Once they have created this “substance” it will undergone strict clinical trials. Once the clinical trials have been evaluated, it will require further FDA and NIH approval before a therapy will be approved for treatment and as I have said, they typically start with adults and then children. They will likely have to create a profile of who should go first. I suspect individuals with SWS who volunteer (adults) will be given preference. We must focus on the fact that they have found a mutated gene, thanking GOD for this miraculous discovery and then the docs will need more tissue samples and funding to continue the research to create the gene therapy. We are talking YEARS before we see a therapy but that means we WILL SEE A THERAPY. This brings hope and excitement to all of us. As I have previously stated, everyone must continue their current lines of treatment until further information is made available.