[Greg H]

Hi Bergit!

When I consented to the Campath trial, I consented to also have additional vials of blood drawn "for research purposes" on each of my visits to NIH. At the time I signed the consent, I asked the research nurse what sort of studies my blood might be used for, and she mentioned work they were doing on telomeres.

So I think these extra vials were the reason I was tested; testing for either telomere length or TERT & TERC mutations is definitely not yet part of of the standard diagnostic toolkit for MDS in the US. I gather that measuring telomere length is pretty difficult and expensive. But there is a commercially available test for the mutations. I'll bet that, in five years of so, it will be common to have a battery of genetic tests for folks with MDS.

Dr. Neal Young, Dr. Rodrigo Calado, and Dr. Phillip Scheinberg, all at NIH, have published quite a few papers over the past decade on telomere length and TERT & TERC mutations and their association with bone marrow failure -- particularly Aplastic Anemia. This appears to be a very active area of research that is only now coming out of the lab into the clinic.

One of their studies that examined AML patients found TERT mutations associated with Trisomy 8, but I haven't found any follow-up on that as of yet.

Interesting point about female use of Danazol: the first use for the drug in the US was as a treatment for endometriosis -- in the early 1970s. But it can result in unwanted hair growth, apparently. I think it has also been used for doping by athletes. Though I don't completely understand the mechanics of this, I've read that excess testosterone is "aromatized" into estrogen analogues in the human body, so that male bodybuilders using synthetic testosterone can find their breasts enlarging. But, thankfully, I have read nothing about this as a possibility in the list of Danazol side effects (though those lists seen to focus on use of the drug by women).

I will definitely be posting an account of my experience in the trial here and on my blog, if I'm accepted. And other marrowforums folks -- all ladies, so far -- are also on the Danazol trial.

I hope you are doing well; it's nice to hear from you.

Take care!

Greg