Bicuspid Aortic Valve Registry / Study

[Duff Man]

Hey Gang, I just want to let everyone know about this study they just started at the University of Michigan for Bicuspid Aortic Valvers and ex BAVs. They're registering 500 people for a fairly passive / retrospective study of their "charts", and they're going to follow the subjects in the future to see what happens to our cohorts.

They're also doing *FREE* genetic testing/sampling for the Bicuspid Aortic Valve. The results of the test will be shared with the volunteer if they want. From what I've gathered, they've already identified a specific part or parts of the genome that are responsible for the bicuspid aortic valve.

I figured this would be a great way for us to get active and involved in the treatment and progress of care for the condition.

FWIW, this study / registry seems very similar to GENTAC.

Here's the link to the study: https://www.umms.med.umich.edu/umclinicalstudies/detail_pub_study.do?show=YES&id=4462&TYPE=F

Here's copy pasta of the study's info:

Study Details
Email This Study Register Now Printable Page PDF
IRB Number: HUM00035836
Title: Bicuspid Aortic Valve Registry
Condition Category: Cardiovascular Conditions, Heart Conditions
Purpose: The purpose of this registry will be to better characterize patients with bicuspid aortic valve disease, assess the effect of medical intervention, and to identify genetic markers in this population.
Study Description: The purpose of this registry will be to learn more about individuals with bicuspid aortic valve disease. A bicuspid aortic valve has two leaflets instead of the normal three. We know that bicuspid aortic valves tend to run in families and therefore, we are interested in identifying potential genetic tests that may be useful in the future. We are uncertain as to all the medical issues that can occur in individuals with this problem and desire to follow them long term. Bicuspid aortic valves are rare in the general population. We are in a unique position, at the University of Michigan, to gather information in people with aortic bicuspid valves and perhaps lead in future medical care.
Eligibility:

* Age Range: From 18 To 100 years
* Gender:Both Female and Male
* Ethnicity: All
* Race: All
* This study is seeking: Patient with Specific Condition

Tags: Aortic Valve , Bicuspid , Bicuspid Aortic Valv , Congential Heart
Location of Study Visits: Ann Arbor, MI
Principal Investigator: Booher, Anna Manion
Compensation: N/A

Contact for this Study
Ranella, Michael Joseph
734 - 232 - 4780
[email protected]

PLEASE NOTE: Study Coordinators and Research Nurses cannot give medical advice over the phone. If you have specific questions regarding your health care, please call your primary care physician.

 

[Lionheart]

Thanks Duffman,
Very interesting and I encourage our Michigan members to participate. You would think there would be a national database to track issues like we have and the outcomes of surgical intervention, but that doesn't seem to be the case. I'd do this one if they sent me a plane ticket to Ann Arbor but they won't so I guess I'm out.
John

P.S. So Springfield is in MI? I always wondered where it was. LOL

 

[Duffey]

I wish I lived closer to Ann Arbor so I could participate. Thanks for sharing.

 

[Duff Man]

If you guys are too far from UofM you might be close to a center that's participating in the GENTAC study: https://gentac.rti.org/Default.aspx?tabid=110

 

[jake]

U of M Aortic Disease registry

U of M Aortic Disease registry

Howdy All:

I was in for one of my pre-surgical visits at U of M and was approached about this registry.

I have participated in studies in the past and have been very open to them but there was one element of this particular study that made me a little bit uncomfortable.

I have the paperwork and I was looking it over very closely. It stipulates that my genetic material MAY be used by individuals other than the U of M team. It also made it clear that my genetic material could be made available to law enforcement and the insurance company. They didn’t say that they would voluntarily give it up, but that my insurance company would have access to my medical records which this study would be intertwined with.

I was all for this until I read that. I questioned the research technicians and all were very clear that they cannot guarantee 100% that my genetic material will be secure and would not be used for a law enforcement investigation or by my insurance company to exclude me from coverage.

I was very sad to hear this and had to opt not to participate. I believe that this study would have been a great thing particularly for those of us who want to provide good information for future cases. The thing that terrifies me is that my DNA could be used to prevent my children from getting health insurance if it’s found that my family members are pre-disposed to this condition.

 

[Lily]

Thanks for sharing the info, Duffman.

And, Jake, I appreciated the very interesting thoughts you shared about the possible DNA issue also.

 

[Duff Man]

Great point, and it does give me pause about the program too...

The way I think about it is similar to you in protectiveness of my family, but in a different way. I feel like the disease is heritable, and even though my daughter doesn't have the BAV, she may still have some genetic components of it that we're not aware of yet. After all, about a third of my extended family has some sort of valvular problem - not all of the problems being BAV.

