Guest guest Posted July 1, 2004 Report Share Posted July 1, 2004 Thanks Ruth for bringing this to my attention. http://clinicaltrials.gov/ct/show/NCT00025870?order=4 Alice Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 1, 2004 Report Share Posted July 1, 2004 Hi all, I was reading the clinical trials website, and was wondering how many people who have had muscle biopsies, also have the results of genetic testing. I am still waiting after more than a year and a half for my genetic testing results. What I'm wondering, is it that they can't find anything, or that they are still really swamped down there in Georgia (get it, swamped, Georgia!) My younger son is scheduled for a brain MRI and a bunch of blood and urine tests, and I'd really rather have him avoid the brain MRI if possible due to the sedation. But the genetic results seem to be delayed... Has anyone gotten a report that said " mutation not found " or similar, or are there genetic testing results that are " pending " after years? Thanks, RH > > Thanks Ruth for bringing this to my attention. > > http://clinicaltrials.gov/ct/show/NCT00025870?order=4 > > Alice Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 1, 2004 Report Share Posted July 1, 2004 RH I had my biopsy in Atlanta. I also had genetic testing. At one point they wanted blood from some other family members. It took almost two years to get a report and they didn't find anything. It was disappointing as I was hoping my boys could just get a blood test. Dr. Cohen and my MDA doc still think it is a mtDNA defect. They only tested complex I and some transfer genes. I hope you get yours soon. laurie > > Reply-To: > Date: Thu, 01 Jul 2004 15:02:45 -0000 > To: > Subject: Re: Clinical Trial at NIH > > Hi all, > > I was reading the clinical trials website, and was wondering how many > people who have had muscle biopsies, also have the results of genetic > testing. I am still waiting after more than a year and a half for my > genetic testing results. > > What I'm wondering, is it that they can't find anything, or that they > are still really swamped down there in Georgia (get it, swamped, > Georgia!) > > My younger son is scheduled for a brain MRI and a bunch of blood and > urine tests, and I'd really rather have him avoid the brain MRI if > possible due to the sedation. But the genetic results seem to be > delayed... > > Has anyone gotten a report that said " mutation not found " or similar, > or are there genetic testing results that are " pending " after years? > > Thanks, > RH > > > > >> >> Thanks Ruth for bringing this to my attention. >> >> http://clinicaltrials.gov/ct/show/NCT00025870?order=4 >> >> Alice > > > > Medical advice, information, opinions, data and statements contained herein > are not necessarily those of the list moderators. The author of this e mail is > entirely responsible for its content. List members are reminded of their > responsibility to evaluate the content of the postings and consult with their > physicians regarding changes in their own treatment. > > Personal attacks are not permitted on the list and anyone who sends one is > automatically moderated or removed depending on the severity of the attack. > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 1, 2004 Report Share Posted July 1, 2004 Thanks, I hope so, but I'm not sure. They think mine is a nuclear DNA defect, I know there is more DNA in the nuclear DNA than mitochondrial DNA, but I'm not familiar enough with the techniques to say that a nDNA mutation would take longer to find than a mtDNA mutation. I do have a sneaky suspicion that my " mitochondrial disease " (Complex I defect proven by muscle biopsy) is secondary to another condition, but I haven't gotten any clues to what. I (and my doctors I think) wonder how I can be relatively strong and have such an obvious Complex I activity defect (absence of Complex I activity (=0) when normal was 50 for older people and 100 for younger people (under 50 years old). I am 35... Take care, RH > >> > >> Thanks Ruth for bringing this to my attention. > >> > >> http://clinicaltrials.gov/ct/show/NCT00025870?order=4 > >> > >> Alice > > > > > > > > Medical advice, information, opinions, data and statements contained herein > > are not necessarily those of the list moderators. The author of this e mail is > > entirely responsible for its content. List members are reminded of their > > responsibility to evaluate the content of the postings and consult with their > > physicians regarding changes in their own treatment. > > > > Personal attacks are not permitted on the list and anyone who sends one is > > automatically moderated or removed depending on the severity of the attack. > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 1, 2004 Report Share Posted July 1, 2004 RH They have identified a great deal in the mtDNA, but not much other than the known defects for things like MELAS. I wonder if they are first looking at the mtDNA. They were not even looking at the nDNA except for the few known defects (these had already been ruled out, I am pretty sure). laurie > > Reply-To: > Date: Thu, 01 Jul 2004 18:16:29 -0000 > To: > Subject: Re: Clinical Trial at NIH > > Thanks, I hope so, but I'm not sure. They think mine is a nuclear > DNA defect, I know there is more DNA in the nuclear DNA than > mitochondrial DNA, but I'm not familiar enough with the techniques to > say that a nDNA mutation would take longer to find than a mtDNA > mutation. > > I do have a sneaky suspicion that my " mitochondrial disease " (Complex > I defect proven by muscle biopsy) is secondary to another condition, > but I haven't gotten any clues to what. I (and my doctors I think) > wonder how I can be relatively strong and have such an obvious > Complex I activity defect (absence of Complex I activity (=0) when > normal was 50 for older people and 100 for younger people (under 50 > years old). I am 35... > > Take care, > RH > > > > >>>> >>>> Thanks Ruth for bringing this to my attention. >>>> >>>> http://clinicaltrials.gov/ct/show/NCT00025870?order=4 >>>> >>>> Alice >>> >>> >>> >>> Medical advice, information, opinions, data and statements > contained herein >>> are not necessarily those of the list moderators. The author of > this e mail is >>> entirely responsible for its content. List members are reminded > of their >>> responsibility to evaluate the content of the postings and > consult with their >>> physicians regarding changes in their own treatment. >>> >>> Personal attacks are not permitted on the list and anyone who > sends one is >>> automatically moderated or removed depending on the severity of > the attack. >>> >>> >>> >>> Quote Link to comment Share on other sites More sharing options...
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