There is an ongoing research study at University of California San Francisco (Mission Bay) for both clinically tested positive CADASIL patients AND undiagnosed family members, (siblings, parents, children, grandchildren, etc).
We would like to share an account of Robin’s experience participating in the study.
Many individuals often ask about the cost associated with participating in a study, and often it is different for each study. For this UCSH study, all testing is at no charge. (Travel , lodging, meals are on your own.) Test results from this study are confidential, are under HIPPA, AND if you do not want results, they will not give them to you. The team is concerned the study will be considered insignificant if more people do not participate. This would be a huge shame.
This is a 2-day participant program. The first day involves blood tests: checking cholesterols, inflammation markers, etc. It includes the genetic test for CADASIL, if the patient has not done that yet. *You are not required to know your results. They welcome undiagnosed family members to also participate.* Then there are several cognition tests, one on an iPad, the other run by Devyn, the study coordinator. Robin also had a non-contrast brain MRI. (They use a mirrored hood so you can look out of the MRI tunnel, helping lessen claustrophobic feelings.) There are 2 digital eye exams. Everything was totally painless, although tiring.
The next day was the almost 2 hour visit with the study neurologist, Dr. Fanny Elahi, MD, PhD. Robin’s husband sat in on this, and then he was also interviewed separately about things he may be observing about her in daily living. Dr. E is a petite, dark-haired young woman who spent a lot of time going over Robin’s and her family’s health history, her lifestyle, supplements taken, and symptoms. Dr. E spoke about the possible correlation of arthritis and CADASIL. (Robin has arthritis in her hands and neck.) The doctor has colleagues studying arthritis, and its possible a treatment for CADASIL might come from arthritis research. Dr. E also thinks it’s possible that with an early diagnosis of CADASIL and the importance of making lifestyle changes (exercise, diet, decreasing stress, not smoking) might decrease some symptoms of CADASIL. She feels that inflammation might have a lot to do with the manifestation of symptoms. All this and much more are things this study hopes to confirm, if they get enough participants.
Everything was done by noon the 2nd day. Mission Bay is being developed into a very nice area. The UCSF campus is beautiful. Devyn, the study coordinator, was very friendly, explained each test very well, and was with Robin most of the time. She was told numerous times that she can email Devyn at any time with questions or clarifications. Robin will get a conference call about the results of the tests at an upcoming date. (This was Robin’s first brain MRI. She was diagnosed with CADASIL in 2010 following Janet’s in 2009.)
She will go back to UCSF at least two more times in the space of the 5 year study to check for changes.
Reasons Robin feels this is an important CADASIL study: She really wants to help in discovering a treatment/cure for CADASIL. The study needs participants to be relevant. She has 3 un-tested kids in their 30s, and seeing how important early detection and/or adopting healthy lifestyles might be, we are hoping they will take a “sibling vacay” in the near future to take part in the study. She also felt it was time to get a brain MRI so she can know if she has any white matter disease, etc. (She has only had 3 aura-type migraines in her life.)
Robin and her husband spent about $200/night on a hotel. She has lots of info on good, less expensive hotels. The light rail is great for getting around. The study will cover the expense of getting to UCSF by taxi, Lyft or light rail. Everyone they had contact with were friendly. San Francisco is a great place to visit!
If you have any questions about the logistics or anything about this study, please email Robin at: firstname.lastname@example.org
UCSF contact to participate:
If you are interested in learning about other CADASIL research opportunities, please visit https://curecadasil.org/research-studies-to-join/
cureCADASIL.org – September 2019
The views and opinions expressed in this blog are those of the author and do not necessarily reflect the official policy or position of any other agency, organization, employer or company including cureCADASIL and the physicians associated with this study.