Skin Biopsy

Has anyone ever had a skin biopsy done for ALS? After talking to the neurologist he would like to do this. I know it is primarily for research purposes - but I am wondering exactly how bad it is to go through.

Our neuro is very interested in Jim's case and would like to get us much info as he can for research purposes - especially since Jim's grandmother died from PSP (para supra nuclear palsy) - which I am learning more and more shares some things with both ALS and FTD. We have ok'ed another blood test for research purposes/dna work.

I want to do all we can - but at the same time I don't want to put Jim through hell.

Heard of lots of muscle biopsies but skin is a new one for me.

AL.

I guess it is the best way to get live cells to "view"

Shelly, could you call and ask how much skin they need to take? Perhaps you already know that... It just occurred to me that very little may be needed, and not a big deal to go through. Personally, I like decisions made in terms of how much it hurts.

That's curious that they want to look at the skin. I've heard of a very advanced and sophisticated kind of research where they can take skin cells and revert them back to the embryonic state where they become stem cells. Then they can convert the stem cells into whatever they want, including nerve cells. For people with hereditary MND they can study whether these neural cells also show signs of disease, test treatments on them, etc. Like I said, this is really cutting-edge research so I doubt that is what is happening here, but it would be interesting to find out.

Hi Shelley, my mom has ALS and FTD. She has been seen by 3 neuro's over the course of 3.5 years. Not one of them--including the ALS specialist she goes to now--has ever shown any interest in her past health or lifestyle issues. I've always thought it very odd that they didn't want to find out all they could, seeing as how ALS is such a grim diagnosed--minimal treatment, no cure. Maybe the major regional medical facility my mom goes to is doing research, but she is just not included (I'll have to ask at her next clinic appointment). If Jim's doctor says it's not too painful or traumatic, I would go for it (just my own opinion). Personally, I would welcome my mom's Dr's interest in the research of these horrible diseases.

Just out of curiosity, how many of you see a neurologist who has shown much interest into the research aspect? You'd think there would at least be some kind of universal questionnaire, to see if ALS or FTD patients have some commonality(ies).

Laura

We switched clinics to one that is very involved in research. It involves 500 miles of travel as opposed to 25, but is well worth it to us.

I was going to say the same thing as Hal.. .I've heard of skin cells being harvested for ALS-related stem cell research. Maybe that's what the doc was talking about?

I've personally had several skin biopsies done and they're not that big a deal... at least mine weren't.

Hi Shelley
I have had heaps of skin biopsies as I get skin cancers. I think there are different sorts, but the most common is a punch biopsy. I had 3 last year cause I got lupus from the Ivig I was having. It's not a big deal and doesn't hurt. They put in a tiny amount of LA then take a punch of tissue and put 1 or 2 stitches in. They are removed about 5 days later. So nothing to be worried about
Aly

Skin biopsies to generate cell lines for study of ALS
Nicholas Maragakis, MD – Principal Investigator

Clinical Trials

I remember Catie Kouric talked about the skin biopsy in ALS. She gave a biopsy punch on the news. She was friends with Jeniffer Estees, she even wrote the forward to her book. From time to time she will report on ALS.

Also:

"A team of researchers at the Harvard Stem Cell Institute in Boston published a series of experiments Thursday showing that synthetic biological signals can quickly reprogram ordinary skin cells into entities that appear virtually identical to embryonic stem cells. Moreover, the same strategy can then turn those cells into ones that could be used for transplants."


Read more.