Mefanamic Acid (MFA) and Flufenamic Acid (FFA) are non-steroidal anti-inflammatories (NSAIDS) that showed a 25% and 50% respective recovery of the TASK-3 channel in Mice. These drugs have not been studied in humans or children for the purposes of restoring function in this channel. However, unlike most RARE diseases, having a mere potential treatment is promising. According the Global Genes project, 95% of RARE diseases have no FDA approved treatment. We started our investigation into this potential treatment immediately after diagnosis - and 18 months later, still can't get calls back from the necessary people.
When Preston was first diagnosed there were no other documented cases of this syndrome outside of the original Arab-Isreali family. We read the only two publications available and contacted Allistair Mathie. He had not studied these drugs in humans but we could not ignore that we had a potential treatment. Here in the United States FFA is not available despite it being the potentially more effective drug for Preston. MFA on the other hand is used here in the US under the name Ponstel to treat menstrual cramps. We wanted to take a chance and find someone to help us prescribe the drug off-label for us to try. We realize that actual stem cell research testing the drugs in human cells would be ideal before giving our baby this medication. However, I have tried and still am trying to find researchers to help us with this task. Meanwhile we feel we are up against a clock of brain development in Preston - so I picked up the phone and started cold-calling major genetics departments at the top hospitals to try to get help.
Our local doctors were not interested in going out on a limb and prescribing the drug for us. A doctor at Children’s Hospital of Cincinnati put us in touch with Dr. Graham, a geneticist in Los Angeles. After about five months of back and forth and trying to figure out dosing, we started Preston on MFA in March of 2015. He is taking 125mg twice a day via g-tube. Since we started the medication we have seen subtle improvement. The main improvement we have seen is in arousal state. Preston is more alert, aware of his surrounding and engaged. We have not noticed any major side effects. One of the other little boys here in the US has also started oral MFA treatment.
Since MFA is the less effective drug (in mice) we are still trying to get FFA. The challenge has been trying to find a drug company to help us. I have contacted many of the Japanese and Taiwanese drug companies multiple times with no response. I have tracked down one US company Mylan Pharmaceuticals that purchased a Japanese subsidiary company from Abbott in 2015 that manufactured FFA. Our Doctor at The University of California, Irvine (UCI) had recently had luck with Mylan and submitted our case to the company’s regulatory committee for review. We are attempting to get this drug to use in Preston for compassionate use. We are hopeful they will agree to help us.
FFA is also available as an arthritis cream in many countries. We have not attempted to obtain this cream because our channelopathist feels that a cream is not likely to penetrate the blood-brain barrier. I know that some of the other children are using this ointment. We are fully aware that these drugs may not work. However, we feel that the potential rewards outweigh the risks.