Just a quick update. I got back home at midnight and am exhausted from walking in the cold. I also want to review my notes and the photos of the slide presentations before going into more depth. There was a lot more to this than gene therapy, so I will have to post some updates on chelation (L1 still can't be beat), BMT and also try to give some idea of the scope of what is involved in getting to this point with gene therapy. Everyone needs to remember that this research has been going on for years and that we cannot expect anything soon in terms of general use in patients.
The final information has been filed with the FDA. If they do not hear back from the FDA within 60 days, they are free to proceed. The important things have all already been approved by the FDA and this should be routine. The first vector has been ordered and is expected in June. It then has to be tested for 60 days (if my foggy late night memory is correct) and the hopes are that the first patient will be started sometime around September/October. If hemoglobin is expressed by the new genes, more patients will be added to the trial, with a goal of ten patients. Interestingly, no patient with an HLA matching sibling will be allowed in the trial, as bone marrow transplants are already a proven cure, although this varies greatly depending on where it is done. Sloan Kettering does do some BMT's, and while it is not a large number compared to other centers, all 16 patients who have had BMT's at Sloan Kettering since 1995 are still doing well today, making their own blood and cured of thalassemia. So, BMT is considered the first option, disallowing any patient with a matching sibling from these trials. This will be exciting to watch unfold. The one drawback of the gene therapy trials in mice was that mice don't have long lives, so the long term effect on hemoglobin production could not be measured. However, the mice did live normal length lives after the gene therapy and were able to produce their own hemoglobin for the duration of their lives.
I was cautioned by several people that we should be realistic and not expect anything for real world use too soon. But we need to remind ourselves how many years it has taken to develop new iron chelators. Exjade was in the works back in the 1980's. Starch DFO has been in development for 20 years and I hope they can secure funding, because in some ways it is better than any other chelator. New drugs and new therapies take many years to develop ad long term efficacy and safety will have to be proven.
One observation. A large part of the focus today was on convincing investors that this will pay off. I did get a hint from a couple different potential investors that they are seriously considering putting money into Errant Gene. If this comes through, this may be as important as the announcement that trials will be happening this year. I wish Pat G much success in getting the funding to make this all happen. It was a pleasure to finally meet him.