Kickas.org Forums Ankylosing Spondylitis General Discussion #1 AS Web Support Group AS Family Genetic Study

Hey Friends,

I'm fairly new here as are many others, and I'm not certain whether this topic has ever been brought up or if there is general support for this, but thought I'd mention that the Spondylitis Association of America has been working together with the University of Texas (Houston) and the NIH to do genetic research to try to find a cure for AS. They are looking for siblings with a confirmed diagnosis of AS to participate in this study, and it looks like they still need more siblings to complete their research.

Sooooo, if you and your sibling(s) qualify, check out the link below and see if you'd like to participate.

http://www.spondylitis.org/patient_resources/as_study.aspx

This link also reveals some interesting insights into the HLA-B27 gene for general information.

I would be interested to know if anyone has participated in this research (and what your experience has been with this) or is planning to. As an aside (particularly since testing in the US can be $$$) NASC medical centers can offer free x-rays, exams and the HLA-B27 blood test to symptomatic family members of a patient with an established diagnosis of AS. This could be a blessing to someone in need of confirming a diagnosis who has limited means.

Hi Sigrid,

I am familiar with the Sibling Study as I volunteered for it and my brother also has AS. I saw an article in the Spondylitis Magazine I recieve and sent an email to inquire about it. It involved myself, my brother (of course), my mother and children. We all were sent a blood draw kit and went to the local hospital to have it done. Once it was sent back to the University of Texas-Houston Health Science Center we had to wait (a few months) as I was told they send the blood samples out to a lab. After what seemed like a long wait, I inquired about the results. I was told that we were dropped from the study because my brother didn't have AS. I've spoken with him since and he didn't know why they came to that conclusion because he was diagnosed with AS (we both had the same rheumy at the time). So I'm going to contact them again to see how/why they came to that conclusion.

I'm also now involved in another AS research study that is being done by Johns Hopkins Hospital and the National Institue of Health (NIH). This research is being done to see if a special X-ray method can measure changes in the stiffness or fusion of the spine better than regular X-rays. This special X-ray is computed tomography or a CT scan. It will help them see if this method can be used to measure how fast extra bone forms in the spine in people with AS. This may give them a better way to test in the future if any medicines can slow or stop the bones in the spine from fusing.

The Eligibility Criteria for this study is:

~Must be 18 or older
~Onset of AS at age 17 or older
~Not currently taking or planing to receive treatment with anti-TNF alpha
medications
~Must not have complete fusion of spine
~Must be able to travel to the National Institute of Health (NIH)

This study has 7 visits over a 24 month period. Visits are once every 4 months. My first visit (study entry visit) was at Johns Hopkins Hosp. I had to read and sign a consent form, had some blood drawn, filled out a 30 minute questionaire and did a series of range of motion tests. The coordinator of this research told me I am the first in this study.

My next visit is next Friday (4 wks after entry visit). I have to go to the NIH in Bethesda, Md, near Washington D.C. I have to be there at noon and am told that I will again sign a consent form and they will create a medical chart for me. At 1pm I see Dr. Michael Ward, who is conducting this research, for a brief history and a physical exam. At 2pm I have X-rays done of my lumbar and cervical spine and pelvis. At 3pm is my CT scan of the lumbar spine and then at 4pm is the MRI of the lumbar spine. It's at the 2nd, 4th and 7th visit that I will have these tests/xrays done again. The other visits are the questionaire, range of motion tests and blood draws.

It is completely voluntary and I can choose to stop at any time. I don't plan to stop as I am hoping that those of us with AS may benefit one day from the research they are doing.

Thanks for the link. I had looked at this before but never put the two ideas of having a sib tested as noone else has come up with it in our family tree, together. My sister youngest to me (we're two of eleven) needs to get tested for sure and this may suit her finances so I'll mention it.

Good to see you Michelle, and thanks for taking part in the study.

best
Klem

Thanks Michelle for posting this information on this new study. Hopefully some other As Kickers are in a position to volunteer for this study too.

You are welcomed. Hopefully this may help your sister with her diagnosis. I think you'll both have to explore the sib study together.