Clinical Trial Update by Fumihiko Urano, M.D.

Dear Friends,

I would like to update you about the status of our clinical trial of dantrolene sodium in patients with Wolfram syndrome. Dantrolene is a US Food and Drug Administration (FDA)-approved drug currently used for different medical conditions. Based on our data, we received orphan drug designation of dantrolene sodium for the treatment of Wolfram syndrome from US FDA and European Medicines Agency (EMA) in 2016. We also ​received the​ green light from ​the ​FDA and Washington University Medical Center to proceed to a pilot clinical trial (phase 1b) to assess the safety and efficacy of dantrolene on patient’s vision, brain functions, and diabetes.

Thanks to the generous support from the Snow Foundation in collaboration with Ellie White Foundation and other private donors, I was able to commence the clinical trial and slowly started recruiting patients. I would like to recruit at least 24 patients and hope to secure more funds to accommodate all the patients who are eligible for this trial. Stephanie Gebel​ has told me that she will do her best to make this happen. ​I was just informed ​​this week that we will receive grant funding from the National Institutes of Health (NIH) to support this trial.

​have not forgotten​ about our patients in other countries. Dr. Tim Barrett in the UK and I are closely working ​to conduct international clinical trials for Wolfram syndrome. In parallel, we keep on developing novel drugs and regenerative therapies for Wolfram syndrome. Dantrolene could be a band-aid for Wolfram, but cannot provide a cure. Thus, we need pipelines for developing breakthrough treatments.

Thank you for your continued support.

Sincerely,

Fumi Urano, MD

Reflections

stephanie-snow-gebel reflectionsWith 2016 behind us and the promise of 2017 ahead, I sit in my front room looking at the beautiful fire, wondering where the time has gone.

My childhood was wonderful. I had two parents who loved me to the moon and back. My dad was one of a kind — handsome, charismatic and so proud of his three children. My mom was beautiful inside and out. My parents were always there for me. They were my cheerleaders when I needed a pick-me-up. They were my lighthouse when I was lost at sea.

I lost my mom to cancer five months before I married Barclay. She was just 54 years old. Talk about devastating! Imagine walking down the aisle on your wedding day, knowing your mom isn’t at the end of it. Then, seven years later, I lost my dad to a staph infection. He had just turned 62.

Life seemed to move a bit slower after I lost my father because now I felt orphaned. Anyone who has lost one or both parents knows this feeling all too well. However, I have to admit that the heartbreak of losing my mother and father doesn’t hold a candle to learning that my child has a rare disease and most likely will lose her life before she turns 30.

When you learn that your five-year-old child has insulin-dependant diabetes and will eventually lose her vision, hearing, balance, bladder control and breathing, the world just stops and you go numb. I wanted to turn to my parents, cry on their shoulders and have them tell me that everything would be all right. I wanted my dad to broadcast the hell out of this disease so we could raise the necessary funding to stop it. But they were both gone, and I would have to go solo on this one.

A child’s illness affects families in so many ways that most people will never understand. It affects the parents, siblings and friends. It’s not easy to be married and together have to watch your child deteriorate in front of you. As a sibling, it’s hard to enjoy the normal things in life knowing that your sister can’t. We always carry a bit of guilt because we can do things that she can’t. It’s a day-to-day struggle, but somehow I fight like hell to provide my children with a happy and normal childhood like I had, even though we face this devastating disease.

Recently, I had dinner with a good friend, and I spoke with tears in my eyes about how we are not really in control of any of this. How could so much change in such a short amount of time? My friend theorized that maybe those who had a happy childhood struggle when they get older, and those who had a bad childhood have good things happen to them later in life. Maybe this is the way the universe even things out. Who knows!

What I do know is that, like my parents, I will try with all my heart to create happy memories for my four children, even though we have to endure a reality that no family should ever have to endure — watching a loved one slip away. I will be their cheerleader when they need a pick-me-up, and their lighthouse when they feel lost.

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