My sweet 5 year old completed the US drisapersen trial a few months ago. He has some mild cognitive delay, and I don't think he ever really understood why he had to drive 3 hours every week to get a blood draw and painful injection. However, he managed to maintain a cheerful attitude throughout the trial (except for the general anesthesia and myriad pharmacokinetic blood draws for his 2 muscle biopsies). We now know he was receiving the low dose of the investigational drug, which we suspected based on his improvements. At the start of the trial, right after turning 5, he wasn't able to get in our car without assistance, or run. At the end of 6 months, he could climb in unassisted, run, and walk forever ( much improved stamina). however, his 6 minute walk test was very influenced by his attitude each day - with his cognitive delay, he didn't understand the importance of consistent effort and would apparently stop when distracted. he was too noncompliant to complete the northstar. His ability to relate to people and attend at school also improved markedly.
A few months into the washout phase, his stamina started to decrease and he can no longer climb stairs, get into cars. He needs a wheelchair for long distances. I am very concerned that not only was the drisapersen dosing halted, but that the FDA is requiring a placebo arm in the eteplirsen trial. My son is brave. He survived one trial, and he would survive another. But, in a disease where the natural history is known, to rob even one boy of his chance to continue walking by forcing him onto a placebo is cruel. It's inhumane and unacceptable.
While I understand the need for caution, the inexorable progression of this terrible disease means there is NO TIME for placebo group. there is NO TIME for prolonged application processes and delays. If my son looses his chance to walk because the FDA takes a long time to process trial or new drug applications, I will never forgive the FDA. How could you live with yourselves? As far as risks and the need for caution: I'm a physician as well as a mother of a son with duchenne. I'm very familiar with risk versus benefit. I know that you understand that Duchenne is fatal. In that case, since there is NO OTHER TREATMENT for my son, I will risk proteinuria. i will risk thrombocytopenia. I will risk all the unknown risks, because my son has 5 years at most before he is condemned to a wheelchair and then death. Why can't you see that the risk of doing nothing is certain death? These exon skipping drugs don't cause certain death, right? So don't tell me you are so concerned about the risk/benefit analysis that you are not giving these drugs time to prove themselves.
Please don't patronize the parents who live with this disease every day, by "protecting" our sons from unknown risks while condemning them to certain death. As far as drisapersen's effectiveness is concerned, I would like to have more time to see what happens. If you take the drug away from my son, you'll never know if the study was underpowered, flawed, or affected by duchenne boys not being able to reliably complete the outcome measures due to cognitive delays. In 5 years, it will be simple to see if the drugs are effective. is the boy walking, or in a wheelchair? It's not like being on this drug will prevent us from seeking a better therapy. There is no better therapy. There must be no placebo arm for eteplirsen, and possibly a compassionate dosing arm for the drisapersen boys. Let the trials go longer so you can see what I see.
My son is brave. He takes risks, every day when he gets up slower than his unaffected little brother, when he trails behind the neighbor kids who run from house to house, When he struggles at school with things other kids find easy, when he spends time in painful stretches, getting blood draws and doctor appointments instead of playing. Can't you change your old way of looking at new drugs? Can't you adapt to the timeline of this terrible disease, given that we have hope for the first time in history? Can't you support my son? Can't you give him a chance to be the first generation of boys with Duchenne to have a lifetime?