Washington University School of Medicine Wolfram Research Clinic Newsletter

November 16, 2016 Vol.5

WU Wolfram

Research Clinic

WU 2016 Wolfram Research Clinic

By now you should have received the 2016 Wolfram Research Clinic Feedback Report along with the lab

results from the clinic. If you have not received your feedback report or if you have any questions please let Samantha Ranck know. If you need additional results to

provide to other physicians Samantha can assist you with that as well.

One Disease -- Two Aspects

While Dr. Hershey’s and Dr. Urano’s labs are both at Washington University and they both work on Wolfram Syndrome, their labs perform different types of studies. However, they and others at WU collaborate together

to improve everyone’s work.

Dr. Hershey’s lab focuses on the natural history of symptoms (primarily neurological) of Wolfram

Syndrome to determine the best way to target and track response to future treatment. This is the WU

Research Clinic, funded by NIH.

Dr. Urano’s lab focuses on the genetic and molecular components (including drug screening) of Wolfram

Syndrome and his lab is now starting a safety trial on Dantrolene in people with Wolfram Syndrome.

For questions about Dr. Urano’s safety study please contact him at (314) 362-8683 or urano@wustl.edu or his Research Nurse Coordinator, Ashley Simpson, RN at

(314) 286-1550 or ashley.simpson@wustl.edu.

REMINDERS Sleep study investigators Dr. Licis and Dr. Eisenstein are

continuing to ask all patients to send to the clinic copies of records/results from any sleep testing that they’ve done. If you need a release of information from WU to give to your physician please contact

Samantha.

For questions regarding the research clinic, records or feedback reports, etc… please contact:

Samantha Ranck, Research Clinic Coordinator rancks@npg.wustl.edu or 314-362-6514

RESEARCH UPDATE Dear Research Clinic Families: This has been an exciting year for Wolfram research. Dr. Urano is gearing up to run his safety study on Dantrolene, and Dr. Barrett is waiting for funding news for his efficacy study on valproate. The data that we have collected in the WU Research Clinic have been essential in planning both of these trials. In particular, for Dr. Barrett’s efficacy study, MRI and ophthalmology measures will be used to test whether there is a positive effect of valproate over time. As you may remember, our research clinic has been funded by a grant I have from NIH. We are in our last year of this grant. I had submitted a grant proposal to extend this work another 5 years. The score that we just received indicates that I will likely need to revise and resubmit the grant before receiving more funding. What does all of this mean for you and our research clinic in July? That is a good question, and I don’t have the full answer yet. I can say that it is highly likely that we WILL have a research clinic, but that it will be SMALLER than in previous years, either in the number of people that come, the number of tests we do, or both, primarily due to money constraints. If you have any questions in the meantime, please contact me, Samantha or Dr. Marshall. We would love to hear from you. I hope you all have a great holiday season! Best, Tamara Hershey, PhD (tammy@wustl.edu) Professor & Principal Investigator, WU Wolfram Research Clinic

Vol. 5, Page 2

CLINICAL CARE UPDATE Everyone’s reports from the July clinic should have been received by now. If anyone has medical questions or needs more information about their reports, please feel free to contact me. Also, we are still having success in getting approvals from insurance companies, schools, workplaces, and disability programs for people with Wolfram Syndrome. I have written quite a few letters and even had the opportunity to testify by phone with a federal judge in seeking approvals. If something you need gets denied, please let me know and I will help you appeal. You may have seen information about a new insulin pump recently approved by the FDA from the Medtronic Company. The device should appear on the market in 2017. This is the first of, hopefully, many improvements in diabetes mellitus care that allows communication between an insulin pump and a continuous glucose monitoring (CGM) device. Someone using this system would wear two sites, the pump infusion site and the CGM site. The new feature is that the CGM will send glucose data to the pump, which will be able to increase or decrease its delivery of insulin based on whether the glucose is going up or down. The person will still count their carb intake and tell the pump an estimate of what they are going to eat, but the pump will then give a bolus over a period of time that allows it to increase or decrease the bolus and the basal rate in case your estimate is inaccurate. If it works as advertised, it will be a tremendous advance. Anticipate fights with your insurance, as it will cost more. As always, feel free to ask for help if you need it in getting what you need to improve your health. Likewise, if your health care providers, newly diagnosed people, or organizations need information about Wolfram Syndrome or getting care, please feel free to pass along my email address and phone number. In an emergency, you can also get me any time of day by calling the St. Louis Children’s Hospital operator (314-454-6000) and asking them to page the diabetes doctor on call. If I’m not on call, then whoever is can get hold of me and I’ll call you right back. Bess Marshall, MD (Marshall@kids.wustl.edu) Medical Director, WU Wolfram Research Clinic

A Brief Comment About Antidepressant Use in Wolfram Syndrome

By Angela M. Reiersen, MD, MPE

Over the years, we have learned that anxiety and depression symptoms are fairly common in people with Wolfram Syndrome. These symptoms are also very common in people without Wolfram Syndrome, and may be influenced by genes, life stress, and other factors. If they are bothersome enough to warrant specific treatment, psychotherapy and/or medication may be helpful. However, response to treatment can vary from one individual to another, and may be affected by many factors. At this time, there are no definitive studies on how these symptoms are best treated in Wolfram Syndrome. Thus, we would like to share some general information about psychiatric medication use in Wolfram Syndrome that we have learned over the course of the Wolfram Research Clinic. About half of our clinic participants have reported taking some type of psychiatric medication (currently and/or in the past). One third of clinic participants have taken at least one Selective Serotonin Reuptake Inhibitor (SSRI) for treatment of depression, anxiety, and/or obsessive-compulsive symptoms, including sertraline (Zoloft), citalopram (Celexa), and fluoxetine (Prozac). Although some individuals reported benefits from sertraline, several reported that they stopped using sertraline due to side effects and/or ineffectiveness. In contrast, most individuals who took citalopram or fluoxetine reported a good response. Although it is difficult to draw any conclusions without a randomized, controlled comparison trial, these observations raise the question of whether people with Wolfram Syndrome may have less beneficial response to sertraline compared to other SSRIs. You may wish to share the above preliminary information with your treating physician if you are thinking about starting, stopping, or switching an SSRI medication. Keep in mind that it could be dangerous to suddenly stop or switch medication without first discussing risks and benefits of a change with your prescribing doctor. Your doctor will need to consider your unique medical history to help determine the best treatment.

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