Please help us spread the word

There is an urgent need to develop therapeutics for Wolfram syndrome. We need to swiftly test the safety of each new treatment and bring it to patients. I hope you share the video and help us spread the word.

https://www.facebook.com/video.php?v=948926448455453

I am interested in donating my intellectual properties to patient organizations. A clinical trial for new treatment is controlled by a pharmaceutical company or an investigator who owns the intellectual property of the treatment/drug. If a patient organization owns it, they can control the clinical trial and potentially get some income out of it. They can use the money for developing new therapies or raising awareness.

Thank you for reading this. I always appreciate your continued encouragement and support. I read all the emails with gratitude. I cannot thank you enough.

Warmest regards,

Fumi Urano

http://wolframsyndrome.dom.wustl.edu/

Intervention and Platform

My team is pursuing multiple therapeutic modalities, including therapies using FDA-approved drugs (drug repurposing), combination therapies, new small molecules, and stem cell-based therapy combined with genome editing. I am also working hard to create platforms to bring these new therapies to patients. Both should happen simultaneously.

Thank you for reading this blog. I feel something wonderful is going to happen to us today.

Warmest regards,
Fumi Urano

Combination therapy

My team's new initiative is to develop a "combination therapy" for Wolfram and Type 1 diabetes. What is a "combination therapy"? It is a therapy that uses more than one medication or modality. The advantage for this is that we can target different enzymes involved in the disease progression, which may increase our chance of stopping the progression. We may be able to decrease the dose of each drug, which reduces the risk of side effects. The challenge is that we don't know which combination is the best. It is almost like solving the puzzle, but we will keep on trying.

Thank you for reading this. I hope you have a wonderful Sunday.

Warmest regards,

Fumi Urano

Other symptoms and an urgent need

Wolfram syndrome is characterized by juvenile-onset diabetes and optic nerve atrophy. Many patients experience diabetes insipidus, hearing impairment, and ataxia due to neurodegeneration. You can find these symptoms in a text book or review articles.

There are other common symptoms that have not been extensively studied. Here is the list of symptoms based on our database. More than 10% of patients experience the following. You will find how difficult this disorder is. There is an urgent need to develop therapeutics for Wolfram syndrome. We need drugs and stem cell-based therapy in combination with gene therapy. 

Neurogenic Bladder: 25.00%
Anxiety: 25.00%
Headaches: 25.00%
Problems Regulating Temperature: 22.50%
Bladder Incontinence: 17.50%
Apnea: 15.00%
Dizziness When Standing Up: 15.00%
Postural Instability (this is related to ataxia, but just in case): 12.50%
Hypogonadism: 12.50%
Seizures: 12.50%
Constipation/Fecal Impactation: 12.50%
Panic Attacks: 10.00%
Weight Loss: 10.00%
Excessive Sweating : 10.00%

I would like to donate the entire data in our registry database to the patient organizations. I feel patients should own the data collected from patients.

Although these symptoms sound awful, I am still hopeful. We are making steady progress. I believe in the power of genetic medicine. I always appreciate support from our patients and families, patient organizations, our colleagues in St. Louis, US, England, Europe, South America, and Asia. I feel grateful. Thank you, Thank you, Thank you.

Kindest regards,
Fumi Urano

Thank you, Thank you, Thank you for your support.

I receive many emails and phone calls from patients with genetic disorders, including Wolfram syndrome, and diabetes. Most of them have questions related to their conditions. I also receive thank-you letters. I appreciate all of these emails, phone calls, and letters. I always learn some thing out of these. 

Our therapeutic development is largely supported by donations from patient organizations, patients, and their family members and friends. The Jack and JT Snow Foundation has been supporting my team since I joined Washington University Medical Center in 2012. Recently the Ellie White Foundation has started supporting my team. The team Alejandro and the team Ian also started supporting us. I also receive individual donations all the time. Patient organizations in the US and UK are raising awareness. I cannot thank you enough. I feel grateful.

I read the blog written by Lauren, one of our patients, yesterday and was struck by that. I hope you will read this. 

Thank you for your support. I feel grateful. Thank you, Thank you, and Thank you.

Take care,

Fumi Urano