I may still have another child that does have a BAV. I feel like I'd be helping my family and my descendants directly by participating in a study that aims to bring better care to bicuspid valvers. Even if there is some remote possibility of my genetic material being shared with some other entity, I feel like I can mitigate/litigate that circumstance when/if it happens, and in my mind the benefits of the study outweigh the risks. I am extremely "progressive" and aggressive when it comes to support for medical research though.

 

[skeptic49]

From the GenTac web site:

Providing personal medical information is a valuable gift to science. We will make every effort to protect your privacy. You will never be identified by name in the registry. Your information will not be shared with researchers who have not been approved by the registry...and no one will know who you are. We do not include your name in the registry.

Jake, if you are not identified by name, and no one will know who you are, how is there a risk as you described?

Jim

 

[jake]

The Aortic Valve Registry

The Aortic Valve Registry

The information gathered, including genetic information, is kept on a password locked computer database at the university. The information would also be part of my medical record. My medical record is shared with the insurance company and is also subject to subpoena by law enforcement. I have a copy of the release if anyone would like to see it.

The linkage between me and my genetic information comes when the test information, which relies on my background and my medical record and is required for this research, is linked to the study which is also, as I understand, will be part of my medical record. The folks who are running the study are very clear that they cannot guarantee 100% that my genetic information will not be accessible by the insurance company or law enforcement, nor will I have any control who they share my information with.

I agree that the chances of my personal information being released is very very low, but when it comes to my genetic information with regard to pre-disposition to this condition, I owe it to my children to keep my genetic information 100% confidential to protect them. If they cannot give me a 100% guarantee, I simply cannot chance it. We hear daily about horror stories of people’s confidential information being accessed through loss and theft of computers and data as well as security breaches and court orders as well as plain old accidents.

I am not trying to discourage anyone from participating in this study. I am only offering my perspective on why I won’t participate. I wish to God that I could because I fit squarely into that study, but I have a responsibility to my family to make every attempt to guarantee their privacy and security. If insurance companies were not so unscrupulous and if government prevented insurance companies to play God with its members and if law enforcement respected the sanctity of medical records, and hackers did not exist, I would be the first one to sign up. I hate that I cannot be part of this study.

 

[Duff Man]

The only problem I see with your logic is that they already know you're a BAVer, and they know there's a risk of heritability. But yes, they might still be able to use our genetics against us in court, or something. If I could spend 5 years in jail to stop 50,000 deaths from BAV, I would do it. Just sayin.

 

[jake]

Duff Man, in many ways, I do agree with you. It sickens me to know about particular instances where an insurance company managed to acquire information about a specific condition and than place it in their data bank (which is accessible to all insurance carriers) and than use it years later to deny coverage or provide coverage at horrifically increased prices to my children or their children because of a documented pre-disposition to a particular disease. It’s simply evil and should be illegal! It is now, but unfortunately, there are hundreds of folks in our government who want to give the power of choosing life or death to insurance companies. It’s disgusting and inhuman to think that there are law makers who are right now fighting to prevent everyone in this country from being able to get reasonably priced health insurance who have or even may have a pre-existing condition.

Although I totally agree that the risk to me is well worth the benefit to the greater collective good, as long as it’s my decision and my decision alone. I am willing to live with that but my problem is that there are literally hundreds of documented instances where situations like this cost the children and families of people their lives and destroyed their financial well-being because genetic results from a research study got into the hands of an insurance company. I am fine with making that call about me and my future, but I just can’t risk it for the sake of my children and their ability to secure insurance. That is their decision to make.

Until we overcome the oppressive and discriminatory rules that insurance companies (who fund almost every congressional and presidential campaign) have over us, we will continue to have people who will be afraid of things like this occurring. It slows down research, costs lives and creates situations where by people who can help to affect better treatment will be afraid of costing themselves and their families a chance to get quality health care coverage.

If people want to shake a fist at someone for causing people to be afraid to take part in research, turn your body towards Washington DC and blame those people we just elected for fighting on behalf of greedy insurance companies and politicians who are currently fighting to exclude our kids for our medical conditions to preserve and improve their multi-billion dollar prophet margins.

In addition to having to opt out of the registry, I also had to opt out of a study to provide samples of my aortic material for future research. Again, if this were 100% about me, I would be OK with it as the cat is already out of the bag. For the sake of the future ability of my children and their children however, I just can’t risk it as long as we have the climate in this country for health insurance that we currently have. This whole issue sickens and disgusts me to no end, but we elected these people and this is the table they set for us. Keep in mind Duff Man, I agree with you 100% and I am ashamed that I have to feel this way. I simply cant risk the health future of my kids. Its just not fair to them. Its not fair to anyone! It sickens me like you will never know!