Rare Disease Day 2020

Dear Friends,

Happy Rare Disease Day. Thank you for your emails and messages in the past few days. I appreciate you shared your feelings with me and encouraged me regarding our therapeutic development for Wolfram syndrome. As I mentioned in my blog on January 1, 2020, I am determined to make 2020 the game-changing year for us. We will: Improve clinical care, Raise awareness, and Provide a cutting-edge treatment for Wolfram syndrome.

We are making steady progress in the following three areas.

1. Set up a new clinical trial for Wolfram syndrome using one of the new drugs.
Application for the Orphan drug designation of one new drug will be sent to the FDA soon.

2. Complete preclinical studies for gene therapy for optic nerve atrophy in Wolfram.
We have established six new adeno-associated virus constructs for gene therapy. We can transfer and express normal WFS1 gene and MANF gene (regeneration factor) in human cells. We are still at the preclinical stage, and I want to accelerate the speed. I have a few strategies I plan to share with you soon.

3. Set up genetic testing for genetic forms of diabetes and ER stress-related disorders, including Wolfram syndrome, and create a clinical service for those patients.
Genetic testing service has been established at our medical center. We plan to offer genetic education and counseling (first step), and then offer personalized management plans (second step).

As always, please feel free to contact me with any questions (urano@wustl.edu). I would like to know what you think and how you think. Thank you again for your continued support and encouragement. I am determined to make a difference in the future of our patients. We will work as one team and change history together.

Fumi Urano
February 29, 2020, on the Rare Disease Day