Washington University School of Medicine Wolfram Research Clinic Newsletter

February 1, 2016 Vol.2

WU Wolfram

Research Clinic

WU Wolfram Research Clinic

Dear Patients and Families,

Planning for the 2016 Wolfram Syndrome (WFS) Clinic has begun! Please be on the lookout for e-mail and/or snail mail communications from the

clinic staff. Your prompt response to any requests for information helps us to plan more efficiently and

ensure a smooth clinic experience. If you have changed your address, phone number or e-mail in the past year please contact Samantha Ranck and

she’ll update your information thereby ensuring that you don’t miss any upcoming communications.

Samantha can be reached at:

Samantha Ranck, MSW Research Clinic Coordinator

rancks@npg.wustl.edu 314-362-6514

ENROLLMENT Enrollment for new patients with Wolfram

Syndrome into the clinic is still open. We have enrolled 7 new patients with an additional 2

pending. Should you know of a patient or family who may be interested please direct them to the

clinic Coordinator, Samantha Ranck. She will be able to answer their questions and get them started on

the enrollment process.

REMINDERS The 2016 clinic will be held from the evening of

Tues., 7/12/16 thru Sat., 7/16/16. We will let participants know if there are

opportunities to begin testing earlier in the week.

RESEARCH UPDATE We hope everyone had a relaxing and warm (at least in spirit) holiday season. We wanted to provide you with a few exciting updates on our research: 1) We are actively working with clinics in Birmingham (England), Lodz (Poland), Paris (France) and Montpellier (France) to collect similar data on Wolfram patients. Pooling data across centers will allow us to draw stronger conclusions and prepare for clinical trials faster. Indeed, this collaboration is an excellent platform for a multi-site clinical trial. 2) Important work from our Research Clinic was recently accepted for publication in Scientific Reports. This paper identifies a particular neuropathological finding in the brain that may help us track the progression of Wolfram Syndrome and lead to potential new targets for intervention. We will make this paper available to you once it is published. TITLE: Neuroimaging evidence of deficient axon myelination in Wolfram syndrome AUTHORS: Lugar, Koller, Rutlin, Marshall, Kanekura, Urano, Bischoff, Shimony, Hershey and the Washington University Wolfram Syndrome Research Study Group Best, Tamara Hershey, Ph.D. Professor & Scientific Director of Research Clinic

Tamara Hershey, PhD, Samantha Ranck, MSW and Bess

Marshall, MD

Vol 2, Page 2

OT for Wolfram Syndrome cont. If you are interested in an OT consultation at Washington University, please let Dr. Marshall, Dr. Hershey or Samantha Ranck know and we will be glad to help you.

RESOURCES Have you visited the WU Wolfram Research Clinic

Website?? The website contains relevant information about upcoming clinics, updates and

links to publications relevant to our research, news related to recent progress in Wolfram Syndrome

research and other information. Please be sure to check it out!!

http://hersheylab.wustl.edu/wolframresearchclinic.h

tml

*Additional information about the WU Wolfram Research Clinic study can be found at

http://ClinicalTrials.gov *WU IRB approval #: 201301004

Below is a picture of Dr. Hershey, Dr. Marshall and members of the Hershey Lab who help guide this

enormous effort!

CLINICAL CARE UPDATE Everyone is hard at work preparing for the clinic in July and we are delighted that so many of you will be able to attend. I’ve been working on the data from your favorite questionnaires – the two day and one week diaries! There is a lot of good information there that I will share once I get done sorting through it. If you have not filled out one of those diaries in the past couple of years, let us know if you’d be willing to send in one this winter. As always, feel free to contact any of us should you need a letter to insurance or school or disability, etc., and I’m happy to write what you need. Likewise, feel free to call if you need a referral for a doctor near you or would like to see one of the doctors here for any aspect of your Wolfram. Best, Bess Marshall, M.D. Professor & Medical Director of the Research Clinic

OT for Wolfram Syndrome

What is OT? Occupational therapy (OT) is designed for people who need specialized assistance to lead independent, productive, and satisfying lives due to physical, developmental, social, or emotional difficulties. OT focuses on increasing independence, enhancing development, and preventing disability. Overall, OT promotes participation, daily function, and quality of life.

Why is OT important for Wolfram Syndrome? Participation in daily activities is an important part of living a purposeful and meaningful life, and lack of participation can often times lead to diminished health and a decreased quality of life. The symptoms of Wolfram Syndrome have the potential to negatively affect participation in daily life activities. Interventions that promote participation can enhance quality of life for both patients and families. Some areas that OTs could potentially focus on while working with individuals with WFS include education on energy conservation/fatigue management strategies and use of adaptive equipment, technologies, and supports to help with low vision, decreased hearing, and diabetes. OTs also advocate for their clients by ensuring they receive appropriate work and school accommodations, if necessary.

.

Newsletters will be sent out quarterly via e-mail. If

you prefer to receive your newsletter via snail mail

please contact Samantha Ranck at

rancks@npg.wustl.edu or 314.362.6514 and your

preference will be updated